ESPE Abstracts

Background: Disorders/Differences of Sex Development (DSD) is diagnosed in approximately one out of 4'500 newborns. Children born with DSD present with a very diverse phenotype and they and their families face considerable challenges, potentially including surgical intervention and gender assignment, as well as associated complications such as infertility and predisposition to gonadal tumors. Due to the lack of knowledge concerning the complete gene and pr...

Background: Differentiation of the gonads in men is closely dependent on Sertoli cells maturation. Differences of sex development (DSD) are caused by variations in this process. The study of the mechanisms underlying these complex conditions is crucial for optimal clinical management and Sertoli cells would be an ideal model for this purpose. However, there are two main obstacles for the study of human Sertoli cells. Firstly, mature human Sertoli cells lose their proliferation...

Background: The process of sexual differentiation is central for reproduction of almost all metazoan. Recently, we identified CBX2.1 a chromatin architecture regulator, as an essential transactivator for human male gonadal development. CBX2 has a second isoform CBX2.2. Since nothing is known about the role of CBX2.2 in human sex development, we took advantage of the p.C132R mutation in CBX2.2 in a 46,XY disorder of sex development (DSD) patient with complete female phenotype a...

Background: Steroidogenic factor 1 (SF-1/NR5A1) plays a crucial role in regulating adrenal development, gonad determination and differentiation, and in the hypothalamic-pituitary control of reproduction and metabolism. In men (46, XY) mutations in SF-1/NR5A1 gene cause a wide phenotypic spectrum that ranges from complete testicular dysgenesis with Müllerian structures and amenorrhea, through individuals with mild clitoromegaly or genital ambiguity, to severe penoscrotal h...

Background: Prader–Willi Syndrome (PWS) is a complex genetic disease; one hallmark of the disease is failure to regulate hunger and metabolism. Hyperphagia and severe obesity contribute significantly to the morbidity and mortality of this disease. Methionine aminopeptidase 2 (MetAP2) inhibition reduces fat biosynthesis and stimulates fat oxidation and lipolysis. Beloranib is a selective and potent MetAP2 inhibitor. In a 4-week phase 2, placebo-controlled, proof-of-concept...

Background: Prader-Willi syndrome (PWS) is a rare and complex genetic disorder characterised in neonates by hypotonia and feeding problems. French birth incidence has never been reported.Objective and hypotheses: To evaluate incidence of PWS at birth in France.Method: Identification of patients with a molecular diagnosis of PWS born between January 1st, 2013 and December 31st, 2013 was obtained by combining va...

In a randomized open-label phase 3 trial in 62 children (1–12 years) with X-linked hypophosphatemia (XLH) (NCT 02915705), switching from conventional therapy (oral phosphate plus active vitamin D) to burosumab, a monoclonal antibody targeting fibroblast growth factor 23, significantly improved serum phosphate concentration, rickets, lower-extremity deformities, growth, mobility, and patient-reported outcomes (PROs) at 64 weeks. Children in Europe, USA, Canada, and Australia wh...

Background/Aim: Diabetes with extra-pancreatic features in children can have a monogenic aetiology. Single gene testing is undertaken when children present with the characteristic clinical features suggestive of the underlying aetiology. We aim to assess the utility of comprehensive genetic testing for all monogenic diabetes genes in children with diabetes and any non-autoimmune extra-pancreatic features from a population with a high rate of consanguinity.<p class="abstext...

Background: For young adults with type 1 diabetes, transition from a paediatric setting to an adult care setting is a vulnerable period with risks for gaps in care. These emerging adults need to develop skills for managing their diabetes yet it is often challenging to cover all anticipatory guidance topics related to type 1 diabetes. In the context of a structured transition clinic, we hypothesized that by leveraging teens’ facility with technology and marketing/design we...

Introduction: Although the safety and effectiveness of recombinant human growth hormone therapy (rhGH) has been reported for several years, the level of consensus on the outcomes that should be reported is unclear. The aim of this systematic review is to study the frequency of reporting of these outcomes in children with GH deficiency (GHD).Methods: A systematic review was performed in Medline, Embase, Cochrane Central R...