ESPE Abstracts

Context: Higher frequency of atypical gender identity, non-heterosexual fantasies and sexual relationships, and cross-gender role behavior has been reported in females with the more severe salt wasting form of congenital adrenal hyperplasia (CAH). Data on these aspects and quality of life (QOL) among the milder, more prevalent form, the non-classic CAH (NCCAH) is scarce.Objective: To assess gender identity, gender role, ...

Background: ROHHADNET syndrome affects children with normal development until 2–4 years of age.Objective and hypotheses: Aim of this study was to evaluate a possible role of autoimmunity in this disorder. In spite of a suspicion for genetic etiology, disease-associated genetic variations have not been identified. A paraneoplastic/autoimmune etiology has been suggested mainly because of the association with neural crest tumors....

Background and Aim: A substantial proportion of SGA patients have a syndrome underlying their growth restriction. Most SGA cohorts comprise both syndromic (S-SGA) and non-syndromic patients (nonS-SGA) impeding delineation of the recombinant human growth hormone (rhGH) response. We present a detailed characterization of the Belgian SGA cohort and analyze rhGH response based on adult height (AH).Patients & Methods: Cli...

Introduction: Monogenic diabetes has been estimated to be 1 - 6% of all diabetic cases in European countries which are primarily non consanguineous populations, while the incidence in highly consanguineous areas is insufficiently defined. However, the genetic aetiology of monogenic diabetes has been shown to be widely different in areas with prevalent consanguinity compared to areas with lower rates. In this single-centre study, we aimed to evaluate the preval...

Objectives: No validated achondroplasia (ACH)-specific patient reported outcome (PRO) or clinician-reported outcome (ClinRO) measures are available. A detailed review of generic PRO and ClinRO measures was performed to select relevant tools for further evaluation in a qualitative study.Methods: Published literature describing medical challenges and impacts among children with ACH was reviewed to identify important concep...

Background/Aim: 25 to 40% of children with well-controlled X-linked hypophosphatemia (XLH) show linear growth failure, despite optimal conventional treatment (oral phosphate supplementation and active forms of vitamin D) with final height -2 SDS. Recombinant human growth hormone (rhGH) may be an adjuvant treatment of the growth retardation in these patients. Therefore, the main objective of this study was to describe how rhGH treatment improves final heigh...

Background: Pseudohypoparathyroidism type 1A (PHP1A) and PseudoPHP are caused respectively by maternal and paternal mutations involving those GNAS exons that encode the alpha-subunit of the stimulatory G protein (Gsα). Common to different forms of PHP1B is a loss-of-methylation (LOM) at one or several maternal GNAS exons, which likely reduces Gsα expression in certain tissues. In most autosomal dominant PHP1B variants (AD-PHP1B), LOM is restricted t...

Background: Inactivating mutations in the calcium sensing receptor (CASR) may result in disorders of calcium homeostasis manifesting as familial benign hypocalciuric hypercalcemia (FBHH) and neonatal severe hyperparathyroidsm (NSHPT).Objective and hypotheses: We report two cases with NSHPT together with their treatment and long-term follow-up.Method: Two cases were referred with severe hypercalcemia in the neonatal period....

Background: Turners Syndrome (TS) is associated with osteoporosis in later life. ‘BoneXpert’ has enabled the automated assessment of bone age (BA) and Bone Health Index (BHI). Strong correlations between BoneXpert BHI and dual-energy x-ray absorptiometry and peripheral quantitative computed CT measurements are reported. BoneXpert produces a standard deviation score for BHI (BHI-SD) relative to a healthy cohort of children according to BA.Object...

Background: Over 90% children grow normally, and attain final height within their genetic target. Up to 10% of all children do not spontaneously catch-up by the age 3 years, besides some cases of TS are diagnosed late, and others with SGA go undiagnosed and unattended.Objectives & Hypothesis: Early screening of growth patterns in children attending Child Protection Visits (PMI, France) in Dreux district. Our objective was the evaluation of prevalence...