17-hydroxylase deficiency syndrome

17-hy·drox·y·lase de·fi·cien·cy syn·drome

[MIM*202110] congenital deficiency of adrenocortical and gonadal (that is, testicular and ovarian) steroid C-17α-hydroxylase; the resulting excessive secretion of corticosterone and deoxycorticosterone produces hypertension, and hypokalemic alkalosis while the low lex steroid secretion is associated with ambiguous genitalia in genetics(?) males and sexual infantilism in females. Both sexes fail to enter puberty. One of two rare causes of primary amenorrhea; autosomal recessive inheritance caused by mutation in one of the cytochrome P450 genes (CYP17) on chromosome 10q.

单词	17-hydroxylase deficiency syndrome
释义	17-hydroxylase deficiency syndrome 17-hy·drox·y·lase de·fi·cien·cy syn·drome [MIM202110] congenital deficiency of adrenocortical and gonadal (that is, testicular and ovarian) steroid C-17α-hydroxylase; the resulting excessive secretion of corticosterone and deoxycorticosterone produces hypertension, and hypokalemic alkalosis while the low lex steroid secretion is associated with ambiguous genitalia in genetics(?) males and sexual infantilism in females. Both sexes fail to enter puberty. One of two rare causes of primary amenorrhea; autosomal recessive inheritance caused by mutation in one of the cytochrome P450 genes (CYP17*) on chromosome 10q.
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