ISSN 1662-4009 (online)

ey0020.11-15 | Endocrinology | ESPEYB20

11.15. Genotype, mortality, morbidity, and outcomes of 3[beta]-hydroxysteroid dehydrogenase deficiency in Algeria

A Ladjouze , M Donaldson , I Plotton , N Djenane , K Mohammedi , V Tardy-Guidollet , D Mallet , K Boulesnane , Z Bouzerar , Y Morel , F Roucher-Boulez

Brief summary: This study describes the genetic and clinical characteristics of 3βHSD2 deficiency in children seen at a single center in Algeria. It describes clinical outcomes, including the frequency of adrenal rest tumors in this population.3β-hydroxysteroid dehydrogenase 2 deficiency (3βHSD2) is a rare form of congenital adrenal hyperplasia. This mixed longitudinal and cross-sectional study was performed in a single Algerian center bet...