title: Incomplete virilization and subclinical mineralocorticoid excess in a boy with partial 17,20-desmolase/17 alpha-hydroxylase deficiency.
abstract: A 17-year-old boy is described with impaired virilization and subclinical mineralocorticoid excess owing to combined 17,20-desmolase/17 alpha-hydroxylase deficiency. His basal plasma progesterone was 20.9 nmol/l (reference value 0.50-1.88), 17-hydroxyprogesterone 21.3 nmol/l (reference value 3.05-4.84), testosterone 6.85 nmol/l (reference value 14.1-22.0), and his excretion of tetrahydro-11-deoxycorticosterone 11.8 mumol/24 h (reference value 1.0-1.5). The differential effects of this combined enzyme deficiency on adrenal and testicular function were studied by ACTH stimulation, dexamethasone suppression, hCG stimulation, and suppression treatment with testosterone.
authors.affiliation: Department of Internal Medicine, University Hospital, Groningen, The Netherlands.
authors.forename: W E
authors.initials: WE
authors.lastname: de Lange
authors.forename: H
authors.initials: H
authors.lastname: Doorenbos
mesh_terms: D000293:Adolescent; D000311:Adrenal Glands / Q000187:drug effects / Q000502:physiology; D000312:Adrenal Hyperplasia, Congenital; D000324:Adrenocorticotropic Hormone / Q000097:blood; D000446:Aldehyde-Lyases / Q000172:deficiency*; D006063:Chorionic Gonadotropin / Q000008:administration & dosage; D003577:Cytochrome P-450 Enzyme System / Q000172:deficiency*; D003907:Dexamethasone; D012734:Disorders of Sex Development / Q000097:blood / Q000201:enzymology* / Q000652:urine; D006065:Gonadotropins, Pituitary / Q000378:metabolism; D006801:Humans; D008297:Male; D008901:Mineralocorticoids / Q000378:metabolism*; D013250:Steroid Hydroxylases / Q000172:deficiency*; D013737:Testis / Q000187:drug effects / Q000502:physiology; D013739:Testosterone / Q000008:administration & dosage
chemical_list: D006063:Chorionic Gonadotropin; D006065:Gonadotropins, Pituitary; D008901:Mineralocorticoids; D013739:Testosterone; D003907:Dexamethasone; D000324:Adrenocorticotropic Hormone; D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; D000446:Aldehyde-Lyases