Characteristics of Patients with Classic Congenital Adrenal Hyperplasia Missed on the Newborn Screen.

Introduction: Newborn screening for congenital adrenal hyperplasia (CAH) has been in place in the USA for over 20 years. However, not all patients with classic CAH are diagnosed as neonates. Our aim was to characterize patients with classic CAH who were missed on the newborn screen (NBS) in Indiana and determine if discriminating features were present that might have led to earlier detection.

Patient and Parent Perspectives on Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia.

Background: Testicular adrenal rest tumors (TARTs) increase the risk of infertility in males with classic congenital adrenal hyperplasia (CAH). There is no consensus regarding at what age screening testicular ultrasounds should begin and how often they should be repeated. Furthermore, it is unknown whether patients and parents are aware of the significance of TARTs.

Do All Patients with Congenital Adrenal Hyperplasia Need to Be on Hydrocortisone Three Times a Day in Order to Have Normal Growth?

Background: Three times daily (TID) hydrocortisone (HC) is recommended as the optimal glucocorticoid regimen in growing children with congenital adrenal hyperplasia (CAH). However, a variety of other treatment schemes are used in the clinical setting.

Objective: The aim of this study was to determine whether there are clinical differences between children being treated with TID HC versus those receiving other glucocorticoid regimens.

A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal.

Two siblings with the same male unbalanced karyotype demonstrate sex reversal. The older sib appeared phenotypically female and the younger sib demonstrated a male gender. The female had gonadal dysgenesis with bilateral ovatestes.

Adrenal Insufficiency in Children With Eosinophilic Esophagitis Treated With Topical Corticosteroids.

Objectives: The aim of the study was to identify practices of gastroenterologists screening for adrenal insufficiency (AI) and report prevalence of AI in children with eosinophilic esophagitis (EoE) treated with topical corticosteroids (TCS); compare serum dehydroepiandrosterone sulfate (DHEA-S) levels to morning serum cortisol (MSC) levels as screening tool for AI.

Methods: A multipart study was conducted. In part 1, a survey about screening practices for AI in children with EoE on TCS was sent to gastroenterologists belonging to a PedsGI listserv and to EoE consortia.

Prevalence of Nephrocalcinosis in Pseudohypoparathyroidism: Is Screening Necessary?

The prevalence of nephrocalcinosis in persons with pseudohypoparathyroidism has not been systematically examined. We conducted a retrospective study of renal imaging and biochemical results in 19 patients with pseudohypoparathyroidism with 49 imaging assessments. No cases of nephrocalcinosis were identified.

Pediatric toxic polycystic thyroid.

Background: Polycystic thyroid disease (PCTD) is a rare condition and has been described in adults in the setting of subclinical and clinical hypothyroidism. We present the first known case of a pediatric patient with diffuse macrocystic degeneration of the thyroid.

Clinical Presentation: A 6-year-old previously healthy patient was evaluated after presenting with a 16-month history of an enlarging polycystic thyroid and hyperthyroidism.

Change in BMI after radioactive iodine ablation for graves disease.

Background: We aimed to determine the extent of post-treatment weight gain that occurs in pediatric patients in the first year following radioactive iodine (RAI) therapy for Graves disease (GD) and its relationship to clinical characteristics.

Methods: A retrospective chart review of patients receiving RAI therapy for GD between 1998-2015 was performed. Change in BMI SDS (∆BMI SDS) from baseline to one year after treatment was determined.

Differential effects of hydrocortisone, prednisone, and dexamethasone on hormonal and pharmacokinetic profiles: a pilot study in children with congenital adrenal hyperplasia.

Background: Little is known about the comparative effects of different glucocorticoids on the adrenal and growth hormone (GH) axes in children with congenital adrenal hyperplasia (CAH). We sought to compare the effects of hydrocortisone (HC), prednisone (PDN), and dexamethasone (DEX) in children with classic CAH and to investigate a potential role of pharmacogenetics.

Methods: Subjects were randomly assigned to three sequential 6-week courses of HC, PDN, and DEX, each followed by evaluation of adrenal hormones, IGF-1, GH, and body mass index (BMI).

Endocrine Effects of Inhaled Corticosteroids in Children.

Inhaled corticosteroids (ICSs) are widely used as first-line treatment for various chronic respiratory illnesses. Advances in devices and formulations have reduced their local adverse effects. However, as delivery of ICSs to the lungs improves, the systemic absorption increases, and an adverse effect profile similar to, although milder than, oral corticosteroids has emerged.

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

Inactivating mutations in chromodomain helicase DNA binding protein 7 (CHD7) cause CHARGE syndrome, a severe multiorgan system disorder of which Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is a minor feature. Recent reports have described predominantly missense CHD7 alleles in IGD patients, but it is unclear if these alleles are relevant to causality or overall genetic burden of Kallmann syndrome (KS) and normosmic form of IGD. To address this question, we sequenced CHD7 in 783 well-phenotyped IGD patients lacking full CHARGE features; we identified nonsynonymous rare sequence variants in 5.

Discrepancies between reported self-monitored blood glucose results and point-of-care hemoglobin A1c in children with diabetes: lessons to be learned.

Background: The hemoglobin A1c (HbA1c) assay is considered the gold standard for assessing glycemic control in children and adolescents with type 1 diabetes mellitus (T1DM). In recent years, point-of-care (POC) testing has been more commonly used in the outpatient clinic. However, despite its popularity, little is known about the accuracy of the POC methods in children.

Does clinical management impact height potential in children with severe acquired hypothyroidism?

Background: Severe acquired hypothyroidism often results in significant height deficit due to rapid bone age advancement following treatment. Whether gradual correction of hypothyroidism and/or adjunctive growth-promoting therapies (GPTs) augment final adult height (FAH) is controversial.

Objective: To investigate time to euthyroidism, pace of bone age advancement (deltaBA/deltaCA), and impact of GPTs on FAH.

Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis.

Mixed gonadal dysgenesis (MGD) is a form of sex chromosome disorder of sex development with large phenotypic variability. Patients with MGD typically have asymmetric and ambiguous genitalia with a combination of Müllerian and Wolffian duct derivatives. Prenatal androgen exposure results in variable degrees of phallic enlargement and a urogenital sinus.

Detours on the road to diagnosis of Graves disease.

Objectives: The aims of this study were to determine the frequency at which spurious diagnoses and unnecessary treatment occurs prior to the diagnosis of Graves disease (GD) and to evaluate the economic consequences of these events.

Methods: Retrospective chart review of children diagnosed with GD.

Results: A total of 76 children (61 girls) aged 11.

Serendipitous identification of Graves' disease in identical twins with polydipsia.

Graves' disease in adolescents and adults usually presents with classic symptoms including weight loss, frequent stools, irritability, and heat intolerance. However, the clinical manifestations of hyperthyroidism in young children are often subtle, unrecognized, and atypical. Here, we report a 6 year-old girl who presented for evaluation of increased.

Spurious case of XX maleness in a patient with a history of Wiskott-Aldrich syndrome.

Objective: To alert endocrinologists about the potential for karyotype confusion in patients who have undergone bone marrow transplantation.

Methods: Clinical, laboratory, and imaging data are reported on a young adult male patient who initially presented because of concerns about short stature.

Results: An 18-year-old fully virilized male patient with a history of Wiskott-Aldrich syndrome had undergone successful bone marrow transplantation in infancy.

Newborn screening results in children with central hypothyroidism.

Objective: To investigate newborn screening results in children with congenital hypopituitarism, including central hypothyroidism, and to determine whether there were differences between children who had abnormal results and children with normal newborn screening results.

Study Design: Medical records of children with central hypothyroidism observed in our pediatric endocrinology clinics from 1990 to 2006 were reviewed.

Results: Forty-two subjects (22 boys) were identified.

Growth and reproductive outcomes in congenital adrenal hyperplasia.

The treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is complex. In addition to disease control, important therapeutic goals are the maintenance of normal growth and the acquisition of normal reproductive function. Here, data regarding final adult height (FH) in patients with CAH will be reviewed.