Familial disorders of steroid 17?-hydroxylase deficiency / 中华泌尿外科杂志

ABSTRACT

Objective To study and to improve the understanding of the etiology, diagnosis and treatment of familial congenital adrenal hyperplasia(CAH) due to 17? hydroxylase deficiency. Methods 2 rare cases of 17? hydroxylase deficiency in a family were studied with review of the literature. Results 2 cases were definitely diagnosed,one being male pseudohermaphroditism and the other female hypogonadism.Treatment consisted of replacement doses of glucocorticoid hormones and supplemented by estrogen therapy.The serum potassium became normal and the blood pressure was kept below 150/90 mm Hg. Conclusions 17? hydroxylase dificiency is a kind of hypertensive forms of CAH and is inherited as an autosomal recessive trait,its prevalence being rare.It is associated with hypogonadism or pseudohermaphroditism, hypertension or hypokalemia and with absent/decreased 17 OHCS and 17 KS.Hypoaldosteronism and positive dexamathasone inhibition test are the outstanding features.