Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, most commonly caused by CYP21A2 mutations, and characterized by disturbed cortisol and androgen synthesis. Clinical manifestations of classical 21-hydroxylase deficiency are virilisation and salt-waisting syndrome in both sexes. Adrenal tumors may appear in untreated CAH patients, but very rarely following adequate long-term therapy.Case report: The 17-years-old male p...