Searchable abstracts of presentations at key conferences in endocrinology

ea0024bc1.1 | (1) | BSPED2010

Investigation of premature adrenarche reveals a high incidence of congenital adrenal hyperplasia (CAH)

Kosta K , Gkourogianni A , Alatzoglou K S , Hindmarsh P C , Dattani M T

Background: Premature pubic hair development, with or without manifestations of androgen production, is a common clinical presentation. Premature adrenarche (PA) needs to be differentially diagnosed from congenital adrenal hyperplasia (CAH) and may be associated with early development of puberty.Aim: To study the characteristics at presentation, endocrine profile and outcome of patients who presented with premature pubic hair development. We studied retr...

ea0057032 | Small stature with osteochondritis: a clinical report of a family with ACAN mutation and review of the literature | BES2018

Small stature with osteochondritis: a clinical report of a family with ACAN mutation and review of the literature

Merckx S , Moortgat S , Mouraux T , Beckers D

Introduction: Thanks to advances in genetics, idiopatic short stature have, more frequently, a molecular diagnosis. Mutations in the ACAN gene are responsible for different forms of syndromic short stature but were also described in association with idiopathic short stature or with joint damage and advanced bone age. Transmission is autosomal dominant. Less than 25 mutations have been described since 2010 and are localized all along the protein. The ACAN gene...