Diagnosis and treatment of 17?-hydroxylase deficiency:a case report and literature review / 北京大学学报(医学版)

ABSTRACT

A 16-year-old "female" patient presented as hypertension,hypokalemia,male pseudohermaphroditism,lowered gonadal steroids and cortisol,elevated adre nocorticotropic hormone and pituitary gonadotropin,and 46 XY karyotype.The pat ient was diagnosed as 17?-hydroxylase deficiency,a rare case of congenital ad r enal hyperplasia."She" chose to remain female appearance and social gender af te r negotiation with the parents.Cryptor-chidism of both inguinal canals was surgi cally 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 t o promote the development of female characters.After 6 months of treatment,nor motension and normokalemia remained,and pubarche and mammogenesis emerged.