ESPE Abstracts

Due to the increase in prevalence of childhood obesity, more obese children are referred to the endocrinologist for the hypothalamus-hypophysis-adrenal axis assessment. The circadian rhythm (CR) of cortisol in saliva (SAF) may constitute a non-invasive, first line test to exclude hypercortisolism on obese children.Aim: To evaluate possible disturbances of CR of SAF in obese children with clinical signs of hypercortisolism.<p class="a...

Background: The human growth pattern varies from intrauterine to extrauterine life, with the GH-IGF axis being immature at birth and IGF-I assuming an important role in promoting postnatal growth. The actions of IGF-I are modulated by its interactions with IGFBPs, with this interaction being regulated by pappalysins (PAPP-A, PAPP-A2) and stanniocalcins (STC-1, STC-2), and thus modifying the amount of free IGF-I.Objective:</strong...

Introduction: Age at pubertal onset is a markedly inherited trait. The most common cause of pubertal delay, self-limited pubertal delay, is defined by the absence of secondary sexual characteristics after 13 years in girls and 14 years in boys, with progression before age 18. This study aimed to detect novel candidate genes for self-limited pubertal delay.Methods: Eighty-one patients with confirmed self-limited delayed p...

Body Mass Index (BMI) has a high association with body fat percentage and direct association with a higher degree of comorbidities. Categorizing patients only by the degree of obesity, as has been done over time, restricts the possibility of detecting and giving timely treatment to other aspects. The Edmonton Obesity Staging System for Pediatrics (EOSS-P) has been proposed as a tool to categorize obesity not only by BMI, but also by assessing metabolic complications, functiona...

Introduction: Genetic investigation in patients with short stature allows diagnostic definition and impacts therapeutic decisions, clinical follow-up, and genetic counseling. That said, next-generation sequencing has created a new clinical challenge by allowing the identification of findings unrelated to the complaint that prompted testing. The ACMG published a list of actionable incidental findings that includes genes whose variants should be reported to pati...

Background: Deregulation of oxidative stress and accumulation of reactive oxygen species are metabolic factors that may affect tumor behavior. New recent insights revealed that the inner mitochondrial protein Nicotinamide Nucleotide Transidrogenase (NNT) is essential in the antioxidant defense mechanisms in the adrenal cortex. Studies have shown that long non-coding RNAs (lncRNAs) are important in cancer regulation. Recent studies demonstrated that lncRNA NNT-...

Objective: Determining the cause of early obesity in children is of paramount importance for early and efficient treatment, including novel targeted pharmaceutical treatment options (e.g. MCR4 agonist). Here, we report findings from diagnostic whole exome sequencing of children with obesity, identifying genetic variants both within and outside the leptin-melanocortin pathway associated with obesity. These findings provide valuable insights for informe...

Background: Access to transgender healthcare for adolescents varies largely across Europe (and beyond), depending on the regulations and healthcare system of the country where they live. In some countries, obtaining transgender healthcare can be almost impossible. Specifically, the age at which puberty suppression (PS) and subsequent gender-affirming hormones (GAH) are offered can vary widely. Medical treatment for adolescents with gender incongruence (GI) is ...

Introduction: Comprehensive evaluation of the gonadotropic axis, including pituitary and gonadal assessment, using a diagnostic test with aGnRH (Triptorelin) could be useful in the differential diagnosis between hypogonadotropic hypogonadism (HH) and self-limited delayed puberty (SLDP) or amenorrhea of unknown cause.Objective: To assess the performance of the Triptorelin test for the diagnosis of HH and to compare it wit...

Introduction: In hypoparathyroidism and pseudohypoparathyroidism, impaired parathyroid hormone (PTH) function leads to hypocalcaemia, often presenting in children with acute symptoms such as tetany, seizures, hyperreflexia. High-dose calcium supplementation is usually necessary. However, beyond severe symptoms relief, the primary goal of treatment should be to maintain serum calcium levels in the lower quartile of normal range, in order to prevent nephrocalcin...