ESPE Abstracts

Background: Loss-of-function mutations in the Delta Like Non-Canonical Notch Ligand 1 (DLK1) gene have been identified in patients with central precocious puberty (CPP) and were associated with metabolic and reproductive alterations at adulthood.Objectives: To evaluate the effects of DLK1 loss-of-function mutations on metabolism and other biological process in adult women who had previously CPP in child...

Background: Neuropsychiatric symptoms can be present in patients with central precocious puberty (CPP), with or without abnormalities in brain magnetic resonance imaging (MRI). However, they are especially common in those with CPP-related lesions.Aim: To assess the prevalence of brain lesions detected by MRI in a cohort of children with CPP and to evaluate the occurrence of neuropsychiatric manifestations.<p class="a...

Background: MKRN3 is known to decline prior to pubertal development in healthy individuals, indicating a potential inhibitor effect on reproductive axis. Currently, MKRN3 loss-of-function mutations represent the main genetic cause of familial central precocious puberty (CPP) in both sexes. The impact of these mutations on MKRN3 serum levels is poorly understood.Aim: To assess serum MKRN3 levels in girls with CPP...

Introduction: McCune-Albright Syndrome (MAS) is a rare congenital disorder caused by post-zygotic activating mutations in GNAS gene. Due to the mosaic pattern of this disease, mutation abundance is frequently low in several tissues, including blood cells. The emergence of next-generation sequencing (NGS) methodologies has allowed the analysis of millions of DNA fragments simultaneously and independently, enabling detection of low mutation abundance. Aim: To es...

Background: GNAS activating mutations are the genetic basis of McCune-Albright syndrome (MAS). Peripheral precocious puberty (PPP) due to functional ovarian cysts, with or without MAS features, denotes a potential GNAS -related disorder.Aim: To explore GNAS somatic mutations (p.R201C/H) in peripheral leukocyte DNA using ddPCR in girls with ovarian-origin PPP with or without MAS.<p class="ab...