ESPE Abstracts

Introduction: Prader Willi Syndrome (PWS) is a genetic disorder caused by the lack of expression of paternally inherited genes in chromosome 15q11-q13 region. Central adrenal insufficiency (CAI) has been described but its prevalence is unknown.Aim: to assess central adrenal function in a group of prepuberal PWS patients suspected of CAI.Methods: PWS patients with confirmed molecula...

Background: Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. 45,X/46,XY mosaicism results in a large clinical spectrum of DSD including from female patients with Turner’s syndrome to normal appearing males.Objective and hypotheses: The main aim of this study is to review the clinical and gonad histological findings in a cohort of chromosomal DSD patients f...

Background: Aromatase deficiency is a rare autosomal recessive disorder produced by CYP19 gene mutations. 46XX affected patients presented with ambiguous genitalia leading to early identification. Most 46XY affected patients presented normal external genitalia and the condition often remains undiagnosed until late puberty. Information on pubertal development in affected boys is scarce since to the present date only two patients, younger than 4 years of age, without lo...