Mostrar el registro sencillo del ítem
The molecular basis of steroid 5α-reductase deficiency in a large dominican kindred
dc.contributor.author | Thigpen, Anice E. | |
dc.contributor.author | Davis, Daphne L | |
dc.contributor.author | Gautier, Teofilo | |
dc.contributor.author | Imperato-Mcginley, Julianne | |
dc.contributor.author | Russell, David W | |
dc.date.accessioned | 2024-08-30T02:07:07Z | |
dc.date.available | 2024-08-30T02:07:07Z | |
dc.date.issued | 1992 | |
dc.identifier.citation | Thigpen AE, Davis DL, Gautier T, Imperato-McGinley J, Russell DW. The molecular basis of steroid 5α-reductase deficiency in a larg dominican kindred. The New England Journal of Medicine 327 (1992): 1216-1219. | en_US |
dc.identifier.issn | 00284793 | |
dc.identifier.uri | https://repositorio.unphu.edu.do/handle/123456789/5860 | |
dc.description.abstract | PSEUDOHERMAPHRODITISM in men is often caused by genetic deficiencies in the production or action of androgens.1 , 2 One form of this condition is a deficiency of steroid 5α-reductase, the enzyme that catalyzes the conversion of testosterone to dihydrotestosterone in androgen-sensitive tissues.3 , 4 Affected persons have 46,XY karyotypes. At birth, they have normal male structures derived from the wolffian duct, but defects in the external genitals ranging from simple hypospadias to a blind vaginal pouch and clitorislike phallus. The most common defect is a urogenital sinus with a blind vaginal pouch.1 2 3 4 During puberty, the affected boys undergo various degrees of virilization.3 Affected females… © 1992, Massachusetts Medical Society. All rights reserved. | en_US |
dc.language.iso | en | en_US |
dc.publisher | New England Journal of Medicine | en_US |
dc.relation.ispartofseries | Volume 327;Issue 17 | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.title | The molecular basis of steroid 5α-reductase deficiency in a large dominican kindred | en_US |
dc.type | Article | en_US |