Implementation of IT supported standardization of individualized hydrocortisone management for treatment of patients with adrenal insufficiency.

Objectives: Hydrocortisone stress dosing guidelines for children with adrenal insufficiency (AI) recommend a wide range of acceptable stress doses. This has led to variability in dosing recommendations resulting in confusion among endocrine, non-endocrine providers and patient families. This quality improvement project sought to standardize documentation and hydrocortisone stress dosing within our pediatric endocrine division to optimize communication regarding AI management.

Impact of overweight and obesity on epicardial adipose tissue in children with type 1 diabetes.

Objectives: Epicardial adipose tissue (EAT) thickness, a novel marker of cardiovascular disease (CVD), is increased in children with a healthy weight and type 1 diabetes (T1D). The prevalence of obesity has increased in children with T1D and may confer additional CVD risk. The purpose of this study was to examine EAT thickness in youth with and without T1D in the setting of overweight/obesity.

The Structured Oral Examination: A Method to Improve Formative Assessment of Fellows in Pediatric Endocrinology.

Objective: A structured oral exam (SOE) can be utilized as a formative assessment to provide high-quality formative feedback to trainees, but has not been adequately studied in graduate medical education. We obtained fellow and faculty perspectives on: 1) educational effectiveness, 2) feasibility/acceptability, and 3) time/cost of a SOE for formative feedback.

Methods: Four pediatric endocrinology cases were developed and peer-reviewed to generate a SOE.

High Prevalence of Gene Fusions and Copy Number Alterations in Pediatric Radiation Therapy-Induced Papillary and Follicular Thyroid Carcinomas.

Childhood cancer survivors and bone marrow transplant recipients treated with radiation therapy (RT) are at increased risk for subsequent thyroid cancer. However, the genetic landscape of pediatric thyroid cancer, both primary and RT-induced, remains poorly defined, as pediatric papillary thyroid carcinoma (PTC) has been understudied compared with adults and data on pediatric follicular thyroid carcinoma (FTC) are virtually nonexistent. The objective of this study was to characterize and compare the molecular profiles of pediatric RT-induced PTC and FTC cases with primary pediatric thyroid cancers.

Calling Consults: A Workshop to Teach Trainees Using Both Didactic and Small Group-based Learning.

Safe patient care includes effective communication. The Accreditation Council for Graduate Medical Education common program requirements include core requirements for trainees to act in a consultative manner and communicate effectively. However, trainees do not commonly receive formal education on this topic.

Severe early onset obesity and hypopituitarism in a child with a novel SIM1 gene mutation.

Summary: Single-minded homolog 1 (SIM1) is a transcription factor that plays a role in the development of both the hypothalamus and pituitary. SIM1 gene mutations are known to cause obesity in humans, and chromosomal deletions encompassing SIM1 and other genes necessary for pituitary development can cause a Prader-Willi-like syndrome with obesity and hypopituitarism. There have been no reported cases of hypopituitarism linked to a single SIM1 mutation.

A quality improvement project for managing hypocalcemia after pediatric total thyroidectomy.

Objectives Hypocalcemia following total thyroidectomy (TT) is relatively common. It may result in significant morbidity, prolonged hospital stay, and increased costs. Treatment with intravenous (IV) calcium gluconate may also carry significant risks.

Ultrasound is superior to palpation for thyroid cancer detection in high-risk childhood cancer and BMT survivors.

Purpose: Thyroid cancer is a common subsequent malignant neoplasm in childhood cancer survivors (CCS). Patients who received radiotherapy (RT) to the head, neck, upper thorax, or total body irradiation (TBI) are considered to be at risk for subsequent thyroid cancer. Current Children's Oncology Group screening guidelines recommend annual neck palpation.

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

Context: Heterozygous mutations in the aggrecan gene (ACAN) cause autosomal dominant short stature with accelerated skeletal maturation.

Objective: We sought to characterize the phenotypic spectrum and response to growth-promoting therapies.

Patients And Methods: One hundred three individuals (57 females, 46 males) from 20 families with autosomal dominant short stature and heterozygous ACAN mutations were identified and confirmed using whole-exome sequencing, targeted next-generation sequencing, and/or Sanger sequencing.

Asparaginase-Induced Hypertriglyceridemia Presenting as Pseudohyponatremia during Leukemia Treatment.

Asparaginase is a chemotherapeutic agent used to induce disease remission in children with acute lymphoblastic leukemia (ALL). We describe the cases of two females with ALL who developed pseudohyponatremia as a presentation of hypertriglyceridemia following asparaginase treatment. Nine similar published cases of asparaginase-induced hypertriglyceridemia and its complications are also discussed.

Sex differences in biomarkers associated with insulin resistance in obese adolescents: metabolomic profiling and principal components analysis.

Objective: Obesity and insulin resistance (IR) predispose to type 2 diabetes mellitus. Yet only half of obese adolescents have IR and far fewer progress to type 2 diabetes mellitus. We hypothesized that amino acid and fatty acid metabolites may serve as biomarkers or determinants of IR in obese teens.

Placental hormones and the control of maternal metabolism and fetal growth.

Purpose Of Review: To examine the roles of the placental and pituitary hormones in the control of maternal metabolism and fetal growth.

Recent Findings: In addition to promoting growth of maternal tissues, placental growth hormone (GH-V) induces maternal insulin resistance and thereby facilitates the mobilization of maternal nutrients for fetal growth. Human placental lactogen (hPL) and prolactin increase maternal food intake by induction of central leptin resistance and promote maternal beta-cell expansion and insulin production to defend against the development of gestational diabetes mellitus.