ESPE Abstracts

Introduction: Adult height in individuals with Congenital Adrenal Hyperplasia (CAH) is reduced compared to the general population as their growth during childhood can be negatively impacted by both the disease and its treatment. Excess production of androgens through aromatization to estrogens can accelerate height velocity and skeletal maturity, and lead to short stature if not adequately suppressed. Over suppression of adrenal steroids through excess glucoco...

Background: Although Centers for Disease Control and Prevention (CDC) and World Health Organization growth charts, dichotomizing “girls versus boys,” are commonly used, scenarios exist where this binary approach may not be ideal. These scenarios include care for transgender youth undergoing transitions, non-binary youth, and rare diseases where sex-specific growth chart creation is impractical. There is a need for growth charts and z-score calculat...

Background: Non-classic congenital adrenal hyperplasia (NC-CAH) is caused by pathogenic variants of the CYP21A2 gene, and in most cases is not associated with cortisol deficiency as is the classic (severe) form. The majority of children with NC-CAH are asymptomatic and do not require cortisol replacement therapy with hydrocortisone unless they develop symptoms of hyperandrogenemia such as early pubarche, growth acceleration, advanced bone age, and ultimately s...

Background and Aims: MicroRNAs play important regulatory roles in cholesterol homeostasis and endothelial dysfunction. The aim of present study was to characterize the expression of miRNAs in overweight/obese adolescents and to identify the possible correlation with metabolic profile and inflammatory biomarkers.Methods: 79 overweight and obese adolescents aged 13.0±2.0 years and 28 normal weight adolescents aged 13....

Background: Medulloblastoma is the most common malignant pediatric brain tumor. Although survival has improved with oncological therapy, late effects such as endocrine consequences are common, especially growth failure and thyroid dysfunction.Methods: Children diagnosed with medulloblastoma in a pediatric hospital between 2004 and 2014 were studied and followed until 2019. Statistical analysis was performed to estimate t...

Though up to fourteen different MODY subtypes have been so far described, there are no studies in the literature which have determined their actual frequency and prevalence in pediatric patients.Objectives: To identify the underlying molecular basis in a cohort of pediatric patients with a suspected clinical diagnosis of MODY by targeted NGS.Materials/Methods: Cohort of 60 patient fulfilling MODY c...

Introduction: The survival rates for childhood cancer have significantly increased over the past decades but the management of treatment-related complications remains challenging. Thus, the introduction of novel drugs requires careful investigation of potential off-target side effects. The developing skeleton is severely affected by the anticancer treatment which may result in growth retardation and short stature. Venetoclax is a selective Bcl-2 inhibitor whic...

Introduction: Thyroid stimulating hormone (TSH) abnormalities are a frequent laboratory test finding, which may hinder thyroid dysfunction. One of the most accurate laboratory methods for testing thyroid function (TFTs) is the radioimmunoassay (RIA) method. RIA is an immunoassay that uses radiolabelled molecules in a stepwise formation of immune complexes. It is a very sensitive in vitro assay technique used to measure concentration...

Background: Hyperprolactinemia can be physiological or due to a pharmacological/pathological cause. It is relatively rare in childhood and poorly described in the literature.Objective and hypotheses: The aim of this study was to retrospectively evaluate the etiology, clinical findings and management of hyperprolactinemia in children.Method: We reviewed the records of 91 children with hyperprolactinemia (Prolactin level >760 mU/...

Objective: We evaluated frequency and risk factors of delayed TSH elevation (dTSH) and investigated follow-up outcomes in the dTSH group with venous TSH (v-TSH) levels of 6–20 mU/L according to whether late preterm infants born at gestational age (GA) 35–36 weeks had risk factors.Methods: The medical records of 810 neonates (414 boys) born at Seoul National University Hospital who had a normal neonatal screenin...