Two Cousins with 17-Alpha Hydroxylase Deficiency - Case Report

摘要

We present two cases of 17-alpha hydroxylase deficiency (17OHD), a rare cause of congenital adrenal hyperplasia (1%); our patients are first cousins (their fathers are brothers). Genetically female patients with congenital adrenal hyperplasia due to 17OHD represent with sexual infantilism, hypertension, while genetically male patients represent with male pseudohermaphroditisim and, hypertension at pubertal age. The cousins presented to our Endocrinology and Metabolism Department with primary amenorrhea and hypertension at different times at age of 18 and 22 and their karyotypes were 46, XX and 46, XY, respectively. 17OHD was diagnosed with clinical findings and laboratory investigations. Blood pressure was improved with glucocorticoid therapy and the development of secondary sexual characteristics was enhanced with estrogen therapy.Turk Jem 2010; 14: 73-5