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Title: [Diagnosis and treatment of 17 alpha-hydroxylase deficiency: a case report and literature review]. Author: Zhang L, Wang Hn, Hong Tp. Journal: Beijing Da Xue Xue Bao Yi Xue Ban; 2008 Apr; 40(2):221-2. PubMed ID: 18458702. Abstract: A 16-year-old "female" patient presented as hypertension, hypokalemia, male pseudohermaphroditism, lowered gonadal steroids and cortisol, elevated adrenocorticotropic hormone and pituitary gonadotropin, and 46 XY karyotype. The patient was diagnosed as 17 alpha-hydroxylase deficiency, a rare case of congenital adrenal hyperplasia. "She" chose to remain female appearance and social gender after negotiation with the parents. Cryptor-chidism of both inguinal canals was surgically removed for preventing canceration. After the surgery, a very small daily dose of dexamethasone (0.187 5 mg at bedtime) was enough to control hypertension and hypokalemia, and the therapy of conjugated estrogens (Premarin) was given to promote the development of female characters. After 6 months of treatment, normotension and normokalemia remained, and pubarche and mammogenesis emerged.[Abstract] [Full Text] [Related] [New Search]