{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T22:56:04Z","timestamp":1772578564362,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":10014,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1978,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Serially subcultured fibroblast strains from genital (foreskin, labium majus) skin, as a group, have considerably more steroid (testosterone) 5\u03b1\u2010reductase activity than those from nongenital skin. Foreskin strains varied 40\u2010fold and labial strains even more. Labial strains overlapped nongenital strains of either sex more frequently than did prepuce strains. The activity of foreskin strains from two siblings with proven 5\u03b1\u2010reductase deficiency was clearly lower than that of any of 18 control strains. The comparative behavior of the various strain types indicates that labial and nongenital strains should not be used to support a clinical suspicion of male pseudohermaphroditism due to 5\u03b1\u2010reductase deficiency.<\/jats:p><jats:p>The activities of labial strains from patients with complete androgen insensitivity (testicular feminization) \u2013 five with the recptor\u2010negative variety and two with the receptor\u2010positive type \u2013 were as variable as those of control labial strains. The decreased 5\u03b1\u2010reductase activity observed in fresh skin slices of some patients is probably an expression of their functional estrogen\/ androgen imbalance in vivo.<\/jats:p>","DOI":"10.1002\/ajmg.1320010404","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:27:51Z","timestamp":1118510871000},"page":"407-416","source":"Crossref","is-referenced-by-count":30,"title":["5\u03b1\u2010Reductase activity of genital and nongenital skin fibroblasts from patients with 5\u03b1\u2010reductase deficiency, androgen insensitivity, or unknown forms of male pseudohermaphroditism"],"prefix":"10.1002","volume":"1","author":[{"given":"Leonard","family":"Pinsky","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Morris","family":"Kaufman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cipia","family":"Straisfeld","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Zilahi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Conrad St.\u2010G.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.186.4170.1213"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197410312911806"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197410312911805"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(77)90313-8"},{"key":"e_1_2_1_6_2","doi-asserted-by":"crossref","first-page":"3498","DOI":"10.1016\/S0021-9258(19)41542-1","article-title":"Dihydrotestosterone formation in cultured human fibroblasts. Comparison of cells from normal subjects and patients with familial incomplete male pseudohermaphroditism, type 2","volume":"250","author":"Wilson JD","year":"1975","journal-title":"J Biol Chem"},{"key":"e_1_2_1_7_2","series-title":"BD:OAS","first-page":"91","volume-title":"Genetic Forms of Hypogonadism","author":"Imperato\u2010McGinley J","year":"1975"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-38-6-1143"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI108402"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI108478"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.73.3.891"},{"key":"e_1_2_1_12_2","first-page":"164","article-title":"Testosterone 5\u03b1\u2010reduction in the skin of normal subjects and of patients with abnormal sex development","volume":"79","author":"Kuttenn F","year":"1975","journal-title":"Acta Endocrinol (Kbh)"},{"key":"e_1_2_1_13_2","first-page":"197","article-title":"Testicular feminization: an apparent enzyme defect","volume":"167","author":"Karsznia R","year":"1969","journal-title":"Gynaecologia"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-32-5-625"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-29-3-422"},{"key":"e_1_2_1_16_2","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1016\/0002-9378(71)90557-6","article-title":"Metabolic studies in a patient with the testicular feminization syndrome","volume":"110","author":"Castaneda E","year":"1971","journal-title":"Am J Obstet Gynecol"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1677\/joe.0.0490515"},{"key":"e_1_2_1_18_2","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1172\/JCI105994","article-title":"The conversion of testosterone to 5\u03b1\u2010androstan\u201017\u03b2\u2010ol\u2010one (dihydro\u2010testosterone) by skin slices of man","volume":"48","author":"Wilson JD","year":"1969","journal-title":"J Clin Invest"},{"key":"e_1_2_1_19_2","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/0002-9378(71)90753-8","article-title":"The XY female","volume":"109","author":"Dewhurst CJ","year":"1971","journal-title":"Am J Obstet Gynecol"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01614.x"},{"key":"e_1_2_1_21_2","first-page":"1274","article-title":"Male pseudohermaphroditism: Diagnosis in cell culture","volume":"116","author":"Pinsky L","year":"1977","journal-title":"Can Med Assoc J"},{"key":"e_1_2_1_22_2","first-page":"563","article-title":"Gml\u2010gangliosidosis in skin fibroblast culture: Enzymatic differences between types 1 and 2 and observations on a third variant","volume":"26","author":"Pinsky L","year":"1974","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(73)92962-0"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(74)90411-X"},{"key":"e_1_2_1_25_2","doi-asserted-by":"crossref","first-page":"7168","DOI":"10.1016\/S0021-9258(19)40924-1","article-title":"Diminished 5\u03b1\u2010reductase activity in extracts of fibroblasts cultured from patients with familial incomplete pseudohermaphroditism, type 2","volume":"250","author":"Moore RJ","year":"1975","journal-title":"J Biol Chem"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-39-2-395"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(69)90361-1"},{"key":"e_1_2_1_28_2","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0021-9258(19)52451-6","article-title":"Protein determinationj with the Folin phenol reagent","volume":"193","author":"Lowry OH","year":"1951","journal-title":"J Biol Chem"},{"key":"e_1_2_1_29_2","doi-asserted-by":"publisher","DOI":"10.3181\/00379727-91-22245"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(72)80147-5"},{"key":"e_1_2_1_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-4827(75)80033-4"},{"key":"e_1_2_1_32_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01550984"},{"key":"e_1_2_1_33_2","doi-asserted-by":"crossref","first-page":"5895","DOI":"10.1016\/S0021-9258(17)33036-3","article-title":"Steroid 5\u03b1\u2010reductase in cultured human fibroblasts: Biochemical and genetic evidence for two distinct enzyme activities","volume":"251","author":"Moore RJ","year":"1976","journal-title":"J Biol Chem"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320010404","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320010404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T21:52:23Z","timestamp":1699825943000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320010404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,1]]},"references-count":32,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1978,1]]}},"alternative-id":["10.1002\/ajmg.1320010404"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320010404","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1978,1]]}}}