hrp0086p2-p49 | Adrenal P2 | ESPE2016

Evaluation of the Combination of Anti-androgen and Anti-estrogen Treatment in Classical Congenital Adrenal Hyperplasia in Boys: Retrospective Study of 11 Cases

Lefevre Christine , Weill Jacques , Mazoyer Harmony , Cartigny Maryse

Background: Final height (FH) is reduced in congenital adrenal hyperplasia (CAH), due both to overtreatment by hydrocortisone therapy and to advanced epiphyseal closure linked to hyperandrogenism by Hydrocortisone therapeutic insufficiency.Objective and hypotheses: To evaluate the efficacy and safety of the addition of an androgen receptor competitor and an aromatase inhibitor to reduced hydrocortisone doses.Method...

hrp0098fc8.4 | Adrenals and HPA Axis 2 | ESPE2024

A deep intronic splice variant of CYP11B1 is the most common in Caucasian patients with 11-beta hydroxylase deficiency: functional, clinical and hormonal findings in 36 families

Janot Clément , Mallet Delphine , Brac-De-La-Perrière Aude , Bertherat Jérôme , Brioude Frédéric , Cartault Audrey , Daval-Cote Mélanie , Espiard Stéphanie , Houang Muriel , Lefebvre Hervé , Martinerie Laetitia , Mayer Anne , Mazoyer Harmony , Pienkowski Catherine , Ribault Virginie , Morel Yves , Plotton Ingrid , Roucher-Boulez Florence

Background and Aims: Congenital adrenal hyperplasia (CAH) resulting from 11β-hydroxylase deficiency (11OHD) is a rare autosomal recessive (AR) disorder due to mutations in CYP11B1. Consequences are decreased cortisol secretion, elevated plasma levels of ACTH, and accumulation of steroid precursors causing abnormally high androgen synthesis and hypertension. High levels of 11-desoxycortisol provides diagnosis with certainty. However, in a cohort o...