82 results on '"Maria G. Vogiatzi"'
Search Results
2. Crinecerfont, a CRF1 Receptor Antagonist, Lowers Adrenal Androgens in Adolescents with Congenital Adrenal Hyperplasia
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Ron S Newfield, Kyriakie Sarafoglou, Patricia Y Fechner, Natalie J Nokoff, Richard J Auchus, Maria G Vogiatzi, George S Jeha, Nagdeep Giri, Eiry Roberts, Julia Sturgeon, Jean L Chan, and Robert H Farber more...
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Endocrinology ,Endocrinology, Diabetes and Metabolism ,Biochemistry (medical) ,Clinical Biochemistry ,Biochemistry - Abstract
Context Crinecerfont, a corticotropin-releasing factor type 1 (CRF1) receptor antagonist, has been shown to reduce elevated adrenal androgens and precursors in adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD CAH), a rare autosomal recessive disorder characterized by cortisol deficiency and androgen excess due to elevated ACTH. Objective To evaluate the safety, tolerability, and efficacy of crinecerfont in adolescents with 21OHD CAH. Design Open-label, phase 2 study (NCT04045145). Setting United States (4 centers). Participants Males and females, 14 to 17 years of age, with classic 21OHD CAH. Intervention Orally administered crinecerfont (50 mg twice daily) for 14 consecutive days with morning and evening meals. Main outcomes Change from baseline to day 14 in circulating concentrations of ACTH, 17-hydroxyprogesterone (17OHP), androstenedione, and testosterone. Results Eight participants (3 males, 5 females) were enrolled; mean age was 15 years and 88% were Caucasian/White. After 14 days of crinecerfont, median percent reductions from baseline to day 14 were as follows: ACTH, -57.1%; 17OHP, -69.5%; and androstenedione, -58.3%. In female participants, 60% (3/5) had ≥50% reduction from baseline in testosterone. Conclusions Adolescents with classic 21OHD CAH had substantial reductions in adrenal androgens and androgen precursors after 14 days of oral crinecerfont administration. These results are consistent with a study of crinecerfont in adults with classic 21OHD CAH. more...
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- 2023
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3. Information Needs and Health Status in Adolescents and Young Adults with Differences of Sex Development or Sex Chromosome Aneuploidies
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Victoria A. Miller, Christina Miller, Shanlee M. Davis, Natalie J. Nokoff, Cindy Buchanan, Elizabeth A. Friedrich, Alexandra Carl, Sophia Strine, and Maria G. Vogiatzi
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Urology ,Pediatrics, Perinatology and Child Health - Published
- 2023
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4. Allometric Scaling of Testosterone Enanthate Pharmacokinetics to Adolescent Hypogonadal Males (IM and SC Administration)
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Maria G Vogiatzi, Jonathan S Jaffe, Takugo Amy, and Alan D Rogol
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Endocrinology, Diabetes and Metabolism - Abstract
Context Intramuscular (IM) testosterone enanthate (TE) and testosterone pellets were US Food and Drug Administration approved before 1962 for pediatric use but not studied in controlled trials in adolescents. Objective An analysis using nonlinear mixed effect (NLME) modeling was designed to evaluate the adult pharmacokinetics (PK) of subcutaneous (SC) and IM TE. This model was used to simulate SC and IM TE administration in adolescents of different weight groups. Methods Data from adult male patients in a phase 2 trial were used to characterize the PK of TE using population PK modeling for SC and IM administration: Allometry was used to scale PK parameters from the adult model to simulate adolescent (aged 12 to Results The final data set included 714 samples from 15 patients receiving 100 mg SC TE and 123 samples from 10 patients receiving 200 mg IM TE. In simulated populations, average serum concentration SC:IM ratios were 0.783, 0.776, and 0.757 at steady state for weekly, EOW, and monthly dosing groups, respectively. Simulated regimens of 12.5 mg SC TE monthly produced serum testosterone levels representative of early puberty and simulated pubertal stage progression following multiple subsequent testosterone dose increases. Conclusion SC TE administration achieved a testosterone exposure-response relationship similar to IM TE in simulated adolescent hypogonadal males, which may reduce size of fluctuations in serum T and related symptoms. more...
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- 2023
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5. Approach to the Patient: Central Precocious Puberty
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Marissa J Kilberg and Maria G Vogiatzi
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Endocrinology ,Endocrinology, Diabetes and Metabolism ,Biochemistry (medical) ,Clinical Biochemistry ,Biochemistry - Abstract
Central precocious puberty (CPP) classically refers to premature activation of the hypothalamic–pituitary–gonadal axis with onset of sexual development before the age of 8 years in girls and 9 years in boys. A decrease in the age of thelarche has been reported over the past several decades; however, the tempo of pubertal progression can be slower and adult height may not be adversely affected in many of the girls who experience thelarche at 6-8 years. Outside of this secular trend in the development itself, the past several decades have also brought about advances in diagnosis and management. This includes the widespread use of an ultrasensitive luteinizing hormone assay, decreasing the need for stimulation testing and a better understanding of the genetics that govern the onset of puberty. Additionally, management of CPP using gonadotropin-releasing hormone analogs (GnRHas) has changed with the advent of new longer-acting formulations. Emerging long-term outcomes of GnRHa administration with regards to obesity, cardiovascular risk factors and fertility are reassuring. Despite these advancements, clinical care in CPP is hampered by the lack of well-designed controlled studies, and management decisions are frequently not supported by clear practice guidelines. Data in boys with CPP are limited and this article focuses on the diagnosis and management of CPP in girls, particularly, in those who present with thelarche at the age of 6-8 years. more...
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- 2023
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6. Crinecerfont Lowers Elevated Hormone Markers in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia
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Nagdeep Giri, Jean L Chan, Robert Farber, Maria G. Vogiatzi, Richard J. Auchus, Shanlee M Davis, Patricia Y. Fechner, Erik A. Imel, Eiry Roberts, Julia Sturgeon, and Kyriakie Sarafoglou
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Adult ,Male ,medicine.medical_specialty ,Adolescent ,medicine.drug_class ,Endocrinology, Diabetes and Metabolism ,Clinical Biochemistry ,Administration, Oral ,Adrenocorticotropic hormone ,Receptors, Corticotropin-Releasing Hormone ,Biochemistry ,Young Adult ,Endocrinology ,Adrenocorticotropic Hormone ,Internal medicine ,medicine ,Humans ,Testosterone ,Congenital adrenal hyperplasia ,Androstenedione ,Oxadiazoles ,Adrenal Hyperplasia, Congenital ,Dose-Response Relationship, Drug ,business.industry ,17-alpha-Hydroxyprogesterone ,Biochemistry (medical) ,Middle Aged ,Androgen ,medicine.disease ,Treatment Outcome ,Cohort ,Female ,business ,Azabicyclo Compounds ,Biomarkers ,Glucocorticoid ,medicine.drug ,Cohort study - Abstract
Context Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) is characterized by impaired cortisol synthesis and excess androgen production. Corticotropin-releasing factor type 1 receptor (CRF1R) antagonism may decrease adrenal androgen production. Objective This work aimed to evaluate the safety, tolerability, and efficacy of crinecerfont (NBI-74788), a selective CRF1R antagonist, in 21OHD. Methods This open-label, phase 2 study, with sequential cohort design (NCT03525886), took place in 6 centers in the United States. Participants included men and women, aged 18 to 50 years, with 21OHD. Interventions included 4 crinecerfont regimens, each administered orally for 14 consecutive days: 50 or 100 mg once daily at bedtime (cohorts 1 and 2, respectively); 100 mg once daily in the evening (cohort 3); and 100 mg twice daily (cohort 4). Participants could enroll in more than 1 cohort. Main outcomes included changes from baseline to day 14 in adrenocorticotropin (ACTH), 17-hydroxyprogesterone (17OHP), androstenedione, and testosterone. Results Eighteen participants (11 women, 7 men) were enrolled: cohort 1 (n = 8), cohort 2 (n = 7), cohort 3 (n = 8), cohort 4 (n = 8). Mean age was 31 years; 94% were White. Median percent reductions were more than 60% for ACTH (–66%), 17OHP (–64%), and androstenedione (–64%) with crinecerfont 100 mg twice a day. In female participants, 73% (8/11) had a 50% or greater reduction in testosterone levels; male participants had median 26% to 65% decreases in androstenedione/testosterone ratios. Conclusion Crinecerfont treatment for 14 days lowered ACTH and afforded clinically meaningful reductions of elevated 17OHP, androstenedione, testosterone (women), or androstenedione/testosterone ratio (men) in adults with 21OHD. Longer-term studies are required to evaluate the effects of crinecerfont on clinical end points of disordered steroidogenesis and glucocorticoid exposure in patients with 21OHD. more...
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- 2021
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7. Skin-to-Skin Care is Associated with Reduced Stress, Anxiety, and Salivary Cortisol and Improved Attachment for Mothers of Infants With Critical Congenital Heart Disease
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Ryan Quinn, Barbara Medoff-Cooper, Maria G. Vogiatzi, Jesse Chittams, Rebecca Hoffman, Andrew T. Costarino, Amy Jo Lisanti, and Abigail C Demianczyk
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medicine.medical_specialty ,business.industry ,Critical Care Nursing ,medicine.disease_cause ,Pediatrics ,Mental health ,Cardiac surgery ,Oxytocin ,Internal medicine ,Maternity and Midwifery ,medicine ,Anxiety ,Psychological stress ,Stress measures ,medicine.symptom ,Critical congenital heart disease ,business ,Salivary cortisol ,medicine.drug - Abstract
Objective To estimate the effect of skin-to-skin care (SSC) on biobehavioral measures of stress (anxiety and salivary cortisol) and attachment (attachment scores and salivary oxytocin) of mothers before and after their infants’ neonatal cardiac surgery. Design A prospective interventional, baseline response–paired pilot study. Setting Cardiac center of a large, metropolitan, freestanding children’s hospital. Participants Thirty women whose infants were hospitalized for neonatal cardiac surgery. Methods Participants acted as their own controls before, during, and after SSC at two time points: once before and once after surgery. We measured the stress response of mothers, as indicated by self-reported scores of anxiety and maternal salivary cortisol, and maternal–infant attachment, as indicated by self-reported scores and maternal salivary oxytocin. Results Significant reductions in self-reported scores of anxiety and salivary cortisol were found as a result of SSC at each time point, as well as increased self-reported attachment. No significant differences were found in oxytocin. Conclusion Our findings provide initial evidence of the benefits of SSC as a nurse-led intervention to support maternal attachment and reduce physiologic and psychological stress responses in mothers of infants with critical congenital heart disease before and after neonatal cardiac surgery. more...
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- 2021
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8. Diagnosis and Management of Endocrine Hypertension in Children and Adolescents
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Assimina Galli-Tsinopoulou, Eleni P Kotanidou, Vasiliki-Regina Tsinopoulou, Styliani Giza, and Maria G. Vogiatzi
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Pharmacology ,Pediatrics ,medicine.medical_specialty ,Adolescent ,business.industry ,Adipose tissue ,Disease ,medicine.disease ,Obesity ,Hyperaldosteronism ,Catecholamines ,Hypertension ,Drug Discovery ,Prevalence ,medicine ,Humans ,Endocrine system ,Congenital adrenal hyperplasia ,Child ,business ,Endocrine gland ,Hormone - Abstract
Hypertension in childhood and adolescence has increased in prevalence. Interest in the disease was raised after the 2017 clinical practice guidelines of the American Academy of Paediatrics on the definition and classification of paediatric hypertension. Among the secondary causes of paediatric hypertension, endocrine causes are relatively rare but important due to their unique treatment options. Excess of catecholamine, glucocorticoids and mineralocorticoids, congenital adrenal hyperplasia, hyperaldosteronism, hyperthyroidism and other rare syndromes with specific genetic defects are endocrine disorders leading to paediatric and adolescent hypertension. Adipose tissue is currently considered the major endocrine gland. Obesity-related hypertension constitutes a distinct clinical entity leading to an endocrine disorder. The dramatic increase in the rates of obesity during childhood has resulted in a rise in obesity-related hypertension among children, leading to increased cardiovascular risk and associated increased morbidity and mortality. This review presents an overview of pathophysiology and diagnosis of hypertension resulting from hormonal excess, as well as obesity-related hypertension during childhood and adolescence, with a special focus on management. more...
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- 2020
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9. Changes in body mass index in children on gonadotropin-releasing hormone agonist therapy with precocious puberty, early puberty or short stature
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Maria G. Vogiatzi, Marisa Censani, Sarah Orton, Alexis J. Feuer, and Gulce Askin
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Male ,medicine.medical_specialty ,medicine.drug_class ,Pediatric endocrinology ,Endocrinology, Diabetes and Metabolism ,Puberty, Precocious ,Dwarfism ,030209 endocrinology & metabolism ,Short stature ,Body Mass Index ,Gonadotropin-Releasing Hormone ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,030225 pediatrics ,Internal medicine ,Gonadotropin-releasing hormone agonist ,medicine ,Humans ,Precocious puberty ,Longitudinal Studies ,Sexual Maturation ,Child ,Retrospective Studies ,business.industry ,Body Weight ,Retrospective cohort study ,Fertility Agents, Female ,Prognosis ,medicine.disease ,Pediatrics, Perinatology and Child Health ,Body Composition ,Female ,Leuprolide ,medicine.symptom ,business ,Body mass index ,Biomarkers ,Follow-Up Studies ,Hormone ,Early puberty - Abstract
Background The use of gonadotropin-releasing hormone agonists (GnRHa) for pubertal suppression has been associated with increased body mass index (BMI) in female subjects with central precocious puberty (CPP), although results have been so far conflicting. This study examined the effects of GnRHa therapy in both genders and in subjects treated for CPP, early puberty or short stature. Methods This was a longitudinal retrospective study of subjects followed at outpatient pediatric endocrinology clinics of an academic medical center from 2005 to 2014 receiving GnRHa therapy. Results At 12 months, subjects on depot GnRHa had a statistically significant increase in BMI standard deviation score (SDS) from baseline (0.13 ± 0.35, p Conclusions Subjects with short stature, normal BMI at baseline and female sex had significant increases in BMI SDS at 12 months. This is the first study to show an increase in BMI SDS in children treated with GnRHa for short stature, and is one of the few studies to assess BMI changes in males. more...
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- 2019
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10. Histrelin implantation in the pediatric population: A 10-year institutional experience
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Craig A. Alter, Michael L. Nance, Robert A. Swendiman, and Maria G. Vogiatzi
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Male ,Gender dysphoria ,Operating Rooms ,Pediatrics ,medicine.medical_specialty ,Sedation ,Puberty, Precocious ,Ambulatory Care Facilities ,Gonadotropin-Releasing Hormone ,03 medical and health sciences ,0302 clinical medicine ,030225 pediatrics ,medicine ,Humans ,Precocious puberty ,Outpatient clinic ,Child ,Gender Dysphoria ,Retrospective Studies ,Drug Implants ,Histrelin ,business.industry ,Gender Identity ,Retrospective cohort study ,General Medicine ,Evidence-based medicine ,medicine.disease ,030220 oncology & carcinogenesis ,Pediatrics, Perinatology and Child Health ,Female ,Surgery ,Implant ,medicine.symptom ,business ,medicine.drug - Abstract
Purpose To perform the largest review of the safety and clinical management practices of histrelin implantation in children. Methods A retrospective cohort study was performed including all patients (age ≤ 20) that underwent histrelin implant insertion, replacement, or removal by a single surgeon at a large pediatric tertiary care center (2008–2017). Data analyzed included patient demographics, procedure details, and complications. Results A total of 377 patients, with a mean age of 9.3 ± 2.4 years, underwent 866 unique procedures (352 insertions, 329 replacements, and 185 removals) for a diagnosis of either central precocious puberty (343 patients, 821 cases) or gender identity disorder (34 patients, 45 cases). There were 271 (72%) female patients, 72 (19%) male patients, and 34 (9%) children in gender transition. Procedures were performed in three settings: 415 (47.9%) in the outpatient clinic, 401 (46.3%) in a sedation unit, and 50 (5.8%) in the operating room. The preferred setting shifted over time to more clinic-based procedures (9.4% vs. 62.9% in the first five vs. second five years, respectively). Complications were rare (1% of cases). Conclusion Histrelin implantation in the pediatric population is safe, with minimal morbidity. Implantation and removal in the clinic setting are appropriate for the majority of patients. Level of evidence Treatment study; Level IV. more...
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- 2019
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11. Tildacerfont in Adults With Classic Congenital Adrenal Hyperplasia: Results from Two Phase 2 Studies
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Ron S. Newfield, Michael Huang, Maria G. Vogiatzi, Ivy-Joan Madu, Erik A. Imel, Kyriakie Sarafoglou, Samer Nakhle, Chris Barnes, Richard J. Auchus, Deborah P. Merke, and David Moriarty
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Adult ,Male ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,Clinical Biochemistry ,Context (language use) ,Adrenocorticotropic hormone ,Biochemistry ,Gastroenterology ,Receptors, Corticotropin-Releasing Hormone ,Young Adult ,Endocrinology ,Adrenocorticotropic Hormone ,tildacerfont ,Internal medicine ,congenital adrenal hyperplasia ,Medicine ,Humans ,Congenital adrenal hyperplasia ,Androstenedione ,Online Only Articles ,Adverse effect ,Clinical Research Articles ,Aged ,Adrenal Hyperplasia, Congenital ,business.industry ,17-alpha-Hydroxyprogesterone ,Biochemistry (medical) ,17-hydroxyprogesterone ,Middle Aged ,medicine.disease ,Upper respiratory tract infection ,Biomarker (medicine) ,CRF-receptor antagonist ,Female ,business ,AcademicSubjects/MED00250 ,Biomarkers ,Hormone ,Follow-Up Studies - Abstract
Context Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) is typically treated with lifelong supraphysiologic doses of glucocorticoids (GCs). Tildacerfont, a corticotropin-releasing factor type-1 receptor antagonist, may reduce excess androgen production, allowing for GC dose reduction. Objective Assess tildacerfont safety and efficacy. Design and Setting Two Phase 2 open-label studies. Patients Adults with 21OHD. Intervention Oral tildacerfont 200 to 1000 mg once daily (QD) (n = 10) or 100 to 200 mg twice daily (n = 9 and 7) for 2 weeks (Study 1), and 400 mg QD (n = 11) for 12 weeks (Study 2). Main Outcome Measure Efficacy was evaluated by changes from baseline at 8 am in adrenocorticotropic hormone (ACTH), 17-hydroxyprogesterone (17-OHP), and androstenedione (A4) according to baseline A4 ≤ 2× upper limit of normal (ULN) or A4 > 2× ULN. Safety was evaluated using adverse events (AEs) and laboratory assessments. Results In Study 1, evaluable participants with baseline A4 > 2× ULN (n = 11; 19-67 years, 55% female) had reductions from baseline in ACTH (−59.4% to −28.4%), 17-OHP (−38.3% to 0.3%), and A4 (−24.2% to −18.1%), with no clear dose response. In Study 2, participants with baseline A4 > 2× ULN (n = 5; 26-63 years, 40% female) had ~80% maximum mean reductions in biomarker levels. ACTH and A4 were normalized for 60% and 40%, respectively. In both studies, participants with baseline A4 ≤ 2× ULN maintained biomarker levels. AEs (in 53.6% of patients overall) included headache (7.1%) and upper respiratory tract infection (7.1%). Conclusions For patients with 21OHD, up to 12 weeks of oral tildacerfont reduced or maintained key hormone biomarkers toward normal. more...
- Published
- 2021
12. Testosterone Use in Adolescent Males: Current Practice and Unmet Needs
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Jonathan S Jaffe, Sue Hobson, James P Tursi, Alan D. Rogol, and Maria G. Vogiatzi
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puberty ,Pediatrics ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,Population ,030209 endocrinology & metabolism ,Unmet needs ,Food and drug administration ,03 medical and health sciences ,0302 clinical medicine ,medicine ,hypogonadism ,testosterone therapy ,Testosterone replacement ,education ,education.field_of_study ,Mini-Reviews ,030219 obstetrics & reproductive medicine ,business.industry ,Testosterone (patch) ,Additional research ,Androgen Therapy ,Current practice ,testosterone ,business ,adolescent male ,AcademicSubjects/MED00250 - Abstract
Testosterone replacement therapy (TRT) is routinely prescribed in adolescent males with constitutional delay of growth and puberty (CDGP) or hypogonadism. With many new testosterone (T) formulations entering the market targeted for adults, we review current evidence and TRT options for adolescents and identify areas of unmet needs. We searched PubMed for articles (in English) on testosterone therapy, androgens, adolescence, and puberty in humans. The results indicate that short-term use of T enanthate (TE) or oral T undecanoate is safe and effective in inducing puberty and increasing growth in males with CDGP. Reassuring evidence is emerging on the use of transdermal T to induce and maintain puberty. The long-term safety and efficacy of TRT for puberty completion and maintenance have not been established. Current TRT regimens are based on consensus and expert opinion, but evidence-based guidelines are lacking. Limited guidance exists on when and how T should be administered and optimal strategies for monitoring therapy once it is initiated. Only TE and T pellets are US Food and Drug Administration approved for use in adolescent males in the United States. Despite the introduction of a wide variety of new T formulations, they are designed for adults, and their metered doses are difficult to titrate in adolescents. In conclusion, TRT in adolescent males is hindered by lack of long-term safety and efficacy data and limited options approved for use in this population. Additional research is needed to identify the route, dose, duration, and optimal timing for TRT in adolescents requiring androgen therapy. more...
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- 2020
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13. Crinecerfont (NBI-74788), a novel CRF1 receptor antagonist, reduces adrenal androgens and precursors in patients with classic congenital adrenal hyperplasia: Results from a phase 2, multiple-dose study
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Kyriakie Sarafoglou, Patricia Y. Fechner, Eiry Roberts, Richard J. Auchus, Julia Sturgeon, Robert Farber, Nagdeep Giri, and Maria G. Vogiatzi
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medicine.medical_specialty ,Endocrinology ,business.industry ,Internal medicine ,Crf1 receptor ,Classic Congenital Adrenal Hyperplasia ,medicine ,Antagonist ,In patient ,Multiple dose ,business - Published
- 2020
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14. Skin-to-Skin Care Is a Safe and Effective Comfort Measure for Infants Before and After Neonatal Cardiac Surgery
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Amy Jo Lisanti, Maria G. Vogiatzi, Andrew T. Costarino, Ryan Quinn, Abigail C Demianczyk, Rebecca Hoffman, Barbara Medoff-Cooper, and Jesse Chittams
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medicine.medical_specialty ,Demographics ,Hydrocortisone ,Skin to skin ,Psychological intervention ,Vital signs ,Mothers ,Pain ,Convenience sample ,Critical Care and Intensive Care Medicine ,Article ,03 medical and health sciences ,0302 clinical medicine ,030225 pediatrics ,medicine ,Humans ,Critical congenital heart disease ,Cardiac Surgical Procedures ,skin and connective tissue diseases ,Child ,integumentary system ,business.industry ,Infant, Newborn ,Infant ,030208 emergency & critical care medicine ,Infant pain ,Skin Care ,Cardiac surgery ,Anesthesia ,Pediatrics, Perinatology and Child Health ,Female ,business - Abstract
To determine the effect of skin-to-skin care on stress, pain, behavioral organization, and physiologic stability of infants with critical congenital heart disease before and after neonatal cardiac surgery.A baseline response-paired design was used, with infants acting as their own controls before, during, and after skin-to-skin care at two distinct time points: once in the preoperative period (T1) and once in the postoperative period (T2).Cardiac ICU and step-down unit in a large metropolitan freestanding children's hospital.Convenience sample of 30 infants admitted preoperatively for critical congenital heart disease.Eligible infants were placed into skin-to-skin care for 1 hour with their biological mothers once each at T1 and T2.Measurements of stress (salivary cortisol), pain and behavior state (COMFORT scale), and physiologic stability (vital signs) were assessed immediately before skin-to-skin care, 30 minutes into skin-to-skin care, and 30 minutes after skin-to-skin care ended.At both T1 and T2, infant pain scores were significantly decreased (p0.0001) and infants moved into a calmer behavior state (p0.0001) during skin-to-skin care as compared to baseline. At T1, infants also had significantly reduced heart rate (p = 0.002) and respiratory rate (p0.0001) and increased systolic blood pressure (p = 0.033) during skin-to-skin care. At both T1 and T2, infant cortisol remained stable and unchanged from pre-skin-to-skin care to during skin-to-skin care (p = 0.096 and p = 0.356, respectively), and significantly increased from during skin-to-skin care to post-skin-to-skin care (p = 0.001 and p = 0.023, respectively). Exploratory analysis revealed differences in cortisol reactivity for infants with higher baseline cortisol (0.3 μg/dL) versus lower (≤ 0.3 μg/dL) prior to skin-to-skin care. Infants with higher baseline cortisol at T2 experienced significantly reduced cortisol during skin-to-skin care (p = 0.025). No significant differences in demographics or baseline variables were found between infants in either group.Skin-to-skin care is a low-cost, low-risk intervention that promotes comfort and supports physiologic stability in infants before and after neonatal cardiac surgery. more...
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- 2020
15. Recommendations from the international evidence-based guideline for the assessment and management of polycystic ovary syndrome
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Joop S.E. Laven, Kathleen M. Hoeger, Nigel K. Stepto, Bulent O. Yildiz, Kate Marsh, Ricardo Azziz, Angelica Lindén Hirschberg, Adam H. Balen, Juha S. Tapanainen, Jane Speight, Roger Hart, Eszter Vanky, Angela Wan, Shakila Thangaratinam, Bart C.J.M. Fauser, Rong Li, Luigi Devoto, Lisa J. Moran, Leah Brennan, Edgar Mocanu, Duru Shah, Jie Qiao, Michael F. Costello, Elisabet Stener-Victorin, Darren Mansfield, Mala Thondan, Rachel Hawkes, Anju E. Joham, Jane Woolcock, Marla E. Lujan, Sasha Ottey, Rhonda Garad, Samantha K. Hutchison, Poli Mara Spritzer, Helena J. Teede, Raymond J. Rodgers, Eliza C. Tassone, Estifanos Baye, Daniela Romualdi, Leanne M. Redman, Richard S. Legro, Chii Ruey Tzeng, Veryan McAllister, Jaideep Malhotra, Stephen Franks, Frank J.M. Broekmans, Ben W.J. Mol, Preeti Dabadghao, Cheryce L. Harrison, Sharon E. Oberfield, Robert J. Norman, Terhi Piltonen, Ernest Hung Yu Ng, Selma F. Witchel, Luk Rombauts, Maria G. Vogiatzi, Louise Johnson, Marianne Andersen, Cailin Jordan, Melanie Gibson-Helm, Chandrika N Wijeyaratne, Zephne M van der Spuy, Linda Downes, Femke P Hohmann, Anuja Dokras, Jayashri Kulkarni, Alexia S Peña, Marie Misso, Didier Dewailly, Jacqueline Boyle, Obstetrics & Gynecology, Reproductive Disease Modeling, Clinicum, Department of Obstetrics and Gynecology, HUS Gynecology and Obstetrics, and Çocuk Sağlığı ve Hastalıkları more...
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Internationality ,Endocrinology, Diabetes and Metabolism ,assessment ,Evidence-Based Medicine/methods ,Guideline ,Endocrinology ,PHYSICIANS ,0302 clinical medicine ,Risk Factors ,Pregnancy ,3123 Gynaecology and paediatrics ,Health care ,Obstetrics and Gynaecology ,PCOS ,030212 general & internal medicine ,Disease management (health) ,Polycystic ovary syndrome ,Evidence-Based Medicine ,030219 obstetrics & reproductive medicine ,Rehabilitation ,WOMEN ,Disease Management ,Obstetrics and Gynecology ,Polycystic ovary ,ESHRE Pages ,Management ,3. Good health ,Diabetes and Metabolism ,GRADE ,Practice Guidelines as Topic ,Professional association ,Female ,Psychology ,Infertility, Female ,guideline ,management ,Adult ,Evidence-based practice ,Adolescent ,Best practice ,DIAGNOSTIC-CRITERIA ,SOCIETY ,Polycystic Ovary Syndrome/complications ,030209 endocrinology & metabolism ,Assessment ,Article ,Young Adult ,03 medical and health sciences ,Quality of life (healthcare) ,evidence-based ,Infertility, Female/etiology ,Humans ,Medical education ,business.industry ,Australia ,Reproductive Medicine ,polycystic ovary syndrome ,HEALTH-CARE ,Quality of Life ,business ,Evidence-based - Abstract
STUDY QUESTION: What is the recommended assessment and management of women with polycystic ovary syndrome (PCOS), based on the best available evidence, clinical expertise and consumer preference?SUMMARY ANSWER: International evidence-based guidelines, including 166 recommendations and practice points, addressed prioritized questions to promote consistent, evidence-based care and improve the experience and health outcomes of women with PCOS.WHAT IS KNOWN ALREADY: Previous guidelines either lacked rigorous evidence-based processes, did not engage consumer and international multidisciplinary perspectives, or were outdated. Diagnosis of PCOS remains controversial, and assessment and management are inconsistent. The needs of women with PCOS are not being adequately met and evidence practice gaps persist.STUDY DESIGN, SIZE, DURATION: International evidence-based guideline development engaged professional societies and consumer organizations with multidisciplinary experts and women with PCOS directly involved at all stages. Appraisal of Guidelines for Research and Evaluation (AGREE) II-compliant processes were followed, with extensive evidence synthesis. The Grading of Recommendations, Assessment, Development and Evaluation (GRADE) framework was applied across evidence quality, feasibility, acceptability, cost, implementation and ultimately recommendation strength.PARTICIPANTS/MATERIALS, SETTING, METHODS: Governance included a six continent international advisory and a project board, five guideline development groups, and consumer and translation committees. Extensive health professional and consumer engagement informed guideline scope and priorities. Engaged international society-nominated panels included pediatrics, endocrinology, gynecology, primary care, reproductive endocrinology, obstetrics, psychiatry, psychology, dietetics, exercise physiology, public health and other experts, alongside consumers, project management, evidence synthesis and translation experts. In total, 37 societies and organizations covering 71 countries engaged in the process. Twenty face-to-face meetings over 15 months addressed 60 prioritized clinical questions involving 40 systematic and 20 narrative reviews. Evidence-based recommendations were developed and approved via consensus voting within the five guideline panels, modified based on international feedback and peer review, with final recommendations approved across all panels.MAIN RESULTS AND THE ROLE OF CHANCE: The evidence in the assessment and management of PCOS is generally of low to moderate quality. The guideline provides 31 evidence based recommendations, 59 clinical consensus recommendations and 76 clinical practice points all related to assessment and management of PCOS. Key changes in this guideline include: (i) considerable refinement of individual diagnostic criteria with a focus on improving accuracy of diagnosis; (ii) reducing unnecessary testing; (iii) increasing focus on education, lifestyle modification, emotional wellbeing and quality of life; and (iv) emphasizing evidence based medical therapy and cheaper and safer fertility management.LIMITATIONS, REASONS FOR CAUTION: Overall evidence is generally low to moderate quality, requiring significantly greater research in this neglected, yet common condition, especially around refining specific diagnostic features in PCOS. Regional health system variation is acknowledged and a process for guideline and translation resource adaptation is provided.WIDER IMPLICATIONS OF THE FINDINGS: The international guideline for the assessment and management of PCOS provides clinicians with clear advice on best practice based on the best available evidence, expert multidisciplinary input and consumer preferences. Research recommendations have been generated and a comprehensive multifaceted dissemination and translation program supports the guideline with an integrated evaluation program.STUDY FUNDING/COMPETING INTEREST(S): The guideline was primarily funded by the Australian National Health and Medical Research Council of Australia (NHMRC) supported by a partnership with ESHRE and the American Society for Reproductive Medicine. Guideline development group members did not receive payment. Travel expenses were covered by the sponsoring organizations. Disclosures of conflicts of interest were declared at the outset and updated throughout the guideline process, aligned with NHMRC guideline processes. Full details of conflicts declared across the guideline development groups are available at https://www.monash.edu/medicine/sphpm/mchri/pcos/guideline in the Register of disclosures of interest. Of named authors, Dr Costello has declared shares in Virtus Health and past sponsorship from Merck Serono for conference presentations. Prof. Laven declared grants from Ferring, Euroscreen and personal fees from Ferring, Euroscreen, Danone and Titus Healthcare. Prof. Norman has declared a minor shareholder interest in an IVF unit. The remaining authors have no conflicts of interest to declare. The guideline was peer reviewed by special interest groups across our partner and collaborating societies and consumer organizations, was independently assessed against AGREE-II criteria, and underwent methodological review. This guideline was approved by all members of the guideline development groups and was submitted for final approval by the NHMRC. more...
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- 2018
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16. Behavioral Health Diagnoses in Youth with Differences of Sex Development or Congenital Adrenal Hyperplasia Compared with Controls: A PEDSnet Study
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Anna J. Kerlek, Shanlee M Davis, Beth I. Schwartz, Anna Furniss, Anne E. Kazak, Louise C. Pyle, Laura Pyle, Nathan M. Pajor, Hanieh Razzaghi, Maria G. Vogiatzi, Amanda Dempsey, Brianna Magnusen, Natalie J. Nokoff, Rachel Sewell, Dimitri A. Christakis, and Cindy L. Buchanan more...
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Male ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Databases, Factual ,Developmental Disabilities ,Disorders of Sex Development ,Child Behavior Disorders ,Logistic regression ,Article ,Odds ,Risk Factors ,Intellectual disability ,Odds Ratio ,medicine ,Electronic Health Records ,Humans ,Congenital adrenal hyperplasia ,Medical diagnosis ,Child ,Propensity Score ,Generalized estimating equation ,Depression (differential diagnoses) ,Adrenal Hyperplasia, Congenital ,business.industry ,Mental Disorders ,Infant, Newborn ,Infant ,medicine.disease ,Logistic Models ,Neurodevelopmental Disorders ,Case-Control Studies ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Anxiety ,Female ,medicine.symptom ,business - Abstract
OBJECTIVE: To evaluate the odds of a behavioral health diagnosis among youth with a difference of sex development (DSD) or congenital adrenal hyperplasia (CAH) compared with matched controls in the PEDSnet database. STUDY DESIGN: All youth with a diagnosis of DSD (n=1,216) or CAH (n=1,647) and at least one outpatient encounter were extracted from the PEDSnet database and propensity-score matched on 8 variables (1:4) to controls (n=4,864 and 6,588, respectively) using multivariable logistic regression. The likelihood of having behavioral health diagnoses was examined using generalized estimating equations. RESULTS: Youth with a DSD had higher odds of a behavioral health diagnosis (OR: 1.7 [95% CI: 1.4, 2.1], p more...
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- 2021
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17. Perioperative stress dose steroid management of children with classical congenital adrenal hyperplasia: Too much or too little?
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Maria G. Vogiatzi, Dix P. Poppas, Mabel Yau, Karen Lin-Su, Oksana Lekarev, Marianne Jacob, Sarah Orton, Saroj Nimkarn, and Joy D. Howell
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Body surface area ,Adrenal Hyperplasia, Congenital ,Hydrocortisone ,business.industry ,Urology ,Urinary system ,Perioperative ,medicine.disease ,Anesthesia ,Stress Dose Steroid ,Acute Disease ,Pediatrics, Perinatology and Child Health ,Humans ,Medicine ,Observational study ,Congenital adrenal hyperplasia ,Prospective Studies ,Dosing ,Child ,business ,Glucocorticoids ,medicine.drug - Abstract
Summary Background Children with congenital adrenal hyperplasia (CAH) are at risk for adrenal crises in the perioperative period and require higher doses of glucocorticoids. However, there are no specific protocols detailing the appropriate stress dosing required for children with CAH undergoing surgery with anesthesia. Objective To evaluate CAH patients using our current hydrocortisone stress dose surgical protocol. We hypothesized that current clinical protocols may overestimate the endogenous response to perioperative stress. Study design 14 children with CAH scheduled to have genital surgery and a control group of 10 unaffected children scheduled to have cardiac or urologic surgery (of a similar duration) were evaluated in a prospective observational study. Urinary free cortisol (UFC) and urinary 17-hydroxycorticosteroids (17-OHCS) per body surface area were measured in the postoperative period. Results UFC levels were significantly higher in CAH patients (115.8 ± 24.6 nmol/m2) than in controls (26.5 ± 12.2 nmol/m2), P Conclusion In the immediate postoperative period, urinary cortisol and its metabolites are significantly higher in pediatric CAH patients receiving stress dose corticosteroids compared to controls. Results suggest that the amount of hydrocortisone given during our stress dose protocol may be higher than physiologic needs. Future dynamic studies are needed to determine appropriate perioperative and postoperative cortisol requirements in pediatric CAH patients in order to develop optimal stress dose regimens. Download : Download high-res image (137KB) Download : Download full-size image Summary Figure . Urinary free cortisol per body surface area. more...
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- 2021
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18. Endocrine Management of Ovotesticular DSD, an Index Case and Review of the Literature
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Marissa J, Kilberg, Michelle, McLoughlin, Louisa C, Pyle, and Maria G, Vogiatzi
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Male ,endocrine system ,Sexual Development ,Humans ,Infant ,Female ,Testicular Diseases ,Article ,Ovotesticular Disorders of Sex Development - Abstract
Ovotesticular Differences in Sexual Development (OT-DSD) is a rare subset of DSD with great phenotypic variability characterized by the presence of both testicular and ovarian tissue in the same individual. Here, we describe the case of 46,XX, SRY-negative baby with ambiguous genitalia and ovotestis discovered during laparoscopy. As the family decided on female gender of rearing, the testicular component of the ovotestis was removed while the ovarian component was preserved. Stemming from this case, we review the clinical presentation of OT-DSD throughout ages, the role of genetics and risk for gonadal tumors when making decisions about prophylactic gonadectomy. Finally, we summarize the most recent information of the spontaneous endocrine function, with or without conservative therapy, and fertility potential of people with OT-DSD. more...
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- 2019
19. Adolescent polycystic ovary syndrome according to the international evidence-based guideline
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Rhonda Garad, Alexia S Peña, Helena J. Teede, Preeti Dabadghao, Sharon E. Oberfield, Selma F. Witchel, Kathleen M. Hoeger, Marie Misso, and Maria G. Vogiatzi
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Pediatrics ,medicine.medical_specialty ,Evidence-based practice ,Adolescent ,medicine.medical_treatment ,media_common.quotation_subject ,Girls ,lcsh:Medicine ,030209 endocrinology & metabolism ,Guidelines as Topic ,Guideline ,Adolescents ,03 medical and health sciences ,0302 clinical medicine ,Diagnosis ,medicine ,Humans ,Child ,Menstrual cycle ,Polycystic ovary syndrome ,media_common ,030219 obstetrics & reproductive medicine ,business.industry ,lcsh:R ,Hyperandrogenism ,General Medicine ,medicine.disease ,Polycystic ovary ,3. Good health ,Treatment ,Eating disorders ,Menarche ,Female ,Combined oral contraceptive pill ,business ,Evidence-based - Abstract
Background Diagnosing polycystic ovary syndrome (PCOS) during adolescence is challenging because features of normal pubertal development overlap with adult diagnostic criteria. The international evidence-based PCOS Guideline aimed to promote accurate and timely diagnosis, to optimise consistent care, and to improve health outcomes for adolescents and women with PCOS. Methods International healthcare professionals, evidence synthesis teams and consumers informed the priorities, reviewed published data and synthesised the recommendations for the Guideline. The Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) framework was applied to appraise the evidence quality and the feasibility, acceptability, cost, implementation and strength of the recommendations. Results This paper focuses on the specific adolescent PCOS Guideline recommendations. Specific criteria to improve diagnostic accuracy and avoid over diagnosis include: (1) irregular menstrual cycles defined according to years post-menarche; > 90 days for any one cycle (> 1 year post-menarche), cycles 45 days (> 1 to 35 days (> 3 years post-menarche) and primary amenorrhea by age 15 or > 3 years post-thelarche. Irregular menstrual cycles ( Conclusions Extensive international engagement accompanied by rigorous processes honed both diagnostic criteria and treatment recommendations for PCOS during adolescence. more...
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- 2019
20. Histrelin Implantation and Growth Outcomes in Children With Congenital Adrenal Hyperplasia: An Institutional Experience
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Vaneeta Bamba, Maria G. Vogiatzi, Craig A. Alter, Barbara E Coons, Michael L. Nance, and Robert A. Swendiman
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medicine.medical_specialty ,puberty ,histrelin ,Endocrinology, Diabetes and Metabolism ,Population ,Urology ,Controlled studies ,medicine ,Precocious puberty ,Congenital adrenal hyperplasia ,education ,education.field_of_study ,Clinical Research Article ,biology ,Histrelin ,business.industry ,CAH ,21-Hydroxylase ,Retrospective cohort study ,Bone age ,leuprolide ,medicine.disease ,biology.protein ,final height ,business ,medicine.drug - Abstract
Background Children with congenital adrenal hyperplasia (CAH) because of 21 hydroxylase deficiency (21OHD) are at risk for early or precocious puberty and a short adult height compared to population means and midparental height. The effect of histrelin in suppressing puberty and improving growth in these children has not been reported. Methods Retrospective cohort analysis of all patients (age ≤ 20) at our institution who underwent histrelin implantation between 2008 and 2017. Treated patients with CAH (classic and nonclassic forms of 21OHD) were identified and their growth data analyzed. Results Fifteen children with CAH were treated with histrelin for a median of 3 years (range 2–5; age at first implantation 7.7 ± 1.5 years). Bone age (BA) to chronologic age (CA) decreased from 1.57 ± 0.4 to 1.25 ± 0.25 (P < .01), while predicted adult height (PAH) increased by 7.1 ± 6.6 cm (P < .01). A subgroup of 10 children reached adult height. Similar changes in BA/CA and PAH were observed with therapy (P = .02). Adult height z improved compared to pretreatment PAH z (–1.42 ± 0.9 vs. –1.96 ± 1.1 respectively, P < .01), but remained lower than midparental height z (P = .01). Conclusion In this retrospective cohort study of children with CAH due to 21OHD and early or precocious puberty, histrelin implantation resulted in a decrease in BA progression compared to CA and an improvement in PAH. In the subgroup who completed growth, adult height remained significantly lower than midparental. These results need to be confirmed with prospective controlled studies. more...
- Published
- 2019
21. SUN-LB064 A Phase 2, Dose-Escalation, Safety and Efficacy Study of Tildacerfont (SPR001) for the Treatment of Patients with Classic Congenital Adrenal Hyperplasia
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Michael Huang, Ivy-Joan Madu, Kyriakie Sarafoglou, Samer Nakhle, Maria G. Vogiatzi, Erik A. Imel, Alexis Howerton, A. Odugbesan, Alyssa Wu-Zhang, Ron S. Newfield, Rong Lin, Richard J. Auchus, and Kelly Vandever more...
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medicine.medical_specialty ,business.industry ,Endocrinology, Diabetes and Metabolism ,Urology ,medicine ,Classic Congenital Adrenal Hyperplasia ,Dose escalation ,business ,Efficacy Study - Published
- 2019
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22. Menstrual Bleeding as a Manifestation of Mini-Puberty of Infancy in Severe Prematurity
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Maria G. Vogiatzi, Michelle Pitt, Sharon E. Oberfield, and Craig A. Alter
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medicine.medical_specialty ,030209 endocrinology & metabolism ,Article ,Diagnosis, Differential ,Menstruation ,03 medical and health sciences ,Follicle-stimulating hormone ,0302 clinical medicine ,Humans ,Medicine ,030212 general & internal medicine ,Gynecology ,business.industry ,Puberty ,Infant ,Gestational age ,Uterine bleeding ,Menstrual bleeding ,Pediatrics, Perinatology and Child Health ,Female ,Uterine Hemorrhage ,Differential diagnosis ,business ,Luteinizing hormone ,Infant, Premature - Abstract
We report 2 infants with severe prematurity who presented with uterine bleeding at age 6 months (approximately 2.5 months corrected for gestational age). Mini-puberty of infancy should be considered in the differential diagnosis of girls who present with uterine bleeding during the first 6 months of life. more...
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- 2016
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23. Health supervision for people with Bloom syndrome
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Christopher Cunniff, Carolyn Fein Levy, Amir Reza Djavid, Ann G. Zauber, Nathan A. Ellis, Howard M. Lederman, Maria G. Vogiatzi, Steven Carrubba, Michael Walsh, Bernard A. Cohen, and Stacy Jeong
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0301 basic medicine ,Male ,Pediatrics ,medicine.medical_specialty ,Health Planning Guidelines ,Intelligence ,Nutritional Status ,History, 21st Century ,03 medical and health sciences ,0302 clinical medicine ,Child Development ,Chromosome instability ,Neoplasms ,Genetics ,medicine ,Endocrine system ,Humans ,Bloom syndrome ,Public Health Surveillance ,Registries ,Child ,Genetics (clinical) ,Growth deficiency ,business.industry ,Incidence ,Cancer ,Disease Management ,History, 20th Century ,medicine.disease ,Photosensitive skin ,Rash ,030104 developmental biology ,Phenotype ,030220 oncology & carcinogenesis ,Child, Preschool ,Identification (biology) ,Female ,medicine.symptom ,business ,Delivery of Health Care ,Bloom Syndrome - Abstract
Bloom Syndrome (BSyn) is an autosomal recessive disorder that causes growth deficiency, endocrine abnormalities, photosensitive skin rash, immune abnormalities, and predisposition to early-onset cancer. The available treatments for BSyn are symptomatic, and early identification of complications has the potential to improve outcomes. To accomplish this, standardized recommendations for health supervision are needed for early diagnosis and treatment. The purpose of this report is to use information from the BSyn Registry, published literature, and expertise from clinicians and researchers with experience in BSyn to develop recommendations for diagnosis, screening, and treatment of the clinical manifestations in people with BSyn. These health supervision recommendations can be incorporated into the routine clinical care of people with BSyn and can be revised as more knowledge is gained regarding their clinical utility. more...
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- 2018
24. Infertility and Reproductive Function in Patients with Congenital Adrenal Hyperplasia
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Karen Lin-Su, Oksana Lekarev, and Maria G. Vogiatzi
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Infertility ,medicine.medical_specialty ,Pregnancy ,Reproductive function ,business.industry ,Endocrinology, Diabetes and Metabolism ,media_common.quotation_subject ,Fertility ,medicine.disease ,Androgen secretion ,Endocrinology ,Internal medicine ,Spontaneous conception ,medicine ,Congenital adrenal hyperplasia ,business ,Ovulation ,media_common - Abstract
Individuals with congenital adrenal hyperplasia have reduced fertility. However, reproductive outcomes have improved over the years. This review provides an update on the multiple pathologic processes that contribute to reduced fertility in both sexes, from alterations of the hypothalamic-pituitary-gonadal axis to the direct effect on gonadal function by elevated circulating adrenal androgens. In addition, elevated serum progesterone concentrations may hinder ovulation and embryo implantation in women, whereas in men testicular adrenal rest tumors can be a major cause of infertility. Suppression of adrenal androgen secretion represents the first line of therapy toward spontaneous conception in both sexes. more...
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- 2015
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25. Use of selective serotonin reuptake inhibitors and bone mass in adolescents: An NHANES study
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Ashley Thai, Alexis J. Feuer, Maria G. Vogiatzi, and Ryan T. Demmer
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Male ,musculoskeletal diseases ,medicine.medical_specialty ,Histology ,Adolescent ,Physiology ,Endocrinology, Diabetes and Metabolism ,Context (language use) ,behavioral disciplines and activities ,Bone and Bones ,Bone remodeling ,Fractures, Bone ,Young Adult ,Absorptiometry, Photon ,Bone Density ,Risk Factors ,Surveys and Questionnaires ,Internal medicine ,mental disorders ,medicine ,Humans ,Femur ,Child ,Prospective cohort study ,Serotonin transporter ,Femoral neck ,Bone mineral ,Lumbar Vertebrae ,biology ,Femur Neck ,business.industry ,digestive, oral, and skin physiology ,Nutrition Surveys ,United States ,Cross-Sectional Studies ,medicine.anatomical_structure ,Endocrinology ,biology.protein ,Female ,business ,Body mass index ,Selective Serotonin Reuptake Inhibitors - Abstract
Context Selective serotonin reuptake inhibitors (SSRIs) are commonly prescribed medications to treat depression and anxiety. SSRIs exert their effects by inhibiting the serotonin transporter and modulating extracellular serotonin levels, a neurotransmitter that has been shown to affect bone metabolism in animals. Studies in adults suggest a negative association between SSRI use and bone mineral density (BMD), greater rates of bone loss with SSRI use and increased risk of fractures. However, the results on bone mass have been inconsistent. Furthermore, there is a dearth of studies examining an association between SSRI use and bone mass in the pediatric and adolescent age group. Objective To investigate associations between SSRI use and bone mass in adolescents. Design Cross-sectional analysis of data from the 2005–2010 National Health and Nutrition Examination Study (NHANES). Participants 4303 NHANES participants aged 12–20 years. The mean age was 15.65 ± 2.42 years. Main outcomes Total femur, femoral neck and lumbar spine bone mineral content (BMC) and BMD assessed via dual-energy X-ray absorptiometry (DXA). Results 62 out of 4303 subjects used SSRIs. SSRI use was an independent predictor of bone mass after adjusting for age, gender, height and weight Z score, socioeconomic status, physical activity, serum cotinine level and race/ethnicity. After multivariable adjustment, total femur BMC was 8.8% lower among SSRI users versus non-users (mean difference 2.98 g, SE ± 0.105 g, p = 0.0006), while total femur BMD was 6.1% lower (mean difference 0.06 g/cm2, SE ± 0.002 g/cm2, p = 0.016). Femoral neck BMC and BMD and lumbar spine BMC were similarly negatively associated with SSRI use. Compared to nonusers, lumbar spine BMC was 7% lower among SSRI users (mean difference 0.97 g, SE ± 0.048 g, p = 0.02) and BMD was 3.2% lower (mean difference 0.03 g/cm2, SE ± 0.015 g/cm2, p = 0.09). Sub-analysis of those individuals treated for more than 6 months yield similar results. Finally, the association of SSRIs with bone mass persisted after excluding individuals with Body Mass Index (BMI) less than 5th percentile thus accounting for the possible confounding effect of anorexia nervosa, which can be treated with SSRIs. Conclusion In this NHANES study, adolescents treated with SSRIs had lower DXA measurements of the total femur and lumbar spine compared to SSRI non-users. These findings support the need for future prospective studies to examine the effects of SSRI use on bone mass in adolescents. more...
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- 2015
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26. PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism
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Elizabeth T. DeChene, Jennifer Tarpinian, Ahmad N. Abou Tayoun, Shavonne L. Massey, Gozde T. Akgumus, Ingo Helbig, Maria G. Vogiatzi, Kosuke Izumi, Edward J. Romasko, Jorune Balciuniene, Beth Keena, and Elaine H. Zackai more...
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0301 basic medicine ,Male ,Disease ,Biology ,Interference (genetic) ,Protein expression ,03 medical and health sciences ,Epilepsy ,0302 clinical medicine ,Klinefelter Syndrome ,medicine ,Humans ,Gene ,Genetics ,Chromosomes, Human, X ,Mechanism (biology) ,medicine.disease ,Cadherins ,Protocadherins ,030104 developmental biology ,Neurology ,Child, Preschool ,Neurology (clinical) ,Klinefelter syndrome ,030217 neurology & neurosurgery - Abstract
Heterozygous de novo or inherited pathogenic variants in the PCDH19 gene cause a spectrum of neurodevelopmental features including developmental delay and seizures. PCDH19 epilepsy was previously known as "epilepsy and mental retardation limited to females", since the condition almost exclusively affects females. It is hypothesized that the co-existence of two populations of neurons, some with and some without PCDH19 protein expression, results in pathologically abnormal interactions between these neurons, a mechanism also referred to as cellular interference. Consequently, PCDH19-related epilepsies are inherited in an atypical X-linked pattern, such that hemizygous, non-mosaic, 46,XY males are typically unaffected, while individuals with a disease-causing PCDH19 variant, mainly heterozygous females and mosaic males, are affected. As a corollary to this hypothesis, an individual with Klinefelter syndrome (KS) (47,XXY) who has a heterozygous disease-causing PCDH19 variant should develop PCDH19-related epilepsy. Here, we report such evidence: - a male child with KS and PCDH19-related epilepsy - supporting the PCDH19 cellular interference disease hypothesis. more...
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- 2018
27. Health-Related Quality of Life in Children with Congenital Adrenal Hyperplasia
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Karen Lin-Su, Ariana Lewkowitz-Shpuntoff, Mabel Yau, Maria G. Vogiatzi, and Saroj Nimkarn
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Male ,Parents ,congenital, hereditary, and neonatal diseases and abnormalities ,Pediatrics ,medicine.medical_specialty ,Adolescent ,endocrine system diseases ,Health Status ,Endocrinology, Diabetes and Metabolism ,Emotions ,urologic and male genital diseases ,Affect (psychology) ,Peer Group ,Endocrinology ,Quality of life ,Ethnicity ,medicine ,Humans ,Congenital adrenal hyperplasia ,Child ,Social Behavior ,Health related quality of life ,Schools ,Adrenal Hyperplasia, Congenital ,business.industry ,Minimal clinically important difference ,Healthy population ,nutritional and metabolic diseases ,Adrenal crisis ,medicine.disease ,humanities ,Test score ,Pediatrics, Perinatology and Child Health ,Quality of Life ,Female ,medicine.symptom ,business - Abstract
Background/Aims: Factors in congenital adrenal hyperplasia (CAH) that may affect quality of life (QOL) include the need for lifelong medication, the risk of adrenal crisis, and hyperandrogenic symptoms. The objectives were to evaluate health-related QOL (HRQOL) in children with CAH, and whether CAH poses an additional burden compared to other endocrine disorders. Methods: The validated PedsQL 4.0 generic core scales were administered to subjects (8-18 years) with CAH and hypothyroidism and their parents. The minimal clinically important difference (MCID) was determined for each scale score, allowing a comparison with the healthy population. A score of >1 standard deviation below the population mean was considered at risk for impaired HRQOL. Results: In CAH, the mean total HRQOL scores were >1 MCID below the population mean, and a higher percentage than expected had scores considered at risk. Conclusion: Compared to subjects with hypothyroidism, subjects with CAH self-reported lower school domain scores. CAH subjects more frequently reported peers not wanting to be friends. more...
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- 2015
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28. Vitamin D Supplementation and Risk of Toxicity in Pediatrics: A Review of Current Literature
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Maria G, Vogiatzi, Elka, Jacobson-Dickman, Mark D, DeBoer, and Steven M, Willi
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medicine.medical_specialty ,Pediatrics ,Adolescent ,Endocrinology, Diabetes and Metabolism ,Hypercalciuria ,Clinical Biochemistry ,Rickets ,Context (language use) ,Recommended Dietary Allowances ,Biochemistry ,Endocrinology ,Risk Factors ,Internal medicine ,medicine ,Vitamin D and neurology ,Humans ,Vitamin D ,Child ,business.industry ,Incidence (epidemiology) ,Biochemistry (medical) ,Age Factors ,Vitamin D Deficiency ,medicine.disease ,Hypervitaminosis ,Nephrocalcinosis ,Dietary Supplements ,Toxicity ,Hypercalcemia ,business - Abstract
Although vitamin D toxicity is rare in children, increased use of vitamin D formulations, re-examination of optimal vitamin D levels, and use of higher doses lend potential for an increased incidence of vitamin D toxicity.A PubMed search was conducted through May 2013 for cases of vitamin D intoxication and vitamin D trials in pediatrics. Safety data were collected and reviewed.A small number of pediatric studies tested vitamin D doses at or above the currently recommended upper tolerable intake. In children and adolescents, vitamin D excess was rare and usually asymptomatic. Recent cases of intoxication relate to errors in manufacturing, formulation, or prescription; involve high total intake in the range of 240,000 to 4,500,000 IU; and present with severe hypercalcemia, hypercalciuria, or nephrocalcinosis. However, mild hypercalcemia and hypervitaminosis using currently recommended doses have been reported in infants with rickets.Although rare, cases of vitamin D intoxication that present with dramatic life-threatening symptoms still occur in children. Moreover, recent studies in infants raise a potential need for monitoring vitamin D levels when doses at or above the currently recommended upper range are used. Further studies are needed to clarify these findings. The Drugs and Therapeutics Committee of the Pediatric Endocrine Society suggests obtaining serum 25-hydroxyvitamin D levels in infants and children who receive long-term vitamin D supplementation at or above the upper level intake that is currently recommended. more...
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- 2014
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29. Bone Health in Children and Adolescents With Chronic Diseases That May Affect the Skeleton: The 2013 ISCD Pediatric Official Positions
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Mary B. Leonard, M Zulf Mughal, Maria Luisa Bianchi, Susanne Bechtold, Marry M. van den Heuvel-Eibrink, Leanne M Ward, Eckhart Schönau, Maria G. Vogiatzi, Francisco A. Sylvester, Wolfgang Högler, and Pediatrics more...
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musculoskeletal diseases ,medicine.medical_specialty ,Adolescent ,Bone density ,Endocrinology, Diabetes and Metabolism ,Psychological intervention ,Endocrine System Diseases ,Affect (psychology) ,Collagen Type I ,Cerebral palsy ,Fractures, Bone ,Absorptiometry, Photon ,Bone Density ,Risk Factors ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Orthopedics and Sports Medicine ,Renal Insufficiency, Chronic ,Child ,Prospective cohort study ,Bone Marrow Transplantation ,Bone mineral ,business.industry ,Cerebral Palsy ,Osteogenesis Imperfecta ,Precursor Cell Lymphoblastic Leukemia-Lymphoma ,medicine.disease ,Skeleton (computer programming) ,Collagen Type I, alpha 1 Chain ,Osteogenesis imperfecta ,Chronic Disease ,Physical therapy ,Bone Diseases ,business - Abstract
The aim of this Task Force was to review the use of dual-energy X-ray absorptiometry (DXA) in children and adolescents with underlying chronic diseases that pose risk factors for compromised bone health, such as inflammation, glucocorticoid therapy, or decreased mobility. The Task Force systematically analyzed more than 270 studies, with an emphasis on those published in the interval since the original 2007 Position Statements. Important developments over this period included prospective cohort studies demonstrating that DXA measures of areal bone mineral density (aBMD) predicted incident fractures and the development of robust reference data and strategies to adjust for bone size in children with growth impairment. In this report, we summarize the current literature on the relationship between DXA-based aBMD and both fracture (vertebral and non-vertebral) outcomes and non-fracture risk factors (e.g., disease characteristics, ambulatory status, and glucocorticoid exposure) in children with chronic illnesses. Most publications described the aBMD profile of children with underlying diseases, as well as the cross-sectional or longitudinal relationship between aBMD and clinically relevant non-fracture outcomes. Studies that addressed the relationship between aBMD and prevalent or incident fractures in children with chronic illnesses are now emerging. In view of these updated data, this report provides guidelines for the use of DXA-based aBMD in this setting. The initial recommendation that DXA is part of a comprehensive skeletal healthy assessment in patients with increased risk of fracture is unchanged. Although the prior guidelines recommended DXA assessment in children with chronic diseases at the time of clinical presentation with ongoing monitoring, this revised Position Statement focuses on the performance of DXA when the patient may benefit from interventions to decrease their elevated risk of a clinically significant fracture and when the DXA results will influence that management. more...
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- 2014
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30. Renal dysfunction in patients with thalassaemia
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Felicia Trachtenberg, Ellen B. Fung, Ellis J. Neufeld, Janet L. Kwiatkowski, Maria G. Vogiatzi, Hae-Young Kim, Nancy Oliveri, Melanie Kirby, Charles T. Quinn, Patricia J. Giardina, and Valerie L. Johnson more...
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Creatinine ,Kidney ,medicine.medical_specialty ,Proteinuria ,business.industry ,Deferasirox ,Renal function ,Hematology ,urologic and male genital diseases ,medicine.disease ,Gastroenterology ,chemistry.chemical_compound ,medicine.anatomical_structure ,Endocrinology ,chemistry ,hemic and lymphatic diseases ,Internal medicine ,Albuminuria ,Medicine ,Transfusion therapy ,Hypercalciuria ,medicine.symptom ,business ,medicine.drug - Abstract
Little is known about the effects of thalassaemia on the kidney. Characterization of underlying renal function abnormalities in thalassaemia is timely because the newer iron chelator, deferasirox, can be nephrotoxic. We aimed to determine the prevalence and correlates of renal abnormalities in thalassaemia patients, treated before deferasirox was widely available, using 24-h collections of urine. We calculated creatinine clearance and urine calcium-to-creatinine ratio and measured urinary β(2) -microglobulin, albumin, and protein. We used multivariate modelling to identify clinical, therapeutic, and laboratory predictors of renal dysfunction. One-third of thalassaemia patients who were not regularly transfused had abnormally high creatinine clearance. Regular transfusions were associated with a decrease in clearance (P = 0·004). Almost one-third of patients with thalassaemia had hypercalciuria, and regular transfusions were associated with an increase in the frequency and degree of hypercalciuria (P < 0·0001). Albuminuria was found in over half of patients, but was not consistently associated with transfusion therapy. In summary, renal hyperfiltration, hypercalciuria, and albuminuria are common in thalassaemia. Higher transfusion intensity is associated with lower creatinine clearance but more frequent hypercalciuria. The transfusion effect needs to be better understood. Awareness of underlying renal dysfunction in thalassaemia can inform decisions now about the use and monitoring of iron chelation. more...
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- 2011
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31. Differences in the prevalence of growth, endocrine and vitamin D abnormalities among the various thalassaemia syndromes in North America
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Ingrid A. Holm, Maria G. Vogiatzi, Robert W. Grady, Elliott Vichinsky, Patricia J. Giardina, Melody J. Cunningham, Martin Fleisher, Melody Kirby, Janet L. Kwiatkowski, Eric A. Macklin, Nancy F. Olivieri, Charles M. Peterson, Angela M. Cheung, Ellen B. Fung, and Felicia Trachtenberg more...
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Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Thalassemia ,Short stature ,Article ,vitamin D deficiency ,Young Adult ,Somatomedins ,hemic and lymphatic diseases ,Internal medicine ,Prevalence ,medicine ,Vitamin D and neurology ,Humans ,Hypercalciuria ,Child ,Growth Disorders ,Aged ,Subclinical infection ,business.industry ,Hypogonadism ,Hematology ,Middle Aged ,Vitamin D Deficiency ,medicine.disease ,United States ,Cross-Sectional Studies ,Logistic Models ,Hemoglobinopathy ,Endocrinology ,Hypoparathyroidism ,Parathyroid Hormone ,Growth Hormone ,Ferritins ,Linear Models ,Calcium ,Female ,medicine.symptom ,business ,Biomarkers - Abstract
Summary This study aimed to determine differences in the rates of growth, endocrine- and calcium-related abnormalities in the various thalassemia syndromes in North America treated with current therapies. Medical history, physical examinations and blood and urine collections were obtained from patients with all thalassemia syndromes age 6 years and older in the Thalassemia Clinical Research Network. 361 subjects, 49% male, mean age 23·2 years (range 6·1–75 years) were studied. Approximately 25% of children and adults, regardless of the thalassemia syndrome, had short stature. Overall growth in children was mildly affected. Final height was close to midparental height (z = −0·73 ± 1·24). Patients with beta thalassemia major (TM) had higher rates of hypogonadism, multiple endocrinopathies, worse hyperglycaemia, subclinical hypoparathyroidism and hypercalciuria. Hypogonadism remained the most frequent endocrinopathy and was frequently under-treated. 12·8% of the subjects had 25 vitamin D concentrations less than 27 nmol/l and 82% less than 75 nmol/l, regardless of the thalassemia syndrome. Adolescents had lower 25 vitamin D levels than children and adults. Compared to patients with other thalassemia syndromes, those with beta TM suffered from higher rates of multiple endocrinopathies, abnormal calcium metabolism and hypercalciuria. Vitamin D abnormalities were high among adolescents. more...
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- 2009
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32. Bone Disease in Thalassemia: A Frequent and Still Unresolved Problem
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Maria G, Vogiatzi, Eric A, Macklin, Ellen B, Fung, Angela M, Cheung, Elliot, Vichinsky, Nancy, Olivieri, Melanie, Kirby, Janet L, Kwiatkowski, Melody, Cunningham, Ingrid A, Holm, Joseph, Lane, Robert, Schneider, Martin, Fleisher, Robert W, Grady, Charles C, Peterson, Patricia J, Giardina, and Haddy, Jallow more...
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Male ,Aging ,thalassemia ,Pediatrics ,Bone disease ,Bone density ,Endocrinology, Diabetes and Metabolism ,Thalassemia ,Bone remodeling ,Absorptiometry, Photon ,0302 clinical medicine ,Bone Density ,Prevalence ,Orthopedics and Sports Medicine ,Child ,DXA ,Research-Articles ,Organ Size ,fractures ,musculoskeletal system ,3. Good health ,030220 oncology & carcinogenesis ,Regression Analysis ,Spinal Fractures ,Female ,Bone Remodeling ,Bone Diseases ,medicine.symptom ,Adult ,musculoskeletal diseases ,Peak bone mass ,medicine.medical_specialty ,Adolescent ,vertebral morphometry ,Pain ,030209 endocrinology & metabolism ,Bone and Bones ,03 medical and health sciences ,Age Distribution ,BMD ,medicine ,Humans ,Medical history ,Femur ,Bone pain ,business.industry ,medicine.disease ,United States ,Surgery ,Joints ,business ,Biomarkers - Abstract
Adults with beta thalassemia major frequently have low BMD, fractures, and bone pain. The purpose of this study was to determine the prevalence of low BMD, fractures, and bone pain in all thalassemia syndromes in childhood, adolescence, and adulthood, associations of BMD with fractures and bone pain, and etiology of bone disease in thalassemia. Patients of all thalassemia syndromes in the Thalassemia Clinical Research Network, > or =6 yr of age, with no preexisting medical condition affecting bone mass or requiring steroids, participated. We measured spine and femur BMD and whole body BMC by DXA and assessed vertebral abnormalities by morphometric X-ray absorptiometry (MXA). Medical history by interview and review of medical records, physical examinations, and blood and urine collections were performed. Three hundred sixty-one subjects, 49% male, with a mean age of 23.2 yr (range, 6.1-75 yr), were studied. Spine and femur BMD Z-scores < -2 occurred in 46% and 25% of participants, respectively. Greater age, lower weight, hypogonadism, and increased bone turnover were strong independent predictors of low bone mass regardless of thalassemia syndrome. Peak bone mass was suboptimal. Thirty-six percent of patients had a history of fractures, and 34% reported bone pain. BMD was negatively associated with fractures but not with bone pain. Nine percent of participants had uniformly decreased height of several vertebrae by MXA, which was associated with the use of iron chelator deferoxamine before 6 yr of age. In patients with thalassemia, low BMD and fractures occur frequently and independently of the particular syndrome. Peak bone mass is suboptimal. Low BMD is associated with hypogonadism, increased bone turnover, and an increased risk for fractures. more...
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- 2009
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33. Measurement of bone density in the pediatric population
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Ljiljana Bogunovic, Shevaun M. Doyle, and Maria G Vogiatzi
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medicine.medical_specialty ,Bone density ,Osteoporosis ,MEDLINE ,Comorbidity ,Disease ,Pediatrics ,Metabolic bone disease ,Fractures, Bone ,Absorptiometry, Photon ,Bone Density ,Risk Factors ,medicine ,Humans ,Child ,Intensive care medicine ,Bone growth ,Bone mineral ,business.industry ,Age Factors ,Reference Standards ,medicine.disease ,Surgery ,Causality ,Child, Preschool ,Practice Guidelines as Topic ,Pediatrics, Perinatology and Child Health ,business ,Densitometry - Abstract
Purpose of review The purpose of this review is to provide a comprehensive synopsis of pediatric bone density. Osteoporosis of the adult is a well established clinical problem, and algorithms to diagnose and treat this disease are recognized throughout the medical community. Osteoporosis or ‘low bone mass’ in pediatrics, on the other hand, is a rather new and evolving area, with certain unique diagnostic and clinical challenges. Recent findings Recent findings in the literature include benefits and limitations of pediatric bone densitometry techniques, proper interpretation of the results of these various techniques, efforts to establish standards and guidelines for diagnosing low bone mass in children and adolescents, optimization of bone growth and mineral accrual for life, pediatric bone mineral density and fracture risk prediction, as well as a clearer awareness of bone fragility in children. Summary Throughout the last decade, great strides have been made in our understanding of pediatric metabolic bone disease. These will be the focus of this review. more...
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- 2009
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34. Characteristics of Children with Premature Pubarche in the New York Metropolitan Area
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Sonal Bhandari, Maria G. Vogiatzi, Alejandro A. Diaz, and Cristina Sison
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Male ,Pediatrics ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,Puberty, Precocious ,Pubarche ,Childhood obesity ,Premature pubarche ,Endocrinology ,Age Determination by Skeleton ,Humans ,Medicine ,Child ,Retrospective Studies ,Dehydroepiandrosterone Sulfate ,business.industry ,Adrenarche ,Bone age ,Dehydroepiandrosterone ,Overweight ,medicine.disease ,Metropolitan area ,Pubic hair ,Logistic Models ,medicine.anatomical_structure ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,New York City ,business - Abstract
Background: Premature pubarche (PP) is defined as the appearance of pubic hair before 8 years in girls and 9 years in boys, without other signs of puberty. In the USA the prevalence of childhood overweight tripled between 1980 and 2000. An association between overweight and PP has been identified. Methods: We conducted a chart review to identify patients with the diagnosis of PP who were evaluated from July 2000 to October 2005. 38 patients, 29 females and 9 males, were studied. 16 were Caucasian, 11 African-American, 10 Hispanic, and 1 Arab. Age range was 4.3–9.8 years. Auxological features were analyzed. Results: Of the 38, 20 (52.6%) had a BMI >85th percentile. Increased weight was more common among females (62%) and Hispanics (80%). The study group was taller than expected Z = 1.11 ± 0.95 (TH Z = 0.34 ± 0.86). Among the 18 children who had bone age advancement >1.5 years, 10 (56%) had a predicted height Conclusions: In this study we confirmed the correlation between weight gain and PP. We also found that when the bone age was advanced >1.5 years, the predicted adult height was affected. more...
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- 2008
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35. Dual-Energy X-ray Aborptiometry Assessment in Children and Adolescents with Diseases that May Affect the Skeleton: The 2007 ISCD Pediatric Official Positions
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Mary Fewtrell, Maria Luisa Bianchi, Kate A Ward, Maria G. Vogiatzi, Nick Bishop, Jon M. Burnham, Outi Mäkitie, Kathy Kennedy, Nick Shaw, Pierre Braillon, Zulf Mughal, Wolfgang Högler, Justin H Davies, and Rolando Cimaz more...
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Gerontology ,medicine.medical_specialty ,Adolescent ,Endocrinology, Diabetes and Metabolism ,Osteoporosis ,Psychological intervention ,030209 endocrinology & metabolism ,Disease ,Affect (psychology) ,03 medical and health sciences ,Absorptiometry, Photon ,0302 clinical medicine ,Bone Density ,030225 pediatrics ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Orthopedics and Sports Medicine ,Child ,Societies, Medical ,Dual energy ,business.industry ,Task force ,Outcome measures ,medicine.disease ,3. Good health ,Clinical Practice ,Chronic Disease ,Physical therapy ,Bone Diseases ,business - Abstract
The Task Force focusing on the use of dual energy X-ray absorptiometry (DXA) in children and adolescents with diseases that may affect the skeleton reviewed over 300 articles to establish the basis for the Official Positions. A significant number of studies used DXA-based outcome measures to assess the effects of specific interventions and charted the natural history of incremental changes in bone size and mass in specific disease states in children. However, the utility of DXA in clinical practice has not been evaluated systematically, in large part due to the lack of a workable definition for childhood osteoporosis. Thus, in combination with the Official Positions addressing the diagnosis of osteoporosis in children, and the reporting of DXA results in children, this document presents clear guidelines from which clinicians and researchers alike can work. This report delineates a set of disorders in which it is appropriate to use DXA as part of the comprehensive assessment of skeletal health in children and adolescents, and provides guidance concerning the initiation of assessment and the frequency of monitoring. Importantly, this document also highlights significant gaps in our knowledge, emphasizing areas for future research. more...
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- 2008
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36. Management of Classical CAH: From Birth to Adulthood
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Maria G. Vogiatzi
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- 2016
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37. Infertility and Reproductive Function in Patients with Congenital Adrenal Hyperplasia: Pathophysiology, Advances in Management, and Recent Outcomes
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Oksana, Lekarev, Karen, Lin-Su, and Maria G, Vogiatzi
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Male ,Adrenal Hyperplasia, Congenital ,Infertility ,Humans ,Female - Abstract
Individuals with congenital adrenal hyperplasia have reduced fertility. However, reproductive outcomes have improved over the years. This review provides an update on the multiple pathologic processes that contribute to reduced fertility in both sexes, from alterations of the hypothalamic-pituitary-gonadal axis to the direct effect on gonadal function by elevated circulating adrenal androgens. In addition, elevated serum progesterone concentrations may hinder ovulation and embryo implantation in women, whereas in men testicular adrenal rest tumors can be a major cause of infertility. Suppression of adrenal androgen secretion represents the first line of therapy toward spontaneous conception in both sexes. more...
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- 2015
38. A General Pediatric Approach to Evaluating a Short Child
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Maria G. Vogiatzi, Kenneth C. Copeland, and Susan R. Rose
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Pediatrics ,medicine.medical_specialty ,Percentile ,business.industry ,Context (language use) ,Growth curve (biology) ,Short stature ,Assistant professor ,Growth velocity ,Pediatrics, Perinatology and Child Health ,medicine ,Congenital Growth Hormone Deficiency ,medicine.symptom ,Linear growth ,business - Abstract
1. Susan R. Rose, MD* 2. Maria G. Vogiatzi, MD† 3. Kenneth C. Copeland, MD‡ 1. *Professor of Pediatrics, Cincinnati Children’s Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio 2. †Assistant Professor of Pediatrics, New York Presbyterian Hospital/Weill College of Cornell University, New York, NY 3. ‡Professor of Pediatrics, University of Oklahoma Health Science Center, Oklahoma City, Okla After completing this article, readers should be able to: 1. Describe the most critical test for evaluating the growth of a child. 2. Discuss the implications of decreased growth velocity after age 3 years. 3. Name the two most common normal variations resulting in short stature during childhood. 4. Characterize the growth velocities of children who have constitutional delay of growth and adolescence or familial short stature during the first 2 or 3 years after birth. 5. Recognize what a low weight-for-height ratio suggests. 6. List clues suggestive of syndromic or genetic disorders. 7. Describe how children who have congenital growth hormone deficiency may present in the newborn period. Achild’s growth pattern is a strong indicator of his or her general health. However, it may be difficult to distinguish between normal and abnormal growth. The purpose of this review is to highlight differences between growth patterns seen in normal variations of growth and those seen in pathologic conditions. In this review, growth patterns associated with normal variations or pathologic conditions are presented in the context of growth velocity, weight-for-height, and dysmorphic physical features. The most critical factor in evaluating the growth of a child is determining growth velocity (regardless of the absolute height). The simplest method of identifying whether a growth velocity is normal for age is to observe whether the child’s height pattern is “crossing” percentile lines on a linear growth curve. (The most up-to-date growth curves can be found on the Web site of the Centers for Disease Control and Prevention at www.cdc.gov/growthcharts .) Accurate height measurements performed at 6-month intervals and plotted to the year and month of age on the growth curve are an inexpensive means of identifying whether growth velocity is normal. Still more precise determinations of growth rate can be determined by using growth velocity charts. In addition to growth velocity, … more...
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- 2005
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39. Final Adult Height in Children With Congenital Adrenal Hyperplasia Treated With Growth Hormone
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Maria G. Vogiatzi, Oksana Lekarev, Madeleine D. Harbison, Karen Lin-Su, and Maria I. New
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Adult ,Male ,medicine.medical_specialty ,Adolescent ,Body height ,Endocrinology, Diabetes and Metabolism ,Clinical Biochemistry ,Gonadotropin-releasing hormone ,Growth hormone ,Biochemistry ,Gonadotropin-Releasing Hormone ,Endocrinology ,Internal medicine ,Humans ,Medicine ,Congenital adrenal hyperplasia ,Prospective Studies ,Prospective cohort study ,Child ,Adrenal Cortex Diseases ,Adrenal Hyperplasia, Congenital ,Endocrine Care ,Human Growth Hormone ,business.industry ,Patient Selection ,Biochemistry (medical) ,Obstetrics and Gynecology ,General Medicine ,medicine.disease ,Body Height ,Adult height ,Treatment Outcome ,El Niño ,Female ,business ,hormones, hormone substitutes, and hormone antagonists - Abstract
Patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency typically reach a final adult height well below their mid-parental target height.The objective of this study was to examine whether GH alone or in combination with an LHRH analog (LHRHa) improved the final adult height in patients with CAH.The study was a nonrandomized prospective study.The study was conducted at two university hospitals in New York City, NY.Thirty-four patients with CAH treated with GH participated in this study. Nineteen males and 15 females who were predicted to be more than 2 SD below their mid-parental target height or more than 2 SD below the population mean received GH until reaching final adult height. In addition to GH, 27 patients (16 males, 11 females) were also treated with an LHRHa.The mean duration of GH treatment was 5.6 ± 1.8 yr in males and 4.5 ± 1.6 yr in females. The mean duration of LHRHa therapy was 3.7 ± 1.7 yr for both sexes.The primary endpoint variables were final adult height, final height discrepancy, and gain in height.Males reached a significantly higher final adult height (172.0 ± 4.8 cm) than their initial predicted height (162.8 ± 7.7 cm) (P0.00001). Females also reached a significantly higher final adult height (162.2 ± 5.3 cm) than initially predicted (151.7 ± 5.2 cm) (P0.0000001). Mean gain in height was 9.2 ± 6.7 cm in males and 10.5 ± 3.7 cm in females.Our results indicate that GH alone or in combination with LHRHa improves final adult height in patients with CAH. more...
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- 2011
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40. Advances in diagnosis and care of persons with DSD over the last decade
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Christopher P. Houk, Peter A. Lee, Stephen M. Rosenthal, Maria G. Vogiatzi, Laurence S. Baskin, Eric Vilain, and Amy B. Wisniewski
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medicine.medical_specialty ,Medical education ,Gender & Development ,business.industry ,Sex assignment ,Consensus conference ,medicine.disease ,3. Good health ,5. Gender equality ,Social force ,Transgender ,Research studies ,medicine ,Disorders of sex development ,Full disclosure ,Psychiatry ,business - Abstract
It is clear that the major issues raised by the Chicago Disorders of Sex Development (DSD) Consensus meeting primarily the need of more data, especially outcome information, are still not available. Hence, there are insufficient data to merit another consensus statement. However, there has been a major shift in the thinking and approach to the care of patients with DSD. This was a consequence of the emphasis of the need to reconsider the criteria for sex assignment, to incorporate new genetic and hormonal knowledge in the care, and to investigate impact of surgical timing and techniques. Much of the reconsideration is in response to patient, family, social and legal demands, including the need for full disclosure and family or individual participation in decisions. Further, there remains a lack of sufficient information to provide predictors for future gender development. Hence, it still is impossible to develop specific clinical guidelines to apply to patients generally or individually. Thus, it is pertinent to periodically evaluate and assess some of these multifaceted changes. This report discusses cultural and social forces, legal factors, surgical perspectives, treatment shifts including psychological approaches, progress regarding genetic diagnosis, gender issue comparisons with transgender patients, and on-going research studies occurring since the consensus conference. more...
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- 2014
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41. Long Term Outcome in Adult Males with Classic Congenital Adrenal Hyperplasia1
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Maria G. Vogiatzi, Maria I. New, and Monina S. Cabrera
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Infertility ,medicine.medical_specialty ,Adrenal Rest Tumor ,medicine.diagnostic_test ,business.industry ,Endocrinology, Diabetes and Metabolism ,Biochemistry (medical) ,Clinical Biochemistry ,Bone age ,Semen analysis ,medicine.disease ,Biochemistry ,Short stature ,Endocrinology ,Testicular adrenal rest tumor ,Internal medicine ,medicine ,medicine.symptom ,Complication ,business ,Testosterone - Abstract
The effects of classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency on final height and fertility were evaluated in 30 affected males, aged 17-43 yr. The mean adult height of these patients was 165.64 +/- 8.4 cm (mean +/- SD), with a mean SD score of -1.65 +/- 1.2 cm. The difference between the mean final height SD score and mean target height SD score was -1.67 +/- 1.0 cm. All patients had short stature and did not reach their estimated target heights. There was no difference in height SD score between the salt-wasting and simple virilizing CAH patients. No correlation between the final height and degree of hormonal control or bone age advancement was observed. Of the 30 subjects, 18 had testicular sonograms. Abnormal sonogram findings of testicular adrenal rests were present in 9 patients (group 1), whereas sonogram without adrenal rests comprised the remaining 9 patients (group 2). In group 1, 8 of 9 patients and in group 2, 4 of 9 patients were salt-wasters; the remainder were simple virilizers. In group 1, 7 of 9 patients had semen analysis, and all were judged infertile. Of the 6 patients in group 2 who had semen analysis, 1 was azoospermic, and the remainder were normal. During optimal adrenal hormone suppression, gonadotropins at baseline and after GnRH stimulation were significantly higher in group 1 than in group 2, reflecting the loss of Leydig cell function to secrete testosterone. In conclusion, adult males affected with CAH due to 21-hydroxylase deficiency do not achieve the height predicted from parental heights. The presence of adrenal rests within the testes of adult males with classic CAH are more frequent in the salt-wasting form and are associated with a higher risk for infertility. more...
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- 2001
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42. Growth Hormone Therapy Alone or in Combination with Gonadotropin-Releasing Hormone Analog Therapy to Improve the Height Deficit in Children with Congenital Adrenal Hyperplasia1
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Maria I. New, Madeleine D. Harbison, Jose Bernardo Quintos, and Maria G. Vogiatzi
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medicine.medical_specialty ,Chemotherapy ,business.industry ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,Biochemistry (medical) ,Clinical Biochemistry ,Bone age ,Growth hormone ,medicine.disease ,Biochemistry ,Short stature ,Gonadotropin-releasing hormone analog ,Endocrinology ,El Niño ,Internal medicine ,medicine ,Congenital adrenal hyperplasia ,medicine.symptom ,business ,Glucocorticoid ,medicine.drug - Abstract
Short stature in the adult patient with congenital adrenal hyperplasia (CAH) is commonly seen, even among patients in excellent adrenal control during childhood and puberty. In this study we examine the effect of GH therapy on height prediction in children with both CAH and compromised height prediction. Leuprolide acetate, a GnRH analog (GnRHa), was given to patients with evidence of early puberty. GH (n = 12) or the combination of GH and GnRHa (n = 8) was administered to 20 patients with CAH while they continued therapy with glucocorticoids. Each patient in the treatment group was matched according to age, sex, bone age, puberty, and type of CAH with another CAH patient treated only with glucocorticoid replacement. The match was made at the start of GH treatment. Of the 20 patients, 12 have completed 2 yr of therapy. After 1 yr of GH or combination GH and GnRHa therapy, the mean growth rate increased from 5 ± 1.9 to 7.8 ± 1.6 cm/yr vs. 5.4 ± 1.7 to 5 ± 2 cm/yr in the group not receiving GH (P < 0.0001).... more...
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- 2001
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43. The Short Child
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Kenneth C. Copeland and Maria G. Vogiatzi
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Pediatrics ,medicine.medical_specialty ,Adolescent ,business.industry ,Body Weight ,Hypoglycemia ,medicine.disease ,Growth hormone ,Short stature ,Body Height ,Decreased height ,Normal variation ,Pediatrics, Perinatology and Child Health ,medicine ,Humans ,Obesity ,General health ,medicine.symptom ,Child ,Growth Substances ,Linear growth ,business ,Growth Disorders ,Familial short stature - Abstract
1. Maria G. Vogiatzi, MD* 2. Kenneth C. Copeland, MD† 1. 2. *Instructor of Pediatrics, New York Hospital-Cornell Medical College, New York, NY. 3. 4. †Professor of Pediatrics, Baylor College of Medicine, Houston, TX. 1. Determination of height velocity is the most critical factor in evaluating the growth of a child. 2. A decreased height velocity after the third year of life indicates pathology unless proven otherwise. 3. Constitutional delay of growth and adolescence (CDGA) and familial short stature (FSS), the two most common entities associated with short stature, are characterized by deceleration of linear growth during the first 2 or 3 years of life. 4. Weight-for-height ratio may help distinguish “systemic” disorders (including gastrointestinal, renal, cardiopulmonary, and immunologic) from endocrinopathies. 5. Dysmorphic features are variable but important clues supportive of a diagnosis of genetic disorders. 6. Children who have congenital growth hormone (GH) deficiency often present in the newborn period with hypoglycemia in combination with prolonged hyperbilirubinemia. Growth represents a sentinel for the general health of a child. However, the distinction between normal and abnormal growth may be difficult to make at times. The purpose of this review is to highlight differences between growth patterns associated with normal variations and those associated with pathologic conditions. A method of categorizing growth patterns is used that is based principally on analyses of height velocity, weight for height, and abnormal physical features. Determination of height velocity is the single most critical factor in evaluating the growth of a child, and the simplest way to determine whether a height velocity is normal for age is to observe whether a height is “crossing” percentiles on the linear growth curve. Weight-for-height ratio may be helpful in distinguishing “systemic” disorders (including gastrointestinal, renal, cardiopulmonary, and immunologic) from endocrinopathies. The short child who has one of the “systemic” disorders typically is short and thin; the child who has an endocrinopathy usually is short and well-nourished or frankly obese. Dysmorphic features, disproportionate shortening, a history of intrauterine growth retardation (IUGR), and mental retardation are variable but important clues … more...
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- 1998
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44. Differential diagnosis and therapeutic options for ambiguous genitalia
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Maria G. Vogiatzi and Maria I. New
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Ambiguous genitalia ,Endocrinology ,business.industry ,Endocrinology, Diabetes and Metabolism ,Internal Medicine ,Medicine ,Sex organ ,Differential diagnosis ,business ,Bioinformatics - Abstract
Sexual differentiation is a multistep process in which genetic information is translated into phenotype. Disorders in any of these steps can result in ambiguity of the genitalia. The differential diagnosis requires a systematic approach, with determination of the genetic sex (karyotype), careful description of the internal genital structures, and determination of the hormonal milieu. Confirmation of the diagnosis with molecular and biologic studies is now possible in many disorders of intersex. This article provides a review of the differential diagnosis and therapeutic options of disorders causing ambiguous genitalia, with emphasis on new developments in the field. more...
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- 1998
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45. Effect of ethosuximide on cortisol metabolism in the treatment of congenital adrenal hyperplasia
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Mabel Yau, Maria G. Vogiatzi, Niva Rao, and Saroj Nimkarn
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medicine.medical_specialty ,Hydrocortisone ,Endocrinology, Diabetes and Metabolism ,Anti-Inflammatory Agents ,Cushingoid ,Epilepsy ,Endocrinology ,Internal medicine ,medicine ,Humans ,Drug Interactions ,Congenital adrenal hyperplasia ,Child ,Adrenal Hyperplasia, Congenital ,biology ,business.industry ,Standard treatment ,21-Hydroxylase ,medicine.disease ,Ethosuximide ,Epilepsy, Absence ,Pediatrics, Perinatology and Child Health ,biology.protein ,Anticonvulsants ,Female ,Epilepsy, Tonic-Clonic ,business ,Glucocorticoid ,medicine.drug - Abstract
Background Antiepileptics may affect cortisol metabolism through CYP3A4. There is little known about ethosuximide. Clinical case Our patient is a 12-year-old girl with salt-wasting congenital adrenal hyperplasia (CAH) owing to 21 hydroxylase deficiency. A standard treatment regimen was initiated with satisfactory results until the age of 6 years, when she developed absence seizures treated with ethosuximide. She received such therapy until the age of 12 years, at which point ethosuximide was discontinued. During ethosuximide administration, she experienced worsening control of CAH disease activity that responded to progressive increases in hydrocortisone dose up to 28 mg/m2 per day. Despite high doses of hydrocortisone, she suffered no cushingoid symptoms. Her requirements for high glucocorticoid replacement doses resolved shortly after ethosuximide was discontinued. We provide data over 6 years demonstrating a correlation between adrenal hormone secretion, cortisol requirements and ethosuximide dose. Conclusion This is the first case demonstrating an interaction between ethosuximide and hydrocortisone clearance in the treatment of salt-wasting CAH. more...
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- 2014
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46. Insulin Does Not Stimulate Protein Synthesis Acutely in Prepubertal Children with Insulin-Dependent Diabetes Mellitus1
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Kenneth C. Copeland, Philip R. Beckett, K. Sreekumaran Nair, and Maria G. Vogiatzi
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chemistry.chemical_classification ,Autoimmune disease ,medicine.medical_specialty ,business.industry ,Endocrinology, Diabetes and Metabolism ,Insulin ,medicine.medical_treatment ,Biochemistry (medical) ,Clinical Biochemistry ,Fatty acid ,medicine.disease ,Biochemistry ,Pathophysiology ,Protein catabolism ,Endocrinology ,chemistry ,Diabetes mellitus ,Internal medicine ,medicine ,Leucine ,business ,Pancreatic hormone - Abstract
Insulin treatment in adult type I diabetic patients decreases protein loss primarily by inhibiting protein breakdown without stimulating protein synthesis. In young growing rodents, insulin treatment has been reported to stimulate protein synthesis. We examined whether insulin stimulates protein synthesis in normally growing prepubertal children with insulin-dependent diabetes mellitus. Five prepubertal children with insulin-dependent diabetes mellitus (aged 8.6–11.25 yr) were studied in the postabsorptive state on two occasions: once during insulin deprivation (I−; blood glucose, 325 ± 67.8 mg/dL; mean ± sd) and once during insulin administration for 4 h (I+; blood glucose, 96 ± 23.6 mg/dL). Leucine kinetics were measured using a 4-h primed continuous infusion of l-[1-13C]leucine. Serum insulin concentrations were lower (I− vs. I+, 0.6 ± 0.3 vs. 7.5 ± 4.3 μU/mL; mean± sd; P = 0.02), whereas serumβ -hydroxybutyrate (I− vs. I+, 3.4 ± 0.5 vs. 0.9 ± 0.5 mg/dL; P < 0.001) and free fatty acid concentrations (I... more...
- Published
- 1997
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47. The effect of vitamin D supplementation on calcium excretion in thalassemia
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Dorothy A. Kleinert, Rachel Randolph, Maria G. Vogiatzi, Sadana Balachandar, Patricia J. Giardina, and Sujit Sheth
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medicine.medical_specialty ,Vitamin d supplementation ,business.industry ,Thalassemia ,Immunology ,Osteoporosis ,Urine Calcium Measurement ,chemistry.chemical_element ,Cell Biology ,Hematology ,General Medicine ,Calcium ,Placebo ,medicine.disease ,Biochemistry ,Gastroenterology ,Excretion ,Endocrinology ,chemistry ,Internal medicine ,Vitamin D and neurology ,medicine ,Hypercalciuria ,business - Abstract
Abstract 1029 Purpose of study: Transfusion dependent thalassemia (TM) patients are routinely supplemented with vitamin D due to their increased risk of developing osteoporosis. Recent studies from North America have found that these patients have high rates of vitamin D “deficiency” and “insufficiency,” despite supplementation. The amount of vitamin D supplementation required to raise serum 25 hydroxy-vitamin D (25-OHD) to optimal levels is not known in these patients. Recent studies have linked 25-OHD levels to hypercalciuria and nephrolithiasis in patients with TM. The purpose of this study is to determine the effect of various doses of vitamin D supplementation on vitamin D stores and calcium excretion in TM patients. Description of project: Prospective, single-blind, placebo-controlled study of TM patients followed in the transfusion center at Weill Cornell/New York Presbyterian Hospital. Patients with 25-OHD concentrations between 15–29 ng/mL were eligible for this 3-month study. Subjects were assigned in a block type of enrollment to the “high dose” equivalent of 2,000 IU of vitamin D per day versus placebo. Results: 14 subjects were enrolled, with 8 assigned to the “high dose” group and 6 assigned to the placebo group. The “high dose” group consisted of 6 females, aged 15.2–45.5 years with an average baseline 25-OHD level of 22.4 ng/mL (15–26). The “placebo” group consisted of 4 females, aged 22.5–45.7 years with an average baseline 25-OHD level of 19.8 ng/mL (16–24). After the 3 month study period, hypercalciuria developed more frequently in those treated in the “high dose” group. In the placebo group, hypercalciuria was noted in 1/6 (16.7%) spot urine calcium/creatinine tests and 0/3 (0%) 24 hour urine calcium estimations. In the “high dose” group, the corresponding number of patients based on the same methods of testing were 5/8 (62.5%) and 2/5 (40%). No episodes of hypocalcemia, hypercalcemia or nephrolithiasis occurred in either group. Conclusion: Our findings suggest that “high dose” vitamin D supplementation results in higher rates of hypercalciuria in TM patients. Further studies are necessary to determine the optimal dose of vitamin D supplementation to minimize the risk of osteoporosis while preventing nephrolithiasis in TM patients. Disclosures: No relevant conflicts of interest to declare. more...
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- 2013
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48. EPO signaling and hematopoietic expansion as causes of osteoporosis in a thalassemia mouse model
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Rea Oikonomidou, Zhiwei Yang, F Paddy Ross, Maria G. Vogiatzi, Stefano Rivella, and Adele L. Boskey
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A-Thalassemia ,Haematopoiesis ,business.industry ,Osteoporosis ,Immunology ,Medicine ,General Medicine ,business ,medicine.disease - Published
- 2013
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49. The impact of selective serotonin reuptake inhibitors on bone mineral density in the pediatric and young adult population
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Alexis J. Feuer and Maria G. Vogiatzi
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Bone mineral ,medicine.medical_specialty ,education.field_of_study ,Endocrinology ,business.industry ,Internal medicine ,Population ,Medicine ,General Medicine ,Young adult ,Serotonin reuptake ,business ,education - Published
- 2013
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50. Dehydroepiandrosterone in morbidly obese adolescents: Effects on weight, body composition, lipids, and insulin resistance
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Maria G. Vogiatzi, Marjorie A. Boeck, Ragab El-Rashid, Elpis Vlachopapadopoulou, and Maria I. New
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Adult ,Male ,medicine.medical_specialty ,Adolescent ,Endocrinology, Diabetes and Metabolism ,Blood lipids ,Dehydroepiandrosterone ,Placebo ,Endocrinology ,Insulin resistance ,Double-Blind Method ,Internal medicine ,Diabetes mellitus ,polycyclic compounds ,Humans ,Medicine ,business.industry ,Body Weight ,medicine.disease ,Lipids ,Obesity ,Obesity, Morbid ,Basal metabolic rate ,Androgens ,Female ,Insulin Resistance ,business ,Body mass index ,hormones, hormone substitutes, and hormone antagonists - Abstract
The hormone dehydroepiandrosterone (DHEA) has been reported to have beneficial effects on obesity, diabetes mellitus, and serum lipids in animal studies, but results in human studies are less clear. We conducted a randomized double-blind placebo-controlled trial to determine the effects of DHEA treatment on obesity and related physiologic conditions in adolescents and young adults. In this 10-week study, 13 morbidly obese subjects received a placebo for 2 weeks. After this run-in period, patients were randomized, with seven subjects (mean age, 15.5 years; body mass index [BMI, derived by dividing body weight in kilograms by height in meters squared], 48.2 +/- 9.7 [mean +/- SD]) receiving DHEA 40 mg sublingually twice daily for 8 weeks and six subjects (mean age, 18.0 years; BMI, 52.9 +/- 14) receiving placebo. Variables measured included body weight, body composition, resting metabolic rate (RMR), serum lipid levels, insulin sensitivity, and serum steroid levels. Treatment with DHEA resulted in a statistically significant increase in plasma DHEA and DHEA sulfate (DHEAS) concentrations (P < .01). Testosterone (T) levels were significantly increased in females who received DHEA. DHEA administration had no effect on body weight, sense of well-being, or any other measured variables. These findings suggest that DHEA 40 mg administered sublingually twice daily for 8 weeks has no positive effect on body weight, body composition, serum lipids, or insulin sensitivity in extremely obese adolescents and young adults. more...
- Published
- 1996
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