ESPE Abstracts

Context: Premature adrenarche (PA) could pose an increased risk of obesity and metabolic derangements in adolescence and early adulthood. However, little is known about the body composition of children with PA and its association to the development of adverse metabolic outcomes.Aim: To describe the body composition of children with PA and explore the interaction between PA and metabolic syndrome components.<p class="...

Background: We previously reported on the strong predictive value of the muscle-to-fat ratio (MFR) z-score in the development of early-onset metabolic syndrome components in children with overweight/obesity. Data on the role of the balance between muscle and fat in the development of childhood onset nonalcoholic fatty liver disease (NAFLD) are sparse. In the current study we explored the interplay between MFR and surrogate markers of NAFLD in children with ove...

Background: Osteonecrosis (ON) is bone death caused by inadequate blood supply resulting in demineralization and trabecular thinning and, subsequently, mechanical failure. Although the pathophysiology of ON is not fully understood, the use of high-dose glucocorticoid (GC) is one of the triggers. Furthermore, its optimal management remains uncertain. The use of bisphosphonates (BP) for the treatment of ON has been reported, however, data on outcomes are limited...

Introduction: The aim of this study was to investigate the molecular genetic etiology and to determine the relationship between genotype and phenotype with targeted next-generation sequence (NGS)analysis.Method: Patients with a clinical diagnosis of OI were included in the study. Initially, mutations in COL1A1 and COL1A2 genes which are known to be most responsible for OI were investigated. In the second step, a targeted...

Background: MKRN3 gene, encoding Makorin RING-finger protein 3, is a maternally imprinted gene located at a Prader-Willi syndrome region on chromosome 15q11.13. Deleterious mutations of MKRN3 gene are a common cause of paternally inherited central precocious puberty (CPP), being identified in 33-46% of familial cases and in about 5% and 40% of apparently sporadic female and male cases, respectively.Objectives: To evaluate the presence o...

Introduction: The major genetic cause of CPP is the paternally inherited Makorin RING-finger protein 3 (MKRN3) deficiency. Rare patients carry variants in kisspeptin and its receptor and DLK1.Objectives: To identify genetic causes of CPP.Population and methods: MKRN3 Sanger sequencing was performed in 56 unrelated subjects (12 familial non-maternal, 44 sporadic (6 boys)), whole-ge...

Introduction: Children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) require glucocorticoid (GC) therapy to replace cortisol insufficiency and reduce excess adrenal androgens. Supraphysiological GC doses are typically required, predisposing patients to GC-related comorbidities. In Phase 2 studies, participants with CAH who received crinecerfont, a novel oral CRF1 antagonist, experienced reduction of the adrenal a...

Science was formerly an integral part of philosophy, but these two broad disciplines have gradually grown apart and are now typically viewed as completely different endeavors. In this talk, I will argue in favor of a renaissance in the integration of science and philosophy. I will argue first that philosophy can fruitfully contribute to science. I will take the example of stem cells in various contexts (homeostasis, regeneration and regenerative medicine, cancer) to illustrate...

Our understanding of the genomic basis of Differences of Sex Development (DSD) remains incomplete, despite significant research effort and technological development in unravelling the complex network of genes that regulate gonadal development. While use of massively parallel sequencing has resulted in higher rates of identification of pathogenic or likely pathogenic variants, an accurate diagnosis is lacking for many individuals with DSD. Variants in PPP1R12A (protein...

Objective: Elevated serum alkaline phosphatase (ALP) levels in pediatric patients can result from various etiologies, with transient hyperphosphatasemia, bone pathologies, and hepatic diseases being the most common. This study aimed to elucidate the etiological factors responsible for elevated ALP levels and to evaluate the clinical presentations of transient hyperphosphatasemia in these patients.Materials and Methods: T...