hrp0084p3-624 | Adrenals | ESPE2015

Clinical and Genotypic Characterization of Simple Virilising Forms of Congenital Adrenal Hyperplasia

Cardoso Rita , Pacheco Susana , Caetano Joana Serra , Dinis Isabel , Mirante Alice

Background: Congenital adrenal hyperplasia (CAH) is a recessive disease in 90% caused by 21-hidroxilase deficiency. The clinical manifestations are related with the severity of enzyme deficiency and are classified in classical and non classical forms. The classical form is the most severe with genital ambiguity in female newborns and universal virilisation. In 75% there is also aldosterone deficiency with salt wasting.Objective and hypotheses: To describ...