{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T16:01:57Z","timestamp":1790352117863,"version":"4.1.0"},"reference-count":25,"publisher":"The Endocrine Society","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2000,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Steroid 5\u03b1-reductase 2 deficiency is an autosomal recessive form of male pseudohermaphroditism caused by mutations in the SRD5A2 gene. In this study, we performed DNA analyses in two unrelated subjects bearing the enzyme deficiency and found differences in the mode of transmission for the disease. The data showed that in both families the fathers were carriers for an E197D mutation, whereas the mothers were carriers for a P212R mutation. Patient 1 was identified as compound heterozygote because he had both alterations (E197D\/P212R). On the contrary, patient 2 was found to be homozygous, but only for the paternal mutation. Because this finding could not be explained on the basis of nonpaternity or a chromosomal abnormality, the presence of uniparental disomy was suggested. The reduction to homozygosity for the E197D mutation, as confirmed by restriction analysis, supported this view. The results of our study give evidence of the first case of 5\u03b1-reductase deficiency resulting from uniparental disomy and also disclose an alternate mechanism whereby this enzymatic disorder can derive from a single parent.<\/jats:p>","DOI":"10.1210\/jcem.85.9.6786","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T17:06:07Z","timestamp":1389200767000},"page":"3147-3150","source":"Crossref","is-referenced-by-count":7,"title":["Uniparental Disomy in Steroid 5\u03b1-Reductase 2 Deficiency"],"prefix":"10.1210","volume":"85","author":[{"given":"Bertha","family":"Cha\u0301vez","sequence":"first","affiliation":[{"name":"Department of Reproductive Biology, Instituto Nacional de la Nutricio\u0301n Salvador Zubira\u0301n (B.C., F.V.), Me\u0301xico D.F., Me\u0301xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangelina","family":"Valdez","sequence":"additional","affiliation":[{"name":"Servicio de Endocrinologi\u0301a, C.M.N. 20 de Noviembre ISSSTE (E.V.), Me\u0301xico D.F., Me\u0301xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felipe","family":"Vilchis","sequence":"additional","affiliation":[{"name":"Department of Reproductive Biology, Instituto Nacional de la Nutricio\u0301n Salvador Zubira\u0301n (B.C., F.V.), Me\u0301xico D.F., Me\u0301xico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"2020071614100963200_R1","first-page":"577","article-title":"Steroid 5\u03b1-reductase 2 deficiency.","volume":"14","author":"Wilson","year":"1993","journal-title":"Endocr Rev"},{"key":"2020071614100963200_R2","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1056\/NEJM197410312911806","article-title":"Familial incomplete male pseudohermaphroditism, type 2: decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias.","volume":"291","author":"Walsh","year":"1974","journal-title":"N Engl J Med"},{"key":"2020071614100963200_R3","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1126\/science.186.4170.1213","article-title":"Steroid 5\u03b1-reductase deficiency in man: an inherited form of male pseudohermaphroditism.","volume":"186","author":"Imperato-McGinley","year":"1974","journal-title":"Science"},{"key":"2020071614100963200_R4","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/354159a0","article-title":"Deletion of steroid 5\u03b1-reductase 2 gene in male pseudohermaphroditism.","volume":"354","author":"Andersson","year":"1991","journal-title":"Nature"},{"key":"2020071614100963200_R5","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1172\/JCI115954","article-title":"Molecular genetics of steroid 5\u03b1-reductase 2 deficiency.","volume":"90","author":"Thigpen","year":"1992","journal-title":"J Clin Invest"},{"key":"2020071614100963200_R6","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1172\/JCI115574","article-title":"Genetic and pharmacological evidence for more than one human steroid 5\u03b1-reductase.","volume":"89","author":"Jenkins","year":"1992","journal-title":"J Clin Invest"},{"key":"2020071614100963200_R7","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1046\/j.1365-2265.1996.673496.x","article-title":"Steroid 5\u03b1-reductase 2 deficiency: virilization in early infancy may be due to partial function of mutant enzyme.","volume":"44","author":"Forti","year":"1996","journal-title":"Clin Endocrinol"},{"key":"2020071614100963200_R8","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1046\/j.1365-2265.2000.00941.x","article-title":"Identification of missense mutations in the SRD5A2 gene from patients with steroid 5\u03b1-reductase 2 deficiency.","volume":"52","author":"Vilchis","year":"2000","journal-title":"Clin Endocrinol"},{"key":"2020071614100963200_R9","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/ajmg.1320060207","article-title":"A new genetic concept: uniparental disomy and its potential effect, isodisomy.","volume":"6","year":"1980","journal-title":"Am J Med Genet"},{"key":"2020071614100963200_R10","doi-asserted-by":"crossref","first-page":"962","DOI":"10.1086\/302074","article-title":"Uniparental disomies in unselected populations.","volume":"63","year":"1998","journal-title":"Am J Hum Genet"},{"key":"2020071614100963200_R11","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/(SICI)1096-8628(19970303)69:1<69::AID-AJMG13>3.0.CO;2-M","article-title":"Molecular analysis of the 5\u03b1-steroid reductase type 2 in a family with deficiency of the enzyme.","volume":"69","author":"Vilchis","year":"1997","journal-title":"Am J Med Genet"},{"key":"2020071614100963200_R12","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1016\/0888-7543(89)90129-8","article-title":"Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.","volume":"5","author":"Orita","year":"1989","journal-title":"Genomics"},{"key":"2020071614100963200_R13","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1046\/j.1365-2265.1997.800904.x","article-title":"Mutations of the 5\u03b1-reductase type 2 gene in eight mexican patients from six different pedigrees with 5\u03b1-reductase-2 deficiency.","volume":"46","author":"Canto","year":"1997","journal-title":"Clin Endocrinol"},{"key":"2020071614100963200_R14","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1111\/j.1399-0004.1997.tb02498.x","article-title":"Codon 89 polymorphism of the human 5\u03b1-steroid reductase type 2 gene.","volume":"51","author":"Vilchis","year":"1997","journal-title":"Clin Genet"},{"key":"2020071614100963200_R15","article-title":"Molecular cloning: a laboratory manual","author":"Sambrook","year":"1989"},{"key":"2020071614100963200_R16","first-page":"137","article-title":"Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE.","volume":"48","author":"Budowle","year":"1991","journal-title":"Am J Hum Genet"},{"key":"2020071614100963200_R17","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/ng0694supp-246","article-title":"The 1993\u20131994 ge\u0301ne\u0301thon human genetic linkage map.","volume":"7","author":"Gyapay","year":"1994","journal-title":"Nat Genet"},{"key":"2020071614100963200_R18","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1146\/annurev.bi.63.070194.000325","article-title":"Steroid 5\u03b1-reductase: two genes, two enzymes.","volume":"63","author":"Russell","year":"1994","journal-title":"Annu Rev Biochem"},{"key":"2020071614100963200_R19"},{"key":"2020071614100963200_R20","first-page":"217","article-title":"Uniparental disomy as a mechanism for human genetic disease.","volume":"42","author":"Spence","year":"1988","journal-title":"Am J Hum Genet"},{"key":"2020071614100963200_R21","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1093\/hmg\/4.suppl_1.1757","article-title":"Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis.","volume":"4","author":"Ledbetter","year":"1995","journal-title":"Hum Mol Genet"},{"key":"2020071614100963200_R22","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1136\/jmg.35.12.1014","article-title":"Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.","volume":"35","author":"Lo\u0301pez-Gutie\u0301rrez","year":"1998","journal-title":"J Med Genet"},{"key":"2020071614100963200_R23","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/ajmg.1320580211","article-title":"Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture.","volume":"58","author":"Harrison","year":"1995","journal-title":"Am J Med Genet"},{"key":"2020071614100963200_R24"},{"key":"2020071614100963200_R25","first-page":"1114","article-title":"Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q).","volume":"59","author":"Bernasconi","year":"1996","journal-title":"Am J Hum Genet"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/85\/9\/3147\/9059781\/jcem3147.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/85\/9\/3147\/9059781\/jcem3147.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,17]],"date-time":"2020-07-17T01:33:04Z","timestamp":1594949584000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/85\/9\/3147\/2660522"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,9,1]]},"references-count":25,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2000,9,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jcem.85.9.6786","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,9,1]]}}}