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The biochemical and phenotypic characterization of females homozygous for 5 alpha-reductase-2 deficiency
dc.contributor.author | Katz, M D | |
dc.contributor.author | Cai, L Q | |
dc.contributor.author | Zhu, Y S | |
dc.contributor.author | Herrera, C | |
dc.contributor.author | Defilló-Ricart, M | |
dc.contributor.author | Shackleton, C H | |
dc.contributor.author | Imperato-McGinle, J | |
dc.date.accessioned | 2023-12-03T18:58:00Z | |
dc.date.available | 2023-12-03T18:58:00Z | |
dc.date.issued | 1995-11 | |
dc.identifier.citation | Katz MD, Cai LQ, Zhu YS, Herrera C, DeFillo-Ricart M, Shackleton CH, Imperato-McGinley J. The biochemical and phenotypic characterization of females homozygous for 5 alpha-reductase-2 deficiency. J Clin Endocrinol Metab. 1995 Nov;80(11):3160-7. doi: 10.1210/jcem.80.11.7593420. PMID: 7593420. | en_US |
dc.identifier.uri | https://repositorio.unphu.edu.do/handle/123456789/5393 | |
dc.description.abstract | The biochemical and physiologic manifestations of decreased 5 alpha-dihydrotestosterone (DHT) in females are characterized. Three females from the large Dominican kindred with 5 alpha-reductase-2 deficiency were identified as homozygous for a point mutation (R246W, C-->T) on exon 5 of the 5 alpha-reductase-2 gene by single strand DNA conformational polymorphism analysis and DNA sequence analysis. Body hair was decreased; there was no history of acne. Despite delayed menarche, all were fertile, and two had twins. Urinary 5 beta/5 alpha C19 and C21 steroid metabolite ratios were elevated. Plasma testosterone was normal to elevated, with low DHT, resulting in an increased testosterone/DHT ratio. 3 alpha,5 alpha-Androstanediol glucuronide was low. Menstrual cycle profiling performed in two subjects showed ovulatory gonadotropin peaks. Sebum production was normal. 5 alpha-Reductase-2-deficient homozygotic females demonstrate the importance of DHT in the physiology and pathophysiology of body hair growth. Normal sebum implies regulation by the 5 alpha-reductase-1 isoenzyme. Delayed puberty suggests involvement of 5 alpha-reductase-2 in menarche at the hypothalamic/pituitary and/or ovarian level. As two had nonidentical twins, DHT and/or the DHT/estradiol ratio may regulate follicular development, with lower levels permitting more than one dominant follicle per cycle and higher levels impairing follicular development and ovulation. Thus, females with 5 alpha-reductase-2 deficiency highlight a role for DHT in hirsutism and/or menstrual disorders. | en_US |
dc.language.iso | en | en_US |
dc.publisher | The Journal of Clinical Endocrinology & Metabolism, | en_US |
dc.relation.ispartofseries | Volume 80;Issue 11 | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Dihidrotestosterona | en_US |
dc.subject | República Dominicana | en_US |
dc.title | The biochemical and phenotypic characterization of females homozygous for 5 alpha-reductase-2 deficiency | en_US |
dc.type | Article | en_US |
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