Search

The pathophysiology underlying pseudotumor cerebri syndrome (PTCS) is complex and not well understood. There are clear differences between PTCS in adults and pediatrics. Few and isolated case reports have suggested that adrenal function may be involved, yet no large cohort study has examined this relationship.We conducted a retrospective single-center study of children who presented with a diagnosis of PTCS and had cortisol testing measured between January 2010 and September 2019. We included all subjects meeting the revised PTCS diagnostic criteria after the chart review. Based on morning, random or 1-μg cosyntropin stimulated cortisol levels, adrenal functioning was classified as: (1) insufficient (peak cortisol16 μg/dL and AM cortisol5 μg/dL), (2) at risk (peak cortisol 16-20 μg/dL, AM cortisol 5-13 μg/dL, or random13 μg/dL), or (3) sufficient (peak cortisol20 μg/dL and AM or random cortisol13 μg/dL).A total of 398 individuals were reviewed, and 64 were included for analysis. Of these, 40.6% were men, of mixed race and ethnicity with a mean age of 10.5 (SD 4.7) years. Of these, 23% and 52% had insufficient or at-risk cortisol levels. The majority of those in the insufficient (70%) or at-risk (80%) groups were exposed to topical, nasal, or inhaled glucocorticoids but not systemic. Only 60% and 12% of those with PTCS with insufficient or at-risk cortisol testing, respectively, underwent definitive testing with a stimulation test.Glucocorticoid use and hypocortisolism are prevalent in PTCS and need consideration as a potential underlying cause. Most children had insufficient or at-risk cortisol levels, and many did not undergo further testing/workup. Children who present with PTCS, particularly young, males should be evaluated for adrenal insufficiency and its risk factors, including nonsystemic steroids. Prospective studies are necessary to further evaluate the effect of cortisol in relation to pediatric PTCS.

BackgroundPrimary ovarian insufficiency (POI) can be seen in adolescents secondary to genetic or autoimmune conditions, or gonadotoxic therapies. Often times, its underlying cause is not identified. It is a rare condition in pediatrics, but a thorough evaluation is required for a timely diagnosis and optimizing outcomes.ObjectivesWe aim to describe the clinical phenotype of idiopathic POI in an adolescent population seen in a referral center, and evaluate its diagnostic approach.MethodsAll patients evaluated between 2012 and 2018 were identified using the diagnostic codes for POI. Medical records were manually reviewed and clinical information was extracted. Cases were excluded from the final sample if they were found to have incomplete diagnostic information, Turner syndrome, eating disorders, gonadal surgeries and/or a history of oncological conditions or treatments.ResultsForty-eight patients with POI were identified, and only seven met the established criteria. Anti-ovarian and anti-thyroid antibodies were evaluated in 100% and 86%, respectively, while only 29% were tested for anti-adrenal autoimmunity. The karyotype was obtained consistently, while the fragile X mental retardation 1 (FMR1) gene expansion was only assessed in approximately a third of the patients. Finally, only 29% of patients received reproductive counseling or referral to a fertility specialist.ConclusionsDiagnostic evaluation for POI appears to be challenging to pediatric providers. Anti-ovarian antibodies are frequently obtained despite the lack of their clinical significance in POI, while anti-adrenal antibodies, which are the preferred diagnostic test, are not commonly obtained. Reproductive orientation or referral is seldom provided to the adolescent population.

By December 2020, coronavirus disease 2019 (COVID-19) had claimed the lives of more than 200,000 in the United States alone, with more than 10.8 million people infected (1). As the numbers grow, we continue to learn that this disease has wide-ranging outcomes of varying severity affecting multiple organs (2). Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the novel virus causing COVID-19, uses the ACE 2 receptor to enter human cells. This receptor is expressed in 15 different human organs (3). Moreover, it is avidly expressed in the pancreatic islets, but not on the exocrine pancreas, suggesting that the virus may directly affect β-cells (3). The full effects of COVID-19 on diabetes are yet to be determined, but worse outcomes have been reported in adult patients with obesity, impaired glucose metabolism, and diabetes (4). Furthermore, new-onset diabetes, ketosis in people without diabetes, diabetic ketoacidosis (DKA), and worsening metabolic complications in patients with known diabetes have all been reported in adults with COVID-19 (5–7). Some experts have proposed a diabetogenic effect of COVID-19, perhaps presenting as a novel type of diabetes (8). Herein, we describe a case of new-onset, autoantibody-negative diabetes presenting with DKA and marked insulin resistance in an otherwise healthy, nonobese adolescent. A 12-year-old previously healthy White Hispanic boy presented with a 1-week history of abrupt-onset polyuria, polydipsia, headache, and fatigue. He had no weight loss, fever, cough, anosmia, or diarrhea. Laboratory testing revealed DKA, with a blood pH of 7.04, glucose of 381 mg/dL, C-peptide level of 0.6 ng/mL, β-hydroxybutyrate level of 8.2 mmol/L, A1C of 11.3%, and a positive nasopharyngeal reverse transcription-PCR (RT-PCR) test for SARS-CoV-2. There was evidence of pancreatic inflammation (lipase 179 units/L [normal range 15–110]), but no elevation in systematic inflammatory markers, and all autoantibody tests for autoimmune diabetes were negative (Table …

Purpose: Today, male and female adult and pediatric cancer patients, individuals transitioning between gender identities, and other individuals facing health extending but fertility limiting treatments can look forward to a fertile future. This is, in part, due to the work of members associated with the Oncofertility Consortium. Methods: The Oncofertility Consortium is an international, interdisciplinary initiative originally designed to explore the urgent unmet need associated with the reproductive future of cancer survivors. As the strategies for fertility management were invented, developed or applied, the individuals for who the program offered hope, similarly expanded. As a community of practice, Consortium participants share information in an open and rapid manner to addresses the complex health care and quality-of-life issues of cancer, transgender and other patients. To ensure that the organization remains contemporary to the needs of the community, the field designed a fully inclusive mechanism for strategic planning and here present the findings of this process. Results: This interprofessional network of medical specialists, scientists, and scholars in the law, medical ethics, religious studies and other disciplines associated with human interventions, explore the relationships between health, disease, survivorship, treatment, gender and reproductive longevity. Conclusion: The goals are to continually integrate the best science in the service of the needs of patients and build a community of care that is ready for the challenges of the field in the future.

Purpose: To evaluate the availability of fertility preservation (FP) services and educational resources on the websites of top-ranked U.S. pediatric cancer programs. Methods: Cross-sectional survey...

Background: Idiopathic intracranial hypertension (IIH) is a condition of elevated intracranial pressure without identifiable secondary causes. The childhood incidence is 0.7 per 100,000 and increases with age, obesity, and female gender. Few case reports in the literature, and our own experience, suggest there may be an association between IIH and adrenal insufficiency (AI) but the real extent is unknown. Aim: To describe the prevalence of AI in children presenting with IIH to a large pediatric referral center. Methods: Retrospective chart review identified all children who presented with IHH and had cortisol measured between January 2010 and September 2019. Based on morning, random or 1 mcg ACTH stimulated cortisol levels, adrenal functioning was classified as: (1) deficient (peak cortisol 20 μg/dl, AM or random cortisol >13 μg/dl). Descriptive data present mean (+/- standard deviation), and chi-squared (χ 2) tests of differences are used to examine differences between the adrenal functioning groups. Results: Participants (N=64) were 40.6% male, of mixed ancestry (61% non-Hispanic white; 19% African-American, 16% Hispanic White and 5% Asian), with a mean age of 10.8 (4.8) years. Cortisol levels were obtained at an average of 0.6 (1.9) years after diagnosis of IIH; 23% and 52% of patients had insufficient or at risk cortisol levels. The majority of those in the insufficient (70%) or at risk (80%) groups were exposed to topical, nasal or inhaled corticosteroids, but not systemic. Only 60% and 12 % of those with IIH and insufficient or at risk cortisol testing, respectively, underwent definitive testing with a stimulation test. Adrenal function did not differ by age, race/ethnicity, zBMI, nor prolong exposure to steroids (> 2 weeks), time between IIH diagnosis and cortisol testing (all P>.05). Those in the deficient group were less likely to be female (33%) than those in the at risk (61%; χ 2=3.07, df=1, P=.001) or sufficient (81%; χ 2=7.30, df=1, P.05) Conclusions: Steroid use and AI are common in IIH and need consideration as a cause of IIH development. Appropriate diagnosis and treatment of AI in children who present with IIH may lead to its resolution, significantly impacting clinical outcomes of these children. In our cohort, the majority had AI or at risk cortisol levels, and many did not undergo further testing. All young children who present with IIH should be evaluated for steroid exposure, including non-systemic steroids, and undergo evaluation for AI. Caution should be utilized in pediatric providers prescribing these medications. More prospective studies are required to evaluate the effects of steroid use in relation to IIH development.

Background: SARS-CoV-2 uses the angiotensin-converting enzyme 2 (ACE2) receptor to enter human cells. This receptor is avidly expressed in the pancreatic islets, suggesting the virus may target β-cell function. 17% of adults with COVID-19 have evidence of pancreatic injury. There is a direct relation between insulin resistance and COVID-19 severity and mortality with patients with higher insulin resistance presenting with higher inflammatory response. Fulminant type 1 diabetes (fT1D) has abrupt onset of symptoms with insulinopenia without evidence of autoimmunity, usually preceded by viral illness. Clinical case: A 12-year-old Hispanic male presented with a week history of polyuria, polydipsia, headache, and fatigue but no weight loss, fever, cough, anosmia, or diarrhea. Laboratory testing revealed new onset diabetes with DKA with HbA1C 11.3%, blood pH 7.04, glucose 381 mg/dL, C-peptide 0.6 ng/mL, β-hydroxybutyrate 8.2 mmol/L, and a positive nasopharyngeal PCR for SARS-CoV-2 but no elevation of inflammatory markers (CRP, ESR and ferritin). There was evidence of mild pancreatic injury (lipase 179 U/L, n:15-110 U/L), and all autoantibodies for autoimmune diabetes were negative. He was pubertal (Tanner 3), non-obese (BMI Z score -0.3) and without acanthosis nigricans. Past medical and family history were non-contributory. He was treated with IV insulin at 0.1 u/kg/h until DKA resolved within 24 h then transitioned to subcutaneous insulin at 1 u/kg/day. He did not have signs of systemic inflammatory response, need for respiratory support, or glucocorticoids but had persistent hyperglycemia prompting an increase of insulin dosing and resumption of IV insulin. His insulin requirements continued to increase up to 4 u/kg/d with sustained hyperglycemia indicative of an exceptional state of insulin resistance. On Day 6 of admission metformin was initiated, on Day 9 insulin requirements declined and he was discharged on an insulin regimen close to 1.5 u/kg/d. Eventually metformin was discontinued on Day 20 after diagnosis without rebound in insulin requirements. On Day 28 he had improved glycemic control (HbA1c 8.8%) at insulin doses more appropriate for his age and pubertal status (0.9 u/kg/d). Clinical lessons: We report a case of autoantibody negative diabetes with pancreatic injury and marked insulin resistance unrelated to systemic inflammatory response associated with COVID-19. The clinical presentation was reminiscent of fT1D with the exception of exceptional insulin resistance. This is perhaps a novel form of diabetes mellitus not otherwise classified. Although the pathophysiology remains obscure, it is plausible that it is mediated by direct islet injury. Notably, there was a discordance between the severity of illness and insulin resistance suggesting an intrinsic effect of SARS-CoV-2 on glucose hemostasis.

Background Primary ovarian insufficiency (POI) is characterized by ovarian dysfunction resulting in premature cessation of menses. Excluding patients with gonadal dysgenesis, it is estimated that only 0.01% of adolescents will experience POI. After thorough evaluation, the underlying cause remains elusive in 85-90% of cases. Ovarian function in POI is variable, intermittent, and unpredictable. The lack of well-established criteria and low prevalence in adolescents make the diagnosis and management challenging. Methods Using diagnostic codes we identified all cases of ovarian insufficiency between 2012 and 2018 seen at a children’s hospital in South Florida. We reviewed all cases diagnosed with ovarian insufficiency and chose those meeting current adult diagnostic criteria for POI for further analysis. Patients with missing information, gonadal dysgenesis, eating disorders, gonadal surgeries and/or a history of oncological conditions, or exposure to gonado-toxic treatments, were excluded. We conducted chart reviews, and relevant clinical and diagnostic information was extracted. Results A total of 48 patients diagnosed with ovarian insufficiency were identified; only seven met inclusion criteria. Mean age of diagnosis was 15.5 and 15.2 years respectively for primary and secondary amenorrhea. Patients with POI were evaluated and treated by the pediatrician, endocrinologist, and/or adolescent medicine specialist. Anti-ovarian antibodies were evaluated in all cases, anti-thyroid antibodies in six of the patients, but only two patients were tested for the presence of anti-adrenal antibodies. Karyotype was obtained in all of them, while genetic evaluation of FMR1 gene was performed in two. Finally, only two patients received reproductive counseling or were referred to a fertility specialist. One of them was referred after she had a spontaneous pregnancy and voluntary interruption. Conclusions Anti-ovarian antibodies were always obtained despite their lack of clinical significance in POI. Anti-adrenal antibodies, which are a better diagnostic test, were not evaluated as often as expected. Genetic evaluation was mostly limited to karyotype. Evaluation for FMR-1 premutation may be helpful for the diagnosis and management of the patient, as well as other female relatives. Only two of the seven patients received reproductive counseling or were referred to reproductive medicine. This is a key part of the evaluation and management of POI, since an early and appropriate intervention may improve the chances of fertility preservation as well as promote reproductive health in the adolescent population. Better training in the evaluation and management of patients with POI is needed across pediatric providers that care for these patients.

Background: Maturity onset diabetes of the young (MODY) 5 is a rare type of dominantly inherited diabetes mellitus (DM). It is caused by mutations of the hepatocyte nuclear factor-1beta (HNF-1 beta) gene. Most are missense mutations that produce truncated proteins resulting in a variable clinical spectrum that may include kidney, genital and pancreatic abnormalities. We describe a case of a young patient diagnosed with DM after renal transplant; also, his diagnosis disclosed extensive family history of DM. Case: Six-year-old African-American patient with history of end stage renal disease due to bilateral cystic dysplasia presented with significant hyperglycemia three days after renal transplant. Polycystic kidney disease observed in prenatal ultrasound led to genetic testing. He was found to have a 1.0-1.8Mb deletion on chromosome microarray at 17q12 that included TCF2/HNF1B genes. His HbA1C was 5.8% at time of endocrine evaluation. He received one time high dose steroids in operating room and was started on tacrolimus after transplant. Pancreatic ultrasound showed normal pancreatic head, body not visualized. He was sent home with intensive insulin management on day 20 after renal transplant. Patient’s family history revealed mother with diagnosis of type 2 diabetes mellitus (T2DM) at age 19, maternal grandmother and great-grandmother diagnosed at early age with T2DM as well. Discussion: HNF-1 beta gene encodes a transcription factor that regulates nephron and embryonic pancreas development. MODY 5 is clinically heterogeneous disorder and the degree of insulin deficiency is variable, some family members who carry the gene remain free of diabetes into later adult life. The mean age of diagnosis of DM is 26 years with a range of 10–61 years. Our patient is only six years old and he may have presented earlier due post-transplant status, high dose steroids and tacrolimus use, all factors known to be triggers for hyperglycemia but the persistence of insulin requirement and levels of HbA1C being on pre-diabetes range at time of evaluation might be a sign of early deterioration of pancreatic function. Diagnosis of MODY5 has important implications for treatment, prognosis, and genetic counseling. Diabetes in these patients requires early use of insulin. Patient’s family members were advised to undergo genetic testing and screening for renal abnormalities and DM. Further studies on the correlation of phenotypes and genotypes will help delineate the clinical course of MODY 5. Unless otherwise noted, all abstracts presented at ENDO are embargoed until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. Abstracts presented at a news conference are embargoed until the date and time of the news conference. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.

Importance Pediatric pseudotumor cerebri syndrome pathophysiology is complex and not well delineated. Therefore, it is important to identify potential contributors or targets underlying the primary pathogenesis for its development. Objective To report cases highlighting the association of pediatric pseudotumor cerebri syndrome with adrenal insufficiency. Design, setting, and participants This noncontrolled, observational case series included pediatric patients diagnosed with pseudotumor cerebri syndrome and adrenal insufficiency at an urban academic children's hospital in Houston, Texas, from June 2015 to October 2019. Main outcomes and measures Monitoring optic nerve edema by clinical examination, fundus photography, and optical coherence topography images of the optic nerve. Results Data were collected from 5 pediatric patients (age range, 5-10 years) diagnosed with pseudotumor cerebri syndrome and adrenal insufficiency. One was a girl; all were White and prepubertal. Three patients had unrecognized glucocorticoid exposure. All patients had bilateral optic nerve edema that was initially treated with acetazolamide or topiramate, but cortisol functional testing by either 8 am cortisol or cosyntropin stimulation tests revealed a diagnosis of central adrenal insufficiency. Treatment with physiological doses of hydrocortisone resulted in resolution of optic nerve edema and clinical symptoms of pseudotumor cerebri syndrome, as well as a shorter time receiving medical therapy. Conclusions and relevance In this case series, adrenal insufficiency was associated with both primary and secondary prepubertal pediatric pseudotumor cerebri syndrome. As a potential target specific to causative mechanism, physiologic hydrocortisone therapy resolved the condition. To date, there remains a global unawareness among clinicians about the suppressive outcome that glucocorticoids may have on the developing hypothalamic-pituitary-adrenal axis, resulting in adrenal insufficiency and so-called episodic pseudotumor cerebri syndrome in young children. Ophthalmologists and pediatric subspecialists should implement cortisol testing via either 8 am cortisol or cosyntropin stimulation tests at initial evaluation of all children with pseudotumor cerebri syndrome and risk factors for adrenal insufficiency, no predisposing causes, or nonresponse to conventional treatment. Further management and treatment should be in combination with ophthalmology and endocrine services.

Background:Krukenberg tumors are ovarian metastatic adenocarcinomas with a primary origin usually located in the stomach, colon, gallbladder, pancreas, or breast. Occasionally, these tumors produce virilization in the affected individual due to androgen production by luteinization of the tumoral stroma. It is believed that during pregnancy these tumors are more likely to increase androgen production due to the elevated levels of human chorionic gonadotropin (hCG). High maternal androgens can cross the placenta producing virilization of the female fetus.Case presentation:A 46,XX newborn female, whose mother was diagnosed with a metastatic ovarian tumor during her second trimester of gestation associated with worsening hirsutism and acne, was found to have ambiguous genitalia at birth. Testosterone levels in both the mother and infant were elevated. Follow-up laboratory tests showed progressive normalization of circulating androgens after delivery.Conclusions:Krukenberg tumors are rare and may produce virilization of the mother and the female fetus when present during pregnancy.

Worldwide, acute respiratory infections (ARI) are the leading cause of death of children under 5 years of age.To assess the accomplishment of the Millennium Development Goal on under-5 mortality particularly related to ARI in developing countries, and to explore the associations between country characteristics and ARI in children under 5 taking into account child, mother and household attributes.The study included a representative sample of 354,633 children under 5 years from 40 developing nations. A multilevel analysis of data from the Demographic and Health Surveys and the World Bank was conducted.The prevalence of ARI was 13%. Country inequalities were associated with the disease - GINI index (95% CI 1.01-1.04). The country's per capita gross domestic product (GDP) (95% CI 1.00-1.01) and health expenditure (95% CI 1.01-1.01) affected the relationship between immunization and ARI, while inequalities influenced the relationship between household wealth (95% CI 0.99-0.99) and the disease. Other factors positively associated with ARI were male gender, low birthweight, working mothers and a high-risk indoor environment. Factors associated with ARI reduction were older children, immunization, breastfeeding for more than 6 months, older maternal age, maternal education and planned pregnancy.In developing countries, public health campaigns to target ARI should consider the country's macro characteristics. At country level, inequalities but not health expenditure or GDP were associated with the disease and were independent of child, family and household characteristics. The effect of immunization on reducing ARI is greater in countries with a higher GDP and health expenditure. The effect of household wealth on ARI is less in countries with fewer inequalities. Reduction of inequalities is an important measure to decrease ARI in developing countries.

Resumen El numero de partos por cesarea ha aumentado durante los ultimos anos. Esto se ha relacionado con un incremento en las anormalidades de la insercion placentaria para embarazos futuros, asi como de otras complicaciones feto-placentarias. Las patologias placentarias y el manejo quirurgico que suelen requerir ensombrecen drasticamente el pronostico materno-fetal. Reportamos un caso de una mujer multipara quien cursa con un caso de percretismo placentario, placenta previa y abruptio de placenta, que ingreso en el servicio de ginecoobstetricia en un hospital universitario siendo sometida a manejo quirurgico multidisciplinario de urgencia obteniendo resultados materno-fetales satisfactorios.

Background: Low birth weight (LBW) is one of the most important factors affecting child morbidity and mortality worldwide; approximately one third of neonatal deaths are attributable to it. Most research and public health policy on LBW arise from developed nations, despite that most cases (96.5%) take place in developing countries. The specific features of prenatal care that prevent LBW in developing countries are unclear. This study aims to identify the characteristics of prenatal care associated with LBW in a developing country as Colombia. Methods: Observational cross-sectional study using data from the Colombian Demographic and Health Survey 2010. A total of 10,692 children were included. Descriptive statistics were calculated, followed by bivariate regressions of LBW with all other study variables. Finally, stepwise logistic binomial regression analyses were done. Results: A LBW prevalence of 8.7% was found. Quality of prenatal care (95%CI: 0.33, 0.92; OR=0.55), number of prenatal visits (95%CI: 0.92, 0.93; OR=0.92), and first prenatal visits during pregnancy (95%CI: 1.02, 1.07; OR=1.08) were associated with LBW even after controlling for all the studied variables. The health care provider conducting prenatal checkup, and insurance coverage, were not associated with LBW. Conclusion: This research provides information on the characteristics of prenatal care (quality, number of visits, and gestational age at first prenatal visit) which may strengthen LBW prevention in Colombia and possibly in countries with similar socioeconomic characteristics. © 2015 Pinzón-Rondón et al.

Background: Each year 2.5 billion cases of diarrheal disease are reported in children under five years, and over 1,000 die. Country characteristics could play a role on this situation. We explored associations between country characteristics and diarrheal disease in children under 5 years of age, adjusting by child, mother and household attributes in developing countries. Methods: This study included 348,706 children from 40 nations. We conducted a multilevel analysis of data from the Demographic and Health Surveys and the World Bank. Results: The prevalence of acute diarrhea was 14 %. Country inequalities (OR = 1.335; 95 % CI 1.117-1.663) and country's low income (OR = 1.488; 95 % CI 1.024-2.163) were associated with diarrhea, and these country characteristics changed the associations of well-known determinants of diarrhea. Specifically, living in poor countries strengthens the association of poor household wealth and mother's lack of education with the disease. Other factors associated with diarrhea were female sex of the child (OR = 0.922; 95 % CI 0.900-0.944), age of the child (OR = 0.978; 95 % CI 0.978-0.979), immunization status (OR = 0.821; 95 % CI 0.799-0.843), normal birthweight (OR = 0.879; 95 % CI 0.834-0.926), maternal age (OR = 0.987; 95 % CI 0.985-0.989), lack of maternal education (OR = 1.416; 95 % CI 1.283-1.564), working status of the mother (OR = 1.136; 95 % CI 1.106-1.167), planned pregnancy (OR = 0.774; 95 % CI 0.753-0.795), a nuclear family structure (OR = 0.949; 95 % CI 0.923-0.975), and household wealth (OR = 0.948; 95 % CI 0.921-0.977). Conclusions: Inequalities and lack of resources at the country level in developing countries -but not health expenditure- were associated with acute diarrhea, independently of child, family and household features. The broad environment considerably modifies well-known social determinants of acute diarrhea and public health campaigns designed to target diarrhea should consider macro characteristics of the country. © 2015 Pinzón-Rondón et al.