ESPE Abstracts

Introduction: Mutations in the GH1 promoter are a rare cause of isolated GH deficiency (IGHD). In order to find the molecular cause of short stature due to IGHD, three siblings (2 M) born to consanguineous parents without mutations in the GHRHR and GH1 coding regions were screened for mutations in the GH1 promoter and locus control region. All patients harbored two variants (c.−123T>C and −161C>T) in homozygous state in the GH1 promoter, not found in 100 co...

Background: Previous studies evaluating bone quality and microarchitecture in X-linked hypophosphatemic rickets (XLH) have produced conflicting data.Objective and hypotheses: To evaluate the bone mineral density (BMD) and microarchitecture in 36 XLH patients (13 children and 23 adults) with confirmed PHEX mutations compared to healthy controls.Method: The areal BMD (aBMD) at lumbar spine (L1-L4), femoral neck, total hip an...

Introduction: X-linked hypophosphatemic rickets (XLH) is characterized by a mineralization disorder in the growth plate and cortical and trabecular bones, resulting in bone deformities with anthropometric changes and potential alterations in body composition.Objective: To evaluate the body composition of 12 children and adolescents with XLH compared to healthy controls by anthropometric and densitometry data.<p class...

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...

Pseudohypoparathyroidism (PHP) and related disorders lead to a wide spectrum of abnormal physical characteristics, neurocognitive and endocrine abnormalities. PHP (including all subtypes), pseudoPHP, acrodysostosis and progressive osseous heteroplasia refer to heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, stocky build, subcutaneous ectopic ossifications, as well as laboratory abnormalit...