Extended Use of Histrelin Implant in Pediatric Patients.

Purpose: Histrelin implant (HI) is a gonadotropin-releasing hormone agonist (GnRHa) used in pediatrics to treat central precocious puberty (CPP) and for pubertal suppression in transgender/non-binary (TG/NB) youth with gender dysphoria. HI is designed for annual removal/replacement; however, effectiveness has been reported beyond 1 year. No previous study has assessed prolonged HI use in TG/NB youth.

Crinecerfont, a CRF1 Receptor Antagonist, Lowers Adrenal Androgens in Adolescents With Congenital Adrenal Hyperplasia.

Context: Crinecerfont, a corticotropin-releasing factor type 1 receptor antagonist, has been shown to reduce elevated adrenal androgens and precursors in adults with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD), a rare autosomal recessive disorder characterized by cortisol deficiency and androgen excess due to elevated adrenocorticotropin.

Objective: To evaluate the safety, tolerability, and efficacy of crinecerfont in adolescents with 21OHD CAH.

Methods: This was an open-label, phase 2 study (NCT04045145) at 4 centers in the United States.

Short-term pediatric thyroidectomy outcome: Analysis of the Pediatric Health Information System (PHIS) database.

Objective: Thyroidectomy is the most commonly performed pediatric endocrine surgery. Our objective is to measure the short-term outcome of pediatric thyroidectomies, and report on factors associated with postoperative complications.

Methods: This is a retrospective cohort study, performed using the Pediatric Health Information System (PHIS) database on patients ≤18 years of age, from 47 children's hospitals across the United States, who underwent partial or total thyroidectomy from January 1, 2009 to December 31, 2019.

Mutational analysis using next generation sequencing in pediatric thyroid cancer reveals BRAF and fusion oncogenes are common.

Background: We previously described mutation rates of BRAF, RAS, RET-PTC and PAX8-PPARγ in pediatric subjects with well-differentiated thyroid cancer (WDTC). We expanded the cohort adding next-generation sequencing (NGS) and assessed genotype-phenotype correlations.

Methods: Single-center retrospective cohort examining thyroidectomy tissue blocks from consecutive pediatric WDTC patients between 2001 and 2015.

Subcutaneous Testosterone Is Effective and Safe as Gender-Affirming Hormone Therapy in Transmasculine and Gender-Diverse Adolescents and Young Adults: A Single Center's 8-Year Experience.

To describe our Center's 8-year experience with subcutaneous testosterone (SC-T) as gender-affirming hormone therapy (GAHT) in transmasculine and gender-diverse (TM/GD) youth. An Institutional Review Board (IRB)-approved retrospective study for 119 TM/GD subjects who started SC-T at age 13-19 and received SC-T for >6 months between 2012 and 2020. SC-T was typically started at 25-50 mg biweekly and dose was escalated at provider's discretion.

Efficacy and safety of the addition of sitagliptin to treatment of youth with type 2 diabetes and inadequate glycemic control on metformin without or with insulin.

Objective: To assess the efficacy and safety of sitagliptin in youth with type 2 diabetes (T2D) inadequately controlled with metformin ± insulin.

Study Design: Data were pooled from two 54-week, double-blind, randomized, placebo-controlled studies of sitagliptin 100 mg daily or placebo added onto treatment of 10- to 17-year-old youth with T2D and inadequate glycemic control on metformin ± insulin. Participants (N = 220 randomized and treated) had HbA1c 6.

A randomized clinical trial of the efficacy and safety of sitagliptin as initial oral therapy in youth with type 2 diabetes.

Objective: To assess the efficacy and safety of DPP-4 inhibition with sitagliptin in youth with type 2 diabetes (T2D).

Study Design: This was a 54-week, double-blind, randomized, controlled clinical trial evaluating the safety and efficacy of DPP-4 inhibition with sitagliptin 100 mg once daily as initial oral therapy in youth with T2D. The 190 participants, aged 10-17 years, had HbA1c 6.

Improving vitamin D testing and supplementation in children with newly diagnosed cancer: A quality improvement initiative at Rady Children's Hospital San Diego.

Background: Vitamin D deficiency and insufficiency have been associated with poorer health outcomes. Children with cancer are at high risk for vitamin D deficiency and insufficiency. At our institution, we identified high variability in vitamin D testing and supplementation in this population.

Tildacerfont in Adults With Classic Congenital Adrenal Hyperplasia: Results from Two Phase 2 Studies.

Context: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) is typically treated with lifelong supraphysiologic doses of glucocorticoids (GCs). Tildacerfont, a corticotropin-releasing factor type-1 receptor antagonist, may reduce excess androgen production, allowing for GC dose reduction.

Objective: Assess tildacerfont safety and efficacy.

Diagnostic utility of fine needle aspiration cytology in pediatric thyroid nodules based on Bethesda Classification.

Objectives: The Bethesda system for reporting cytopathology (TBSRTC) has been widely adopted in the management of thyroid nodules. Based on the limited pediatric data available, the implied malignancy risk for each of the categories may be significantly different in pediatrics vs. adults, especially in the indeterminate categories (Bethesda Class III or IV).

Sociodemographic and clinical characteristics associated with vitamin D status in newly diagnosed pediatric cancer patients.

Vitamin D deficiency and insufficiency are associated with serious sequelae in childhood cancer survivors. However, data on vitamin D deficiency in children with newly diagnosed cancer are scarce and the role of sociodemographic factors and vitamin D supplementation is largely unknown. We assessed vitamin D status and its socio-demographic and clinical correlates in 163 children with newly diagnosed cancer, using 25-hydroxy vitamin D (25(OH)D) concentrations and assessed longitudinal changes following vitamin D supplementation.

Undescended retropharyngeal parathyroid adenoma with adjacent thymic tissue in a 13-year-old boy with primary hyperparathyroidism.

We describe a rare presentation of a symptomatic parathyroid adenoma located in an ectopic retropharyngeal position in a 13-year-old boy. Preoperative CT scan and MRI demonstrated the ectopic location of the parathyroid adenoma. The patient underwent successful parathyroidectomy with cure of his hyperparathyroidism.

Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy.

IPEX syndrome (Immune dysregulation, Polyendocrinopathy, X-linked) should be tested for in males under 6 months old presenting with diabetes, even without other IPEX features. Early diagnosis and bone marrow transplantation can improve outcomes.

The utility of intact parathyroid hormone level in managing hypocalcemia after thyroidectomy in children.

Introduction: Hypocalcemia is a common complication after thyroidectomy. Intact parathyroid hormone (PTH) has been successfully used as a predictive indicator for hypocalcemia in adults during the postoperative period. We aim to demonstrate the utility of PTH in predicting and managing postoperative hypocalcemia following thyroidectomy in pediatrics.

Neonatal diabetes mellitus due to a novel variant in the gene.

Neonatal diabetes mellitus (NDM) is a rare condition that presents with diabetes in the first few months of life. The treatment of NDM may differ depending on the genetic etiology, with numerous studies showing the benefit of sulfonylurea therapy in cases caused by mutations in or Mutations in the insulin gene () have also been identified as causes of NDM; these cases are generally best treated with insulin alone. We report a case of a female infant born small for gestational age (SGA) at late preterm diagnosed with NDM at 7 wk of life who was found by rapid whole-genome sequencing to harbor a novel de novo c.

Non-alcoholic fatty liver disease in pediatric type 2 diabetes: Metabolic and histologic characteristics in 38 subjects.

Background: Obesity and type 2 diabetes (T2D) is risk factors for non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH). In children with T2D and liver biopsies, we investigated correlations between NAFLD/NASH and transaminase activity, A1c, lipids, and histologic changes in repeat biopsies.

Methods: Liver histology of children with T2D was evaluated using the NASH CRN scoring system and NAFLD Activity Score (NAS).

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.

Background: The 11p15 region contains two clusters of imprinted genes. Opposite genetic and epigenetic anomalies of this region result in two distinct growth disturbance syndromes: Beckwith-Wiedemann (BWS) and Silver-Russell syndromes (SRS). Cytogenetic rearrangements within this region represent less than 3% of SRS and BWS cases.

Low vitamin D level in pediatric patients with new onset type 1 diabetes is common, especially if in ketoacidosis.

Background: Vitamin D deficiency (VDD) adversely affects bone health. US data on prevalence of VDD or vitamin D insufficiency (VDI) at diagnosis of type 1 diabetes (T1D) is lacking. Low serum 25-hydroxyvitamin D (25OHD) is speculated to increase the risk of developing T1D.

Pediatric thyroid surgery and management of thyroid nodules - an institutional experience over a 10-year period.

Background: We reviewed our institutional experience in the diagnosis and management of pediatric thyroid nodules and well-differentiated thyroid carcinoma (WDTC), highlighting the unique challenges in this population.

Methods: IRB approved retrospective chart review was conducted on patients who underwent fine needle aspiration (FNA) or thyroid surgery from 1/1/2001 to 12/31/2010 at Rady Children's Hospital San Diego, a tertiary referral center in Southern California. Patients thus identified who completed their initial treatment at our institution were included.

Mutational Analysis in Pediatric Thyroid Cancer and Correlations with Age, Ethnicity, and Clinical Presentation.

Background: Well-differentiated thyroid cancer (WDTC) incidence in pediatrics is rising, most being papillary thyroid carcinoma (PTC). The objective of the study was to assess the prevalence of different mutations in pediatric WDTC and correlate the genotype with the clinical phenotype.

Methods: This is a single-center retrospective study.

Bone maturation along the spectrum from normal weight to obesity: a complex interplay of sex, growth factors and weight gain.

Background: The aim of the study was to define the prevalence and degree of advanced bone age (ABA) in normal vs. excessive weight children, and identify variables affecting ABA.

Methods: We studied 167 children (3-18 years) with normal weight (28 F, 28 M), overweight (8 F, 12 M), and obesity (OB) (63 F, 28 M) at AI duPont Hospital for Children.

Topical sulfonylurea as a novel therapy for hypertrichosis secondary to diazoxide, and potentially for other conditions with excess hair growth.

It is hypothesized that a topical application of a sulfonylurea drug, which can inhibit the ATP-sensitive potassium-gated channels (Kir6.X/SUR) present in human hair bulb tissues, will inhibit hair growth in a targeted manner. Diazoxide is used to treat severe hypoglycemia due to hyperinsulinism of infancy.

A 4-Year, Open-Label, Multicenter, Randomized Trial of Genotropin® Growth Hormone in Patients with Idiopathic Short Stature: Analysis of 4-Year Data Comparing Efficacy, Efficiency, and Safety between an Individualized, Target-Driven Regimen and Standard Dosing.

Background/aims: Growth hormone (GH) treatment regimens for children with non-GH-deficient, idiopathic short stature (ISS) have not been optimized. To compare the efficacy, efficiency, and safety of an individualized, target-driven GH regimen with standard weight-based dosing after 4 years of treatment.

Methods: This is a 4-year, open-label, multicenter, randomized trial comparing individualized, formula-based dosing of Genotropin® versus a widely used ISS dose of Genotropin®.

Evaluation of the American-English Quality of Life in Short Stature Youth (QoLISSY) questionnaire in the United States.

Background: The European Quality of Life in Short Stature Youth (QoLISSY) is a novel condition-specific instrument developed to assess health related quality of life (HrQoL) in children/adolescents with short stature from patient and parent perspectives. Study objective was to linguistically validate and psychometrically test the American-English version of the QoLISSY instrument.

Methods: Upon conversion of the British-English version to American-English, content validity and acceptance of the questionnaire were examined through focus group discussions with cognitive debriefing in 28 children/adolescents with growth hormone deficiency (GHD) or idiopathic short stature (ISS) and their parents.

Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia.

Introduction: Hyperinsulinism associated with Beckwith-Wiedemann syndrome (BWS) can occur in about 50% of cases, causing hypoglycemia of variable severity. Parenteral use of octreotide may be indicated if unresponsive to diazoxide. There is limited data on use of octreotide in BWS.