Abstract Search

hrp0095p1-414 | Adrenals and HPA Axis | ESPE2022

A short intragenic inversion in CYP11B1 gene involved in a 46,XX virilizing congenital adrenal hyperplasia: interest of cross-use of targeted massively parallel and Sanger sequencing.

Janot Clément , Ladjouze Asmahane , Choron Kévin , Teoli Jordan , Plotton Ingrid , Mallet Delphine , Roucher-Boulez Florence

Background: Steroid 11-β hydroxylase deficiency is the second most frequent cause of adrenal hyperplasia (CAH) with autosomal recessive inheritance. Girls have importantly virilized external genitalia at birth, and boys display precocious pseudopuberty. Unlike others enzymatic deficiency involved in CAH, there is no salt wasting during infancy but patients develop hypertension. Because of more than 90% of homologous sequence between CYP11B1 gene ...

0 shares

hrp0095fc10.1 | GH and IGFs | ESPE2022

Growth hormone and childhood-onset craniopharyngioma: When to initiate growth hormone replacement therapy?

Quoc Adrien Nguyen , Kévin Beccaria , BriceñO Laura GonzáLez , Graziella Pinto , Boustani Dinane Samara , Athanasia Stoupa , Jacques Beltrand , Alix Besançon , Caroline Thalassinos , Stéphanie Puget , Thomas Blauwblomme , Claire Alapetite , Stéphanie Bolle , François Doz , Jacques Grill , Christelle Dufour , Franck Bourdeaut , Samuel Abbou , Rousseau Léa Guerrini , Amaury Leruste , Séverine Brabant , Magali Viaud , Nathalie Boddaert , Michel Polak , Dulanjalee Kariyawasam

Objective: Craniopharyngioma is a benign brain tumour with frequent local recurrence after treatment. Growth hormone replacement therapy (GHRT) is prescribed in children with growth hormone deficiency due to childhood-onset craniopharyngioma. The objective was to evaluate whether shorter time delay of GHRT initiation after childhood-onset craniopharyngioma completion therapy increased the risk of recurrence.Design: Our r...

0 shares

ESPE Abstracts

A short intragenic inversion in CYP11B1 gene involved in a 46,XX virilizing congenital adrenal hyperplasia: interest of cross-use of targeted massively parallel and Sanger sequencing.

Growth hormone and childhood-onset craniopharyngioma: When to initiate growth hormone replacement therapy?

BiosciAbstracts