25 results on '"Nokoff N"'
Search Results
2. Phase 3 Trial of Crinecerfont in Pediatric Congenital Adrenal Hyperplasia.
- Author
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Sarafoglou, K., Kim, M. S., Lodish, M., Felner, E. I., Martinerie, L., Nokoff, N. J., Clemente, M., Fechner, P. Y., Vogiatzi, M. G., Speiser, P. W., Auchus, R. J., Rosales, G. B. G., Roberts, E., Jeha, G. S., Farber, R. H., and Chan, J. L.
- Subjects
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ADRENOGENITAL syndrome , *CLINICAL trials , *BODY surface area , *CORTICOTROPIN releasing hormone , *ANDROSTENEDIONE , *FEVER - Abstract
Background: Children with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency require treatment with glucocorticoids, usually at supraphysiologic doses, to address cortisol insufficiency and reduce excess adrenal androgens. However, such treatment confers a predisposition to glucocorticoid-related complications. In 2-week phase 2 trials, patients with CAH who received crinecerfont, a new oral corticotropin-releasing factor type 1 receptor antagonist, had decreases in androstenedione levels. Methods: In this phase 3, multinational, randomized trial, we assigned pediatric participants with CAH, in a 2:1 ratio, to receive crinecerfont or placebo for 28 weeks. A stable glucocorticoid dose was maintained for 4 weeks, and the dose was then adjusted to a target of 8.0 to 10.0 mg per square meter of body-surface area per day (hydrocortisone dose equivalents), provided that the androstenedione level was controlled (≤120% of the baseline level or within the reference range). The primary efficacy end point was the change in the androstenedione level from baseline to week 4. A key secondary end point was the percent change in the glucocorticoid dose from baseline to week 28 while androstenedione control was maintained. Results: A total of 103 participants underwent randomization, of whom 69 were assigned to crinecerfont and 34 to placebo; 100 (97%) remained in the trial at 28 weeks. At baseline, the mean glucocorticoid dose was 16.4 mg per square meter per day, and the mean androstenedione level was 431 ng per deciliter (15.0 nmol/liter). At week 4, androstenedione was substantially reduced in the crinecerfont group (-197 ng per deciliter [-6.9 nmol/liter]) but increased in the placebo group (71 ng per deciliter [2.5 nmol/liter]) (least-squares mean difference [LSMD], -268 ng per deciliter [-9.3 nmol/liter]; P<0.001); the observed mean androstenedione value, obtained before the morning glucocorticoid dose, was 208 ng per deciliter (7.3 nmol/liter) in the crinecerfont group, as compared with 545 ng per deciliter (19.0 nmol/liter) in the placebo group. At week 28, the mean glucocorticoid dose had decreased (while androstenedione control was maintained) by 18.0% with crinecerfont but increased by 5.6% with placebo (LSMD, -23.5 percentage points; P<0.001). Headache, pyrexia, and vomiting were the most common adverse events. Conclusions: In this phase 3 trial, crinecerfont was superior to placebo in reducing elevated androstenedione levels in pediatric participants with CAH and was also associated with a decrease in the glucocorticoid dose from supraphysiologic to physiologic levels while androstenedione control was maintained. (Funded by Neurocrine Biosciences; CAHtalyst Pediatric ClinicalTrials.gov number, NCT04806451.). [ABSTRACT FROM AUTHOR]
- Published
- 2024
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3. Erratum to "An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)." Kidney International 2023;105:1058-1076.
- Author
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Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, and Bergwitz C
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- 2024
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4. An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
- Author
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Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, and Bergwitz C
- Subjects
- Humans, Hypercalciuria diagnosis, Hypercalciuria drug therapy, Hypercalciuria genetics, Kidney metabolism, Phosphates, Sodium-Phosphate Cotransporter Proteins, Type IIc genetics, Sodium-Phosphate Cotransporter Proteins, Type IIc metabolism, Familial Hypophosphatemic Rickets complications, Familial Hypophosphatemic Rickets diagnosis, Familial Hypophosphatemic Rickets drug therapy, Hypophosphatemia
- Abstract
Pathogenic variants in solute carrier family 34, member 3 (SLC34A3), the gene encoding the sodium-dependent phosphate cotransporter 2c (NPT2c), cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Here, we report a pooled analysis of clinical and laboratory records of 304 individuals from 145 kindreds, including 20 previously unreported HHRH kindreds, in which two novel SLC34A3 pathogenic variants were identified. Compound heterozygous/homozygous carriers show above 90% penetrance for kidney and bone phenotypes. The biochemical phenotype for heterozygous carriers is intermediate with decreased serum phosphate, tubular reabsorption of phosphate (TRP (%)), fibroblast growth factor 23, and intact parathyroid hormone, but increased serum 1,25-dihydroxy vitamin D, and urine calcium excretion causing idiopathic hypercalciuria in 38%, with bone phenotypes still observed in 23% of patients. Oral phosphate supplementation is the current standard of care, which typically normalizes serum phosphate. However, although in more than half of individuals this therapy achieves correction of hypophosphatemia it fails to resolve the other outcomes. The American College of Medical Genetics and Genomics score correlated with functional analysis of frequent SLC34A3 pathogenic variants in vitro and baseline disease severity. The number of mutant alleles and baseline TRP (%) were identified as predictors for kidney and bone phenotypes, baseline TRP (%) furthermore predicted response to therapy. Certain SLC34A3/NPT2c pathogenic variants can be identified with partial responses to therapy, whereas with some overlap, others present only with kidney phenotypes and a third group present only with bone phenotypes. Thus, our report highlights important novel clinical aspects of HHRH and heterozygous carriers, raises awareness to this rare group of disorders and can be a foundation for future studies urgently needed to guide therapy of HHRH., (Copyright © 2024 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.)
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- 2024
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5. The Biological Basis of Sex Differences in Athletic Performance: Consensus Statement for the American College of Sports Medicine.
- Author
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Hunter SK, S Angadi S, Bhargava A, Harper J, Hirschberg AL, D Levine B, L Moreau K, J Nokoff N, Stachenfeld NS, and Bermon S
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- Adult, Humans, Female, Male, United States, Sex Characteristics, Testosterone, Testosterone Congeners, Gonadal Steroid Hormones, Athletic Performance physiology, Sports Medicine
- Abstract
Abstract: Biological sex is a primary determinant of athletic performance because of fundamental sex differences in anatomy and physiology dictated by sex chromosomes and sex hormones. Adult men are typically stronger, more powerful, and faster than women of similar age and training status. Thus, for athletic events and sports relying on endurance, muscle strength, speed, and power, males typically outperform females by 10%-30% depending on the requirements of the event. These sex differences in performance emerge with the onset of puberty and coincide with the increase in endogenous sex steroid hormones, in particular testosterone in males, which increases 30-fold by adulthood, but remains low in females. The primary goal of this consensus statement is to provide the latest scientific knowledge and mechanisms for the sex differences in athletic performance. This review highlights the differences in anatomy and physiology between males and females that are primary determinants of the sex differences in athletic performance and in response to exercise training, and the role of sex steroid hormones (particularly testosterone and estradiol). We also identify historical and nonphysiological factors that influence the sex differences in performance. Finally, we identify gaps in the knowledge of sex differences in athletic performance and the underlying mechanisms, providing substantial opportunities for high-impact studies. A major step toward closing the knowledge gap is to include more and equitable numbers of women to that of men in mechanistic studies that determine any of the sex differences in response to an acute bout of exercise, exercise training, and athletic performance., (Copyright © 2023 by the American College of Sports Medicine.)
- Published
- 2023
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6. Menstrual Suppression in Adolescent and Young Adult Transgender Males.
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Alaniz VI, Sheeder JL, Whitmore GT, Wilde MD, Hutchens KJ, Nokoff NJ, Reirden DH, and Huguelet PS
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- Child, Female, Humans, Adolescent, Male, Young Adult, Retrospective Studies, Menstrual Cycle, Testosterone therapeutic use, Leuprolide therapeutic use, Transgender Persons
- Abstract
Objective: To describe time to cessation of menses in adolescent and young adult transgender males with testosterone and/or other hormonal therapies DESIGN: Retrospective chart review SETTING: Tertiary children's hospital PARTICIPANTS: Patients, aged 10-24, who began gender-affirming hormonal therapy between January 2013 and January 2019 (n = 220) INTERVENTION(S): None MAIN OUTCOME MEASURE(S): Time to cessation of menses RESULTS: Most patients identified as transgender male or transmasculine (211/220, 95.9%), with an average age of 15.8 (±1.9) years. Approximately 53.6% (118/220) of patients reported regular menstrual cycles; 18.2% (40/220) reported irregular cycles. Median time to cessation of menses for all patients was 182 days. Patients treated with testosterone alone (n = 105) reported a median time to cessation of menses of 151 days. Patients who concurrently began testosterone and norethindrone acetate (NETA) (n = 5) had a median time to cessation of menses of 188 days, compared with 168 days for those on testosterone and depot medroxyprogesterone acetate (DMPA, n = 15). In 15 patients who began testosterone, a progestin therapy was later added to induce menstrual suppression, and the median time to cessation of menses was 168 days (+DMPA, n = 4) or 56 days (+NETA, n = 11). Patients treated with NETA (n = 14) or depot leuprolide (n = 11) reported a median time to cessation of menses of 78 days or 77 days, respectively. Considerable variability in prescribing patterns was noted in the remaining 36.4% of patients (n = 80)., Conclusion: Patients used a variety of different hormonal regimens for menstrual suppression. Less than half achieved cessation of menses within 6 months. NETA and depot leuprolide users reported the most rapid cessation of menses., (Copyright © 2022. Published by Elsevier Inc.)
- Published
- 2023
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7. Multicenter Analysis of Cardiometabolic-related Diagnoses in Transgender and Gender-Diverse Youth: A PEDSnet Study.
- Author
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Valentine A, Davis S, Furniss A, Dowshen N, Kazak AE, Lewis C, Loeb DF, Nahata L, Pyle L, Schilling LM, Sequeira GM, and Nokoff N
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- Adolescent, Cross-Sectional Studies, Estradiol, Gonadotropin-Releasing Hormone, Humans, Obesity, Overweight, Testosterone therapeutic use, Testosterone Congeners, Hypertension, Transgender Persons
- Abstract
Context: Studies on cardiometabolic health in transgender and gender-diverse youth (TGDY) are limited to small cohorts., Objective: This work aimed to determine the odds of cardiometabolic-related diagnoses in TGDY compared to matched controls in a cross-sectional analysis, using a large, multisite database (PEDSnet)., Methods: Electronic health record data (2009-2019) were used to determine odds of cardiometabolic-related outcomes based on diagnosis, anthropometric, and laboratory data using logistic regression among TGDY youth vs controls. The association of gender-affirming hormone therapy (GAHT) with these outcomes was examined separately among TGDY. TGDY (n = 4172) were extracted from 6 PEDSnet sites and propensity-score matched on 8 variables to controls (n = 16 648). Main outcomes measures included odds of having cardiometabolic-related diagnoses among TGDY compared to matched controls, and among TGDY prescribed GAHT compared to those not prescribed GAHT., Results: In adjusted analyses, TGDY had higher odds of overweight/obesity (1.2; 95% CI, 1.1-1.3) than controls. TGDY with a testosterone prescription alone or in combination with a gonadotropin-releasing hormone agonist (GnRHa) had higher odds of dyslipidemia (1.7; 95% CI, 1.3-2.3 and 3.7; 95% CI, 2.1-6.7, respectively) and liver dysfunction (1.5; 95% CI, 1.1-1.9 and 2.5; 95% CI, 1.4-4.3) than TGDY not prescribed GAHT. TGDY with a testosterone prescription alone had higher odds of overweight/obesity (1.8; 95% CI, 1.5-2.1) and hypertension (1.6 95% CI, 1.2-2.2) than those not prescribed testosterone. Estradiol and GnRHa alone were not associated with greater odds of cardiometabolic-related diagnoses., Conclusion: TGDY have increased odds of overweight/obesity compared to matched controls. Screening and tailored weight management, sensitive to the needs of TGDY, are needed., (© The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
- Published
- 2022
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8. Cardiometabolic Parameters Among Transgender Adolescent Males on Testosterone Therapy and Body Mass Index-Matched Cisgender Females.
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Valentine A, Nokoff N, Bonny A, Chelvakumar G, Indyk J, Leibowitz S, and Nahata L
- Abstract
Limited data are available on changes in metabolic parameters in transgender youth on testosterone therapy in comparison with cisgender females. Data from 42 transgender males on testosterone therapy were retrospectively analyzed. Body mass index (BMI) and lipid profile changes were compared with BMI-matched females. There was a significant increase in BMI over time in the transgender males as compared with the cisgender females, and a decrease in high-density lipoprotein in the transgender males after starting testosterone therapy. Longitudinal prospective studies with cisgender controls are needed to better define effects of testosterone therapy in adolescents., Competing Interests: A.V., A.B., G.C., J.I., S.L., L.N.: No competing financial interests exist. N.N.: Previously consulted for Antares Pharma, Inc., (Copyright 2021, Mary Ann Liebert, Inc., publishers.)
- Published
- 2021
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9. Care for Adolescents With Polycystic Ovary Syndrome: Development and Prescribing Patterns of a Multidisciplinary Clinic.
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Torres-Zegarra C, Sundararajan D, Benson J, Seagle H, Witten M, Walders-Abramson N, Simon SL, Huguelet P, Nokoff NJ, and Cree-Green M
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- Adolescent, Adult, Alopecia, Child, Female, Hirsutism, Humans, Retrospective Studies, Young Adult, Metformin, Polycystic Ovary Syndrome complications
- Abstract
Study Objective: Based on updated guidelines and expressed patient needs, we created a multidisciplinary clinic including endocrinology, gynecology/adolescent medicine, dermatology, psychology, and nutrition to provide comprehensive care to adolescent girls with polycystic ovary syndrome (PCOS). We describe the patient population presenting to this clinic, and prescribing patterns when a multidisciplinary approach is used., Design: Retrospective chart review., Setting: Tertiary care hospital., Participants: Female patients, aged 11-24 years, presenting for initial assessment in a multidisciplinary PCOS clinic., Interventions: None., Main Outcome Measures: Medical history, physical examination findings, laboratory measurements and prescribed therapies., Results: A total of 92 patients seen from 2014 to 2018 are described (age 15.9 years, range 11-24 years, body mass index 35.6 kg/m
2 , range 19.9-53.5). Metabolic syndrome features were common: 26% had a prediabetes hemoglobin A1c (>5.6%), 83% had a high-density lipoprotein (HDL) <50 mg/dL, 40% had a systolic blood pressure >120 mm Hg, and 43% had an alanine aminotransferase level of >30 U/L. Dermatologic findings included acne 93%, hirsutism 38%, acanthosis nigricans 85%, hidradenitis suppurativa 16%, and androgenic alopecia 2%. Of the patients, 33% had a diagnosis of depression or anxiety, 16% of patients had a diagnosis of obstructive sleep apnea, and an additional 59% had symptoms warranting a sleep study The most commonly prescribed medications were topical acne preparations (62%), followed by estrogen-containing hormonal therapy (56%) and metformin (40%)., Conclusion: In adolescents with PCOS and obesity, metabolic, dermatologic, and psychologic co-morbidities are common. The use of a multidisciplinary clinic model including dermatology in addition to endocrinology, gynecology, psychology, and lifestyle experts provides care for most aspects of PCOS., (Copyright © 2021 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)- Published
- 2021
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10. Short sleep, insomnia symptoms, and evening chronotype are correlated with poorer mood and quality of life in adolescent transgender males.
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Bowen AE, Staggs S, Kaar J, Nokoff N, and Simon SL
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- Adolescent, Humans, Male, Quality of Life, Sleep, Sleep Initiation and Maintenance Disorders epidemiology, Sleep Wake Disorders, Transgender Persons
- Abstract
Objective: Poor sleep is common among adolescents and associated with impaired mood and health-related quality of life (HRQOL). Transgender individuals are at increased risk of mood problems hypothesized to be due to minority stress; however, no research has investigated associations between sleep and mood in this population. We aimed to examine sleep, mood, and HRQOL in transgender adolescent males., Design & Setting: Transgender males age 13-16 were recruited from a U.S. gender diversity clinic., Measurements: Participants completed one week of home actigraphy monitoring. Questionnaires assessed insomnia symptoms, chronotype, mood, and HRQOL. Pearson correlations between sleep, mood, and HRQOL were examined., Results: A total of 10 participants completed study measures during the school year. Participants obtained less than the recommended 8-10 hours of sleep per night, and half of participants endorsed insomnia symptoms. Greater insomnia symptoms were correlated with higher anxiety (P = .04) and depression (P = .04) symptoms, and poorer Psychosocial HRQOL (P = .03). Earlier weekday and weekend bed and wake times and earlier weekday sleep midpoint were associated with better Wellbeing HRQOL. No other significant correlations between sleep and mood or HRQOL variables were found., Conclusions: Anxiety and depression symptoms were associated with self-reported insomnia symptoms, while HRQOL was associated with both insomnia symptoms and objective sleep timing in this sample of adolescent transgender males. Clinicians should assess both sleep and mood symptoms in this population and future research should evaluate the impact of improved sleep and gender-affirming care on mood and HRQOL for transgender adolescents., (Copyright © 2021 National Sleep Foundation. Published by Elsevier Inc. All rights reserved.)
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- 2021
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11. Kidney hemodynamic function in men and postmenopausal women with type 2 diabetes and preserved kidney function.
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van Velzen DM, Smits MM, van Bommel EJM, Muskiet MHA, Tonneijck L, Kramer MHH, Joles JA, den Heijer M, Nokoff N, Bjornstad P, and van Raalte DH
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- Aged, Biomarkers, Female, Humans, Male, Middle Aged, Diabetes Mellitus, Type 2, Hemodynamics, Kidney physiology, Postmenopause
- Abstract
The progression of kidney disease may differ between sexes in type 2 diabetes (T2D), with previous studies reporting a slower decline in women. Glomerular hyperfiltration is a key factor driving the kidney function decline. The current study aimed to investigate the differences in kidney hemodynamic function between men and women with T2D. A cross-sectional analysis of pooled data from three studies compared kidney hemodynamic function between men and postmenopausal women with T2D without overt nephropathy. The outcome measures were glomerular filtration rate (GFR; inulin clearance), effective renal plasma flow (ERPF; p -aminohippurate clearance), filtration fraction (GFR/ERPF), and renal vascular resistance (RVR; mean arterial pressure/renal blood flow). Glomerular hydraulic pressure (P
GLO ) as well as afferent and efferent vascular resistance were estimated by Gomez formulae. Sex differences were assessed with linear regression models adjusted for systolic blood pressure, glucose, use of renin-angiotensin system blockers, and body mass index. In total, 101 men [age: 63 (58-68) yr, body mass index: 31.5 ± 3.9 kg/m2 , GFR: 111 ± 18 mL/min, HbA1c : 7.4 ± 0.7%] and 27 women [age: 66 (62-69) yr, body mass index: 30.9 ± 4.5 kg/m2 , GFR: 97 ± 11 mL/min, HbA1c : 7.1 ± 0.5%] were included. GFR was higher in men versus women [11.0 mL/min (95% confidence interval: 3.6, 18.4)]. Although statistically nonsignificant, PGLO trended higher in men [1.9 mmHg (95% confidence interval: -0.1, 4.0)], whereas RVR [-0.012 mmHg/L/min (95% confidence interval: -0.022, -0.002)] and afferent vascular resistance were lower [-361 dyn/s/cm5 (95% confidence interval: -801, 78)]. In conclusion, in adults without overt nephropathy, GFR was higher in men compared with women. PGLO also trended to be higher in men. Both findings are possibly related to afferent vasodilation and suggest greater prevalence of hyperfiltration. This could contribute to accelerated GFR loss over time in men with T2D. NEW & NOTEWORTHY In adults with type 2 diabetes, men had higher markers of hyperfiltration, which could potentially explain the accelerated progression of diabetic kidney disease in men compared with women.- Published
- 2021
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12. Sex-related differences in diabetic kidney disease: A review on the mechanisms and potential therapeutic implications.
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Piani F, Melena I, Tommerdahl KL, Nokoff N, Nelson RG, Pavkov ME, van Raalte DH, Cherney DZ, Johnson RJ, Nadeau KJ, and Bjornstad P
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- Female, Humans, Male, Precision Medicine, Sex Characteristics, Diabetic Nephropathies diagnosis, Diabetic Nephropathies epidemiology, Diabetic Nephropathies therapy
- Abstract
Sexual dimorphism may play a key role in the pathogenesis of diabetic kidney disease (DKD) and explain differences observed in disease phenotypes, responses to interventions, and disease progression between men and women with diabetes. Therefore, omitting the consideration of sex as a biological factor may result in delayed diagnoses and suboptimal therapies. This review will summarize the effects of sexual dimorphism on putative metabolic and molecular mechanisms underlying DKD, and the potential implications of these differences on therapeutic interventions. To successfully implement precision medicine, we require a better understanding of sexual dimorphism in the pathophysiologic progression of DKD. Such insights can unveil sex-specific therapeutic targets that have the potential to maximize efficacy while minimizing adverse events., Competing Interests: Declaration of competing interest PB has acted as a consultant for Bayer, Bristol-Myers Squibb, Boehringer Ingelheim, Sanofi, Novo Nordisk, AstraZeneca, Lilly USA and Horizon Pharma. PB serves on the advisory board of XORTX and Boehringer Ingelheim. All support was outside the submitted work. NN has previously consulted for Antares Pharma, Inc. D.Z.I.C. has received honoraria from Boehringer Ingelheim-Lilly, Merck, AstraZeneca, Sanofi, Mitsubishi-Tanabe, Abbvie, Janssen, Bayer, Prometic, BMS and Novo-Nordisk and has received operational funding for clinical trials from Boehringer Ingelheim-Lilly, Merck, Janssen, Sanofi, AstraZeneca and Novo-Nordisk. RJ has consulted with Horizon, AstraZeneca, and has equity with XORTX Therapeutics and Colorado Research Partners LLC. DvR has acted as a consultant and received honoraria from Boehringer Ingelheim and Lilly, Merck, Novo Nordisk, MSD, Sanofi and AstraZeneca and has received research operating funds from Boehringer Ingelheim-Lilly Diabetes Alliance, AstraZeneca and MDS. All honoraria are paid to his employer (Amsterdam University Medical Center). FP, IM, KLT, RN, MP, and KJN have nothing to disclose. All authors approved of the final manuscript., (Copyright © 2020 Elsevier Inc. All rights reserved.)
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- 2021
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13. Early Intervention for LGBTQ Health: A 10-Hour Curriculum for Preclinical Health Professions Students.
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Minturn MS, Martinez EI, Le T, Nokoff N, Fitch L, Little CE, and Lee RS
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- Canada, Curriculum, Female, Health Occupations, Humans, Sexual and Gender Minorities, Students, Medical
- Abstract
Introduction: Individuals who identify as lesbian, gay, bisexual, transgender, or queer (LGBTQ) face significant health disparities and barriers to accessing care. Patients have reported provider lack of knowledge as one of the key barriers to culturally responsive, clinically competent care. Many US and Canadian medical schools still offer few curricular hours dedicated to LGBTQ-related topics, and medical students continue to feel unprepared to care for LGBTQ patients., Methods: We developed a 10-hour LGBTQ health curriculum for preclinical medical and physician assistant students. The curriculum included lectures and case-based small-group discussions covering LGBTQ terminology, inclusive sexual history taking, primary care and health maintenance, and transition-related care. It also included a panel discussion with LGBTQ community members and a small-group practice session with standardized patients. Students were surveyed before and after completing the curriculum to assess for increases in confidence and knowledge related to LGBTQ-specific care., Results: Forty first- and second-year medical students completed the sessions and provided valid responses on pre- and postcourse surveys. Nearly all students initially felt unprepared to sensitively elicit information, summarize special health needs and primary care recommendations, and identify community resources for LGBTQ individuals. There was significant improvement in students' confidence in meeting these objectives after completion of the five sessions. Knowledge of LGBTQ health issues increased minimally, but there was a significant increase in knowledge of LGBTQ-related terminology., Discussion: Our 10-hour LGBTQ health curriculum was effective at improving medical students' self-confidence in working with LGBTQ patients but was less effective at increasing LGBTQ-related medical knowledge., (© 2021 Minturn et al.)
- Published
- 2021
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14. Parent experience with volunteers and support groups in a multidisciplinary DSD clinic.
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Nokoff N, Ariefdjohan M, Travers S, and Buchanan C
- Abstract
Objective: Despite recommendations that clinics for children with a difference of sex development (DSD) should include peer support, information on how to provide this support is lacking. We utilized a mixed-methods program evaluation to evaluate family satisfaction with our clinic-based volunteers (who either have DSD themselves or are a parent of a child with DSD) and to understand the experience of these volunteers., Methods: Parents (n=29) of a child with DSD completed an electronic survey. Interviews were conducted with three clinic volunteers., Results: Most participants (72%) met with a clinic volunteer and majority (81%) rated their interaction as helpful. Most common topics discussed between parents and volunteers included: connecting to support groups (81%), their child's future (62%), and learning about their child's diagnosis (48%). Half of parents (48%) attended an after-clinic support group lunch, and 43% of these attendees rated the lunch session as helpful. Parents who attended a lunch liked the experience because they met other families with a child with a similar medical condition (100%), met volunteers with a similar medical condition (64%), and it helped them think more positively about their child's future (64%). Those who did not attend a lunch cited logistical reasons for not attending., Conclusions: Incorporating clinic volunteers into a multidisciplinary DSD clinic is associated with high reported rates of satisfaction by families and volunteers.
- Published
- 2020
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15. Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study.
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Baskin A, Wisniewski AB, Aston CE, Austin P, Chan YM, Cheng EY, Diamond DA, Fried A, Kolon T, Lakshmanan Y, Williot P, Meyer S, Meyer T, Kropp B, Nokoff N, Palmer B, Paradis A, Poppas D, VanderBrink B, Scott Reyes KJ, Tishelman A, Wolfe-Christensen C, Yerkes E, Mullins LL, and Baskin L
- Subjects
- Child, Child, Preschool, Cohort Studies, Female, Genitalia surgery, Humans, Male, Prospective Studies, Urogenital Surgical Procedures adverse effects, Adrenal Hyperplasia, Congenital surgery, Disorders of Sex Development surgery
- Abstract
Disorders/differences of sex development (DSD) are congenital conditions in which there is atypical chromosomal, gonadal and/or phenotypic sex. While there remains controversy around the traditionally binary concept of sex, most patients with DSD are reared either male or female depending on their genetic sex, gonadal sex, genital phenotype and status of their internal genital tract. This study uses prospective data from 12 institutions across the United States that specialize in DSD care. We focused on patients raised female. Eligible patients had moderate to severe genital atypia (defined as Prader score >2), were ≤2 years of age at entry, and had no prior genitoplasty. The aim of this study is to describe early post operative complications for young patients undergoing modern approaches to feminizing genitoplasty. Of the 91 participants in the cohort, 57 (62%) were reared female. The majority had congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (n = 52), 1 had ovo-testicular syndrome, 2 had mixed gonadal dysgenesis and 2 had partial androgen insensitivity syndrome (PAIS). Of the 50 participants who received early genitoplasty, 43 (86%) had follow-up at 6-12 months post-surgery. Thirty-two participants (64%) received a clitoroplasty, 31 (62%) partial urogenital mobilization and 4 (8%) total urogenital sinus mobilization. Eighteen percent (9/50) experienced post-surgical complications with 7 (14%) being rated as Clavien-Dindo grade III. Both parents and surgeons reported improved satisfaction with genital appearance of participants following surgery compared to baseline. This information on post-operative complications associated with contemporary approaches to feminizing genitoplasty performed in young children will help guide families when making decisions about whether or not to proceed with surgery for female patients with moderate to severe genital atypia., (Published by Elsevier Ltd.)
- Published
- 2020
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16. Response to Letter to the Editor: "Body Composition and Markers of Cardiometabolic Health in Transgender Youth Compared to Cisgender Youth".
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Nokoff N
- Subjects
- Adolescent, Biomarkers, Body Composition, Gender Identity, Humans, Cardiovascular Diseases epidemiology, Cardiovascular Diseases etiology, Transgender Persons
- Published
- 2020
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17. Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.
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Davis S, Ware MA, Zeiger J, Deardorff MA, Grand K, Grimberg A, Hsu S, Kelsey M, Majidi S, Matthew RP, Napier M, Nokoff N, Prasad C, Riggs AC, McKinnon ML, and Mirzaa G
- Subjects
- Brain metabolism, Brain pathology, Capillaries pathology, Child, Child, Preschool, Female, Genetic Predisposition to Disease, Growth Hormone genetics, Humans, Hypoglycemia complications, Hypoglycemia pathology, Infant, Infant, Newborn, Male, Mutation genetics, Polymicrogyria genetics, Polymicrogyria pathology, Vascular Malformations complications, Vascular Malformations pathology, Capillaries abnormalities, Class I Phosphatidylinositol 3-Kinases genetics, Growth Hormone deficiency, Hypoglycemia genetics, Vascular Malformations genetics
- Abstract
Megalencephaly-capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical malformations (specifically polymicrogyria), vascular anomalies, and segmental overgrowth secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway (PIK3CA). Cases of growth failure and hypoglycemia have been reported in patients with MCAP, raising the suspicion for unappreciated growth hormone (GH) deficiency. Here we report an observational multicenter study of children with MCAP and GH deficiency. Eleven participants were confirmed to have GH deficiency, all with very low or undetectable circulating concentrations of insulin-like growth factor-1 and insulin-like growth factor binding protein-3. Seven underwent GH stimulation testing and all had insufficient responses with a median GH peak of 3.7 ng/ml (range 1.1-8.6). Growth patterns revealed a drastic decline in length z-scores within the first year of life but then stabilized afterward. Five were treated with GH; one discontinued due to inconsolability. The other four participants continued on GH with improvement in linear growth velocity. Other endocrinopathies were identified in 7 of the 11 participants in this cohort. This study indicates that GH deficiency is associated with MCAP and that children with MCAP and hypoglycemia and/or postnatal growth failure should be evaluated for GH deficiency and other endocrinopathies., (© 2019 Wiley Periodicals, Inc.)
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- 2020
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18. Predictors of Psychosocial Distress in Parents of Young Children with Disorders of Sex Development.
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Perez MN, Delozier AM, Aston CE, Austin P, Baskin L, Chan YM, Cheng EY, Diamond DA, Fried A, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Nokoff N, Palmer B, Paradis A, Poppas D, Scott Reyes KJ, Swartz JM, Tishelman A, Wisniewski AB, Wolfe-Christensen C, Yerkes E, and Mullins LL
- Subjects
- Adult, Child, Preschool, Disorders of Sex Development complications, Female, Humans, Incidence, Infant, Male, Prognosis, Risk Factors, Stress, Psychological epidemiology, Stress, Psychological psychology, United States epidemiology, Disorders of Sex Development psychology, Parents psychology, Quality of Life, Stress, Psychological etiology
- Abstract
Purpose: We evaluated demographic, financial and support predictors of distress for parents of young children with disorders of sex development including atypical genital development, and characterized early parental experiences. This work extends our previous findings to identify those parents at risk for distress., Materials and Methods: Participants included mothers (76) and fathers (63) of a child (78) diagnosed with disorders of sex development characterized by moderate to severe genital atypia. Parents completed a demographic questionnaire, measures of anxious and depressive symptoms, quality of life, illness uncertainty and posttraumatic stress symptoms, and rated their satisfaction with the appearance of their child's genitalia., Results: Depressive and posttraumatic stress symptoms of caregivers were comparable to standardized norms while levels of anxious symptoms were below norms. A subset of parents reported clinically elevated symptoms. Overall 26% of parents reported anxious symptoms, 24% reported depressive symptoms and 17% reported posttraumatic stress symptoms. Levels of illness uncertainty were lower than those of parents of children with other chronic illnesses. Differences by parent sex emerged, with mothers reporting greater distress. Lower income, increased medical care and travel expenses, and having no other children were related to increased psychosocial distress., Conclusions: Early psychosocial screening is recommended for parents of children with disorders of sex development. Clinicians should be aware that financial burden and lack of previous parenting experience are risk factors for distress.
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- 2019
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19. Sex Differences in Effects of Obesity on Reproductive Hormones and Glucose Metabolism in Early Puberty.
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Nokoff N, Thurston J, Hilkin A, Pyle L, Zeitler PS, Nadeau KJ, Santoro N, and Kelsey MM
- Subjects
- Academic Medical Centers, Adolescent, Age Factors, Analysis of Variance, Blood Glucose analysis, Child, Colorado, Cross-Sectional Studies, Estradiol urine, Female, Hospitals, Pediatric, Humans, Linear Models, Male, Obesity diagnosis, Obesity epidemiology, Reproductive Health, Sex Characteristics, Sex Factors, Sex Hormone-Binding Globulin metabolism, Sexual Maturation physiology, Testosterone urine, Gonadal Steroid Hormones blood, Insulin metabolism, Insulin Resistance, Obesity blood, Puberty physiology
- Abstract
Context: Obesity is known to impact reproductive function in adults, but little is known about its effects on reproductive hormones during puberty., Objective: To assess sex differences in effects of obesity on reproductive hormones and their relation to insulin sensitivity and secretion., Design: Cross-sectional study including anthropometrics, serum and urine reproductive hormone concentrations, and intravenous glucose tolerance testing (IVGTT) to assess acute insulin response to glucose (AIRg), and insulin sensitivity (Si)., Setting: Outpatient academic clinical research center., Patients: Girls (52%) and boys (48%) who were normal weight (NW; n = 51, BMI-Z score = -0.11 ± 0.77, age = 11.5 ± 1.7 years) and obese (n = 53, BMI-Z score = 2.22 ± 0.33, age = 10.9 ± 1.5 years), Tanner stage 2 to 3., Results: Boys with obesity had lower total testosterone (P < 0.0001) and higher concentrations of the urinary estradiol metabolite, E1c, (P = 0.046) than boys with NW. Girls with obesity had higher free androgen index (FAI; P = 0.03) than NW girls. Both boys and girls with obesity had lower sex hormone-binding globulin (SHBG; P < 0.0001) than NW. AIRg was inversely related to SHBG in boys (R = 0.6, P < 0.0001) and girls (R = 0.53, P = 0.0001). Si correlated with higher SHBG in boys (R2 = 0.67, P < 0.0001) and girls (R = 0.5, P = 0.0003), higher total testosterone for boys (R = 0.39, P = 0.01), and lower FAI for girls (R = -0.2, P = 0.04)., Conclusion: Youth with obesity have lower SHBG than youth with NW, but obesity has differential effects on reproductive hormones in girls versus boys, which are apparent early in puberty. Ongoing longitudinal studies will evaluate the impact of obesity on reproductive hormones in girls and boys as puberty progresses., (Copyright © 2019 Endocrine Society.)
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- 2019
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20. Baseline Characteristics of Infants With Atypical Genital Development: Phenotypes, Diagnoses, and Sex of Rearing.
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Finlayson C, Rosoklija I, Aston CE, Austin P, Bakula D, Baskin L, Chan YM, Delozier AM, Diamond DA, Fried A, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Nokoff N, Mullins LL, Palmer B, Perez MN, Poppas DP, Reddy P, Reyes KJS, Schulte M, Sharkey CM, Yerkes E, Wolfe-Christensen C, Wisniewski AB, and Cheng EY
- Abstract
Purpose: Little is known about the phenotypes, diagnoses, and sex of rearing of infants with atypical genital development in the United States. As part of a multicenter study of these infants, we have provided a baseline report from US difference/disorder of sex development clinics describing the diagnoses, anatomic features, and sex of rearing. We also determined whether consensus guidelines are followed for sex designation in the United States., Methods: Eligible participants had moderate-to-severe genital atypia, were aged <3 years, and had not undergone previous genitoplasty. Karyotype, genetic diagnosis, difference/disorder of sex development etiology, family history, and sex of rearing were collected. Standardized examinations were performed., Results: Of 92 subjects, the karyotypes were 46,XX for 57%, 46,XY for 34%, and sex chromosome abnormality for 9%. The median age at the baseline evaluation was 8.8 months. Most 46,XX subjects (91%) had congenital adrenal hyperplasia (CAH) and most 46,XY subjects (65%) did not have a known diagnosis. Two individuals with CAH underwent a change in sex of rearing from male to female within 2 weeks of birth. The presence of a uterus and shorter phallic length were associated with female sex of rearing. The most common karyotype and diagnosis was 46,XX with CAH, followed by 46,XY with an unknown diagnosis. Phenotypically, atypical genitalia have been most commonly characterized by abnormal labioscrotal tissue, phallic length, and urethral meatus location., Conclusions: An increased phallic length was positively associated with rearing male. Among the US centers studied, sex designation followed the Consensus Statement recommendations. Further study is needed to determine whether this results in patient satisfaction.
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- 2018
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21. Preliminary report: Surgical outcomes following genitoplasty in children with moderate to severe genital atypia.
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Bernabé KJ, Nokoff NJ, Galan D, Felsen D, Aston CE, Austin P, Baskin L, Chan YM, Cheng EY, Diamond DA, Ellens R, Fried A, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Delozier AM, Mullins LL, Palmer B, Paradis A, Reddy P, Reyes KJS, Schulte M, Swartz JM, Yerkes E, Wolfe-Christensen C, Wisniewski AB, and Poppas DP
- Subjects
- Adrenal Hyperplasia, Congenital diagnosis, Child, Preschool, Cohort Studies, Disorders of Sex Development diagnosis, Esthetics, Female, Genitalia, Female abnormalities, Genitalia, Female surgery, Genitalia, Male abnormalities, Genitalia, Male surgery, Humans, Infant, Male, Postoperative Complications, Prospective Studies, Quality of Life, Plastic Surgery Procedures methods, Risk Assessment, Surgery, Plastic methods, Treatment Outcome, Urogenital Abnormalities diagnosis, Urogenital Surgical Procedures adverse effects, Urogenital Surgical Procedures methods, Adrenal Hyperplasia, Congenital surgery, Disorders of Sex Development surgery, Urogenital Abnormalities surgery
- Abstract
Introduction: Prior studies of outcomes following genitoplasty have reported high rates of surgical complications among children with atypical genitalia. Few studies have prospectively assessed outcomes after contemporary surgical approaches., Objective: The current study reported the occurrence of early postoperative complications and of cosmetic outcomes (as rated by surgeons and parents) at 12 months following contemporary genitoplasty procedures in children born with atypical genitalia., Study Design: This 11-site, prospective study included children aged ≤2 years, with Prader 3-5 or Quigley 3-6 external genitalia, with no prior genitoplasty and non-urogenital malformations at the time of enrollment. Genital appearance was rated on a 4-point Likert scale. Paired t-tests evaluated differences in cosmesis ratings., Results: Out of 27 children, 10 were 46,XY patients with the following diagnoses: gonadal dysgenesis, PAIS or testosterone biosynthetic defect, severe hypospadias and microphallus, who were reared male. Sixteen 46,XX congenital adrenal hyperplasia patients were reared female and one child with sex chromosome mosaicism was reared male. Eleven children had masculinizing genitoplasty for penoscrotal or perineal hypospadias (one-stage, three; two-stage, eight). Among one-stage surgeries, one child had meatal stenosis (minor) and one developed both urinary retention (minor) and urethrocutaneous fistula (major) (Summary Figure). Among two-stage surgeries, three children developed a major complication: penoscrotal fistula, glans dehiscence or urethral dehiscence. Among 16 children who had feminizing genitoplasty, vaginoplasty was performed in all, clitoroplasty in nine, external genitoplasty in 13, urethroplasty in four, perineoplasty in five, and total urogenital sinus mobilization in two. Two children had minor complications: one had a UTI, and one had both a mucosal skin tag and vaginal mucosal polyp. Two additional children developed a major complication: vaginal stenosis. Cosmesis scores revealed sustained improvements from 6 months post-genitoplasty, as previously reported, with all scores reported as good or satisfied., Discussion: In these preliminary data from a multi-site, observational study, parents and surgeons were equally satisfied with the cosmetic outcomes 12 months after genitoplasty. A small number of patients had major complications in both feminizing and masculinizing surgeries; two-stage hypospadias repair had the most major complications. Long-term follow-up of patients at post-puberty will provide a better assessment of outcomes in this population., Conclusion: In this cohort of children with moderate to severe atypical genitalia, preliminary data on both surgical and cosmetic outcomes were presented. Findings from this study, and from following these children in long-term studies, will help guide practitioners in their discussions with families about surgical management., (Copyright © 2018 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)
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- 2018
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22. Prospective assessment of cosmesis before and after genital surgery.
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Nokoff NJ, Palmer B, Mullins AJ, Aston CE, Austin P, Baskin L, Bernabé K, Chan YM, Cheng EY, Diamond DA, Fried A, Frimberger D, Galan D, Gonzalez L, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Mullins LL, Paradis A, Poppas D, Reddy P, Schulte M, Reyes KJ, Swartz JM, Wolfe-Christensen C, Yerkes E, and Wisniewski AB
- Subjects
- Child, Preschool, Female, Humans, Infant, Male, Prospective Studies, Genital Diseases, Female surgery, Genital Diseases, Male surgery, Genitalia surgery, Plastic Surgery Procedures methods, Urogenital Surgical Procedures
- Abstract
Introduction: Little data exist about the surgical interventions taking place for children with disorders of sex development (DSD). Most studies that have evaluated cosmetic outcomes after genitoplasty have included retrospective ratings by a physician at a single center., Objective: The present study aimed to: 1) describe frequency of sex assignment, and types of surgery performed in a cohort of patients with moderate-to-severe genital ambiguity; and 2) prospectively determine cosmesis ratings by parents and surgeons before and after genital surgery., Study Design: This prospective, observational study included children aged <2 years of age, with no prior genitoplasty at the time of enrollment, moderate-to-severe genital atypia, and being treated at one of 11 children's hospitals in the United States of America (USA). Clinical information was collected, including type of surgery performed. Parents and the local pediatric urologist rated the cosmetic appearance of the child's genitalia prior to and 6 months after genitoplasty., Results: Of the 37 children meeting eligibility criteria, 20 (54%) had a 46,XX karyotype, 15 (40%) had a 46,XY karyotype, and two (5%) had sex chromosome mosaicism. The most common diagnosis overall was congenital adrenal hyperplasia (54%). Thirty-five children had surgery; 21 received feminizing genitoplasty, and 14 had masculinizing genitoplasty. Two families decided against surgery. At baseline, 22 mothers (63%), 14 fathers (48%), and 35 surgeons (100%) stated that they were dissatisfied or very dissatisfied with the appearance of the child's genitalia. Surgeons rated the appearance of the genitalia significantly worse than mothers (P < 0.001) and fathers (P ≤ 0.001) at baseline. At the 6-month postoperative visit, cosmesis ratings improved significantly for all groups (P < 0.001 for all groups). Thirty-two mothers (94%), 26 fathers (92%), and 31 surgeons (88%) reported either a good outcome, or they were satisfied (see Summary Figure); there were no significant between-group differences in ratings., Discussion: This multicenter, observational study showed surgical interventions being performed at DSD centers in the USA. While parent and surgeon ratings were discordant pre-operatively, they were generally concordant postoperatively. Satisfaction with postoperative cosmesis does not necessarily equate with satisfaction with the functional outcome later in life., Conclusion: In this cohort of children with genital atypia, the majority had surgery. Parents and surgeons all rated the appearance of the genitalia unfavorably before surgery, with surgeons giving worse ratings than parents. Cosmesis ratings improved significantly after surgery, with no between-group differences., (Copyright © 2016 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)
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- 2017
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23. Characterizing Early Psychosocial Functioning of Parents of Children with Moderate to Severe Genital Ambiguity due to Disorders of Sex Development.
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Suorsa KI, Mullins AJ, Tackett AP, Reyes KJ, Austin P, Baskin L, Bernabé K, Cheng E, Fried A, Frimberger D, Galan D, Gonzalez L, Greenfield S, Kropp B, Meyer S, Meyer T, Nokoff N, Palmer B, Poppas D, Paradis A, Yerkes E, Wisniewski AB, and Mullins LL
- Subjects
- 46, XX Disorders of Sex Development psychology, Adrenal Hyperplasia, Congenital psychology, Adult, Anxiety Disorders diagnosis, Depressive Disorder diagnosis, Female, Gender Identity, Gonadal Dysgenesis, 46,XY psychology, Humans, Karyotyping, Male, Mass Screening, Stress Disorders, Post-Traumatic diagnosis, Surveys and Questionnaires, Turner Syndrome psychology, Adaptation, Psychological, Anxiety Disorders psychology, Depressive Disorder psychology, Disorders of Sex Development psychology, Parents psychology, Quality of Life psychology, Stress Disorders, Post-Traumatic psychology
- Abstract
Purpose: We examined the psychosocial characteristics of parents of children with disorders of sex development at early presentation to a disorders of sex development clinic. Parental anxiety, depression, quality of life, illness uncertainty and posttraumatic stress symptoms were assessed. Additionally we evaluated the relationship of assigned child gender to parental outcomes., Materials and Methods: A total of 51 parents of children with ambiguous or atypical genitalia were recruited from 7 centers specializing in treatment of disorders of sex development. At initial assessment no child had undergone genitoplasty. Parents completed the Cosmetic Appearance Rating Scale, Beck Anxiety Inventory, Beck Depression Inventory, SF-36, Parent Perception of Uncertainty Scale and Impact of Event Scale-Revised., Results: A large percentage of parents (54.5%) were dissatisfied with the genital appearance of their child, and a small but significant percentage reported symptoms of anxiety, depression, diminished quality of life, uncertainty and posttraumatic stress. Few gender differences emerged., Conclusions: Although many parents function well, a subset experience significant psychological distress around the time of diagnosis of a disorder of sex development in their child. Early screening to assess the need for psychosocial interventions is warranted., (Copyright © 2015 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.)
- Published
- 2015
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24. Presentation to either the pediatric emergency department or primary care clinic for acute illness: the caregivers' perspective.
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Nokoff N, Brunner AM, Linakis JG, and Amanullah S
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- Adult, Child, Child, Preschool, Female, Humans, Male, Surveys and Questionnaires, Acute Disease therapy, Ambulatory Care Facilities, Caregivers, Emergencies, Emergency Service, Hospital, Health Knowledge, Attitudes, Practice, Patient Acceptance of Health Care, Pediatrics, Primary Health Care
- Abstract
Objectives: This study aimed to understand and compare caregivers' perceptions of and attitudes toward care received in a primary care clinic (PCC) versus that received in the pediatric emergency department (PED) as well as the reasons for selecting either location to receive care for their child., Methods: Surveys were administered to caregivers of children who receive their primary care at the same location who presented for a nonurgent sick visit to either the PCC or PED during regular PCC hours., Results: One hundred fifty-one caregivers in the PCC and 83 in the PED completed the survey. Compared with caregivers who brought their child to the PED, those who presented to the PCC were more likely to report that the child had been sick for more than 2 days (P < 0.001), indicate that the child could wait more than 3 hours to be seen (P < 0.001), have called the PCC for advice (odds ratio [OR], 5.2; 95% confidence interval [CI], 2.9-9.2), have spoken with a nurse (OR, 3.7; 95% CI, 2.0-6.7), be satisfied with their phone call to the PCC (OR, 12.2; 95% CI, 6.4-23.1), and report that they could easily get in touch with the PCC (OR, 3.6; 95% CI, 1.8-7.3). Most caregivers who went to the PCC felt that it was more convenient (98.6%) and they would be seen more quickly (95.8%)., Conclusions: Although all children had the same medical home, caregivers who presented to the PCC were more likely to have called the clinic, spoken with a nurse, and reported greater satisfaction with the PCC than those who brought their child to the PED.
- Published
- 2014
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25. Pathogenesis of type 1 diabetes: lessons from natural history studies of high-risk individuals.
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Nokoff N and Rewers M
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- Animals, Autoantibodies biosynthesis, Diabetes Mellitus, Type 1 immunology, HLA Antigens biosynthesis, Humans, Risk Factors, Diabetes Mellitus, Type 1 diagnosis, Diabetes Mellitus, Type 1 genetics, Genetic Predisposition to Disease genetics
- Abstract
Type 1 diabetes (T1D) is an autoimmune disease characterized by known genetic risk factors with T cell-mediated infiltration and destruction of the beta cells within pancreatic islets. Autoantibodies are the most significant preclinical marker of T1D, and birth cohort studies have provided important insights into the natural history of autoimmunity and T1D. While HLA remains the strongest genetic risk factor, a number of novel gene variants associated with T1D have been found through genome-wide studies, some of which have been linked to suspected environmental risk factors. Multiple environmental factors that have been suggested to play a role in the development of T1D await confirmation. Current risk-stratification models for T1D take into account genetic risk factors and autoantibodies. In the future, metabolic profiles, epigenetics, as well as environmental risk factors may be included in such models., (© 2013 New York Academy of Sciences.)
- Published
- 2013
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