Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency

CYP17A1 catalyzes the 17-hydroxylase and 17,20-lyase reactions, regulating the steroid hormones produced by the adrenal glands and gonads. Mutations that compromise all CYP17A1 activities are extremely rare and cause combined 17-hydroxylase/17,20-lyase deficiency. Clinically, combined 17-hydroxylase...

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Veröffentlicht in:	Fertility and sterility 2014-02, Vol.101 (2), p.317-322
Hauptverfasser:	Marsh, Courtney A., M.D., M.P.H, Auchus, Richard J., M.D., Ph.D
Format:	Artikel
Sprache:	eng
Schlagworte:	17-hydroxylase/17,20-lyase 46,XY DSD Adrenal Hyperplasia, Congenital - enzymology Adrenal Hyperplasia, Congenital - genetics androgen Animals Female Fertility - genetics Humans Hypertension infertility Internal Medicine Male mineralocorticoid Obstetrics and Gynecology primary amenorrhea sexual infantilism Steroid 17-alpha-Hydroxylase - genetics Steroid 17-alpha-Hydroxylase - metabolism Syndrome
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