Two cousins with 17-α hydroxylase enzyme deficiency
Müge Özsan, Ersin Akarsu, Sebnem Aktaran & Mustafa Araz
We present two cases because 17OHD is the rare cause of congenital adrenal hyperplasia (1%) and our patients are first cousins (their fathers are brothers). Genetically female patients with congenital adrenal hyperplasia due to 17-α hydroxylase enzyme deficiency (17OHD) represent with sexual infantilism, hypertension and genetically male patients represent with male pseudohermaphroditisim, hypertension at pubertal age. The cousins applied for primer amenorrhea and hypertension to our Endocrinology and Metabolism Department 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 secondary sexual characteristics were developed with estrogen therapy.