hrp0084p3-612 | Adrenals | ESPE2015
, Helvacioglu Didem
, Kilinc Suna
Background: We presented 20-year follow-up of two patients with 11β- hydroxylase deficiency, one of them has novel mutation.Case 1: The male patient was diagnosed at the age of 9-months. He presented with penil growth and pubic hair. At diagnosis blood pressure was normal, his hormonal profile was distinctive of 11β-OHD, with elevated serum levels of 11-deoxycortisol (DOC 134 ng/ml, N: 01.18). Hydrocortisone was introduced immediately aft...