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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...

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ESPE Abstracts

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

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