ea0037ep1190 | Clinical Cases–Pituitary/Adrenal | ECE2015
, Eraydin Ayten
, Ozbag Ozcan
, Ozkaya Mesut
Introduction: The term congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. Deficiency of 21-hydroxylase, resulting from mutations or deletions of CYP21A, is the most common form of CAH, accounting for more than 90% of cases.Case report: Two female siblings were referred to endocrine clinic with the complain ...