{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T05:18:05Z","timestamp":1791091085891,"version":"4.1.0"},"reference-count":28,"publisher":"The Endocrine Society","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,6,1]]},"DOI":"10.1210\/jc.2013-1278","type":"journal-article","created":{"date-parts":[[2013,4,16]],"date-time":"2013-04-16T03:03:19Z","timestamp":1366081399000},"page":"2223-2229","source":"Crossref","is-referenced-by-count":27,"title":["Identification of a Novel Androgen Receptor Mutation in a Family With Multiple Components Compatible With the Testicular Dysgenesis Syndrome"],"prefix":"10.1210","volume":"98","author":[{"given":"Grete","family":"Lottrup","sequence":"first","affiliation":[{"name":"Departments of Growth and Reproduction (G.L., A.J., J.E.N., N.J., N.E.S., E.R.-D.M.), DK-2100 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"J\u00f8rgensen","sequence":"additional","affiliation":[{"name":"Departments of Growth and Reproduction (G.L., A.J., J.E.N., N.J., N.E.S., E.R.-D.M.), DK-2100 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John E.","family":"Nielsen","sequence":"additional","affiliation":[{"name":"Departments of Growth and Reproduction (G.L., A.J., J.E.N., N.J., N.E.S., E.R.-D.M.), DK-2100 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niels","family":"J\u00f8rgensen","sequence":"additional","affiliation":[{"name":"Departments of Growth and Reproduction (G.L., A.J., J.E.N., N.J., N.E.S., E.R.-D.M.), DK-2100 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morten","family":"Duno","sequence":"additional","affiliation":[{"name":"Clinical Genetics (M.D.), Rigshospitalet, University Hospital of Copenhagen, DK-2100 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Marie","family":"Vinggaard","sequence":"additional","affiliation":[{"name":"Division of Toxicology and Risk Assessment (A.M.V.), National Food Institute, Technical University of Denmark, DK-2860 S\u00f8borg, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niels E.","family":"Skakkeb\u00e6k","sequence":"additional","affiliation":[{"name":"Departments of Growth and Reproduction (G.L., A.J., J.E.N., N.J., N.E.S., E.R.-D.M.), DK-2100 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Rajpert-De Meyts","sequence":"additional","affiliation":[{"name":"Departments of Growth and Reproduction (G.L., A.J., J.E.N., N.J., N.E.S., E.R.-D.M.), DK-2100 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"key\n\t\t\t\t2019041113390289000_B1","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1002\/humu.20044","article-title":"The androgen receptor gene mutations database (ARDB): 2004 update","volume":"23","author":"Gottlieb","year":"2004","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t2019041113390289000_B2","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/j.beem.2006.11.003","article-title":"Androgen resistance","volume":"20","author":"Hughes","year":"2006","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113390289000_B3","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1093\/humrep\/16.5.972","article-title":"Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects","volume":"16","author":"Skakkebaek","year":"2001","journal-title":"Hum Reprod"},{"key":"key\n\t\t\t\t2019041113390289000_B4","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1016\/j.beem.2007.04.002","article-title":"Environment, testicular dysgenesis and carcinoma in situ testis","volume":"21","author":"Olesen","year":"2007","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113390289000_B5","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1136\/adc.80.4.324","article-title":"Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome","volume":"80","author":"Ahmed","year":"1999","journal-title":"Arch Dis Child"},{"key":"key\n\t\t\t\t2019041113390289000_B6","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1136\/archdischild-2011-300584","article-title":"Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia","volume":"97","author":"Hellmann","year":"2012","journal-title":"Arch Dis Child"},{"key":"key\n\t\t\t\t2019041113390289000_B7","doi-asserted-by":"crossref","first-page":"4696","DOI":"10.1210\/jc.2006-2633","article-title":"Secular decline in male testosterone and sex hormone binding globulin serum levels in Danish population surveys","volume":"92","author":"Andersson","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113390289000_B8","first-page":"3976","article-title":"Serum inhibin B in healthy pubertal and adolescent boys: relation to age, stage of puberty, and follicle-stimulating hormone, luteinizing hormone, testosterone, and estradiol levels","volume":"82","author":"Andersson","year":"1997","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113390289000_B9","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1006\/taap.1998.8598","article-title":"Rapid and sensitive reporter gene assays for detection of antiandrogenic and estrogenic effects of environmental chemicals","volume":"155","author":"Vinggaard","year":"1999","journal-title":"Toxicol Appl Pharmacol"},{"key":"key\n\t\t\t\t2019041113390289000_B10","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1093\/toxsci\/69.2.344","article-title":"Antiandrogenic effects in vitro and in vivo of the fungicide prochloraz","volume":"69","author":"Vinggaard","year":"2002","journal-title":"Toxicol Sci"},{"key":"key\n\t\t\t\t2019041113390289000_B11","first-page":"3836","article-title":"Expression of anti-Mullerian hormone during normal and pathological gonadal development: association with differentiation of Sertoli and granulosa cells","volume":"84","author":"Rajpert-De Meyts","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113390289000_B12","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1007\/s00428-006-0223-4","article-title":"Identity of M2A (D2\u201340) antigen and gp36 (Aggrus, T1A-2, podoplanin) in human developing testis, testicular carcinoma in situ and germ-cell tumours","volume":"449","author":"Sonne","year":"2006","journal-title":"Virchows Arch"},{"key":"key\n\t\t\t\t2019041113390289000_B13","first-page":"263","article-title":"Novel and recurrent mutations in patients with androgen insensitivity syndromes","volume":"63","author":"Ledig","year":"2005","journal-title":"Horm Res"},{"key":"key\n\t\t\t\t2019041113390289000_B14","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1016\/j.mad.2004.08.007","article-title":"Partial androgen insensitivity with phenotypic variation caused by androgen receptor mutations that disrupt activation function 2 and the NH(2)- and carboxyl-terminal interaction","volume":"125","author":"Quigley","year":"2004","journal-title":"Mech Ageing Dev"},{"key":"key\n\t\t\t\t2019041113390289000_B15","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1210\/jcem-59-4-785","article-title":"Morphometry and histology of gonads from twelve children and adolescents with the androgen insensitivity (testicular feminization) syndrome","volume":"59","author":"Muller","year":"1984","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113390289000_B16","first-page":"203","article-title":"Neoplasia associated with anomalous sexual development and abnormal sex chromosomes","volume":"8","author":"Scully","year":"1981","journal-title":"Pediatr Adolesc Endocrinol"},{"key":"key\n\t\t\t\t2019041113390289000_B17","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1111\/j.1742-7843.2007.00197.x","article-title":"Testicular dysgenesis syndrome and Leydig cell function","volume":"102","author":"Joensen","year":"2008","journal-title":"Basic Clin Pharmacol Toxicol"},{"key":"key\n\t\t\t\t2019041113390289000_B18","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1002\/path.1372","article-title":"Histological evidence of testicular dysgenesis in contralateral biopsies from 218 patients with testicular germ cell cancer","volume":"200","author":"Hoei-Hansen","year":"2003","journal-title":"J Pathol"},{"key":"key\n\t\t\t\t2019041113390289000_B19","doi-asserted-by":"crossref","first-page":"3467","DOI":"10.1210\/jc.2009-0226","article-title":"Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome","volume":"94","author":"Isidor","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113390289000_B20","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1172\/JCI34241","article-title":"Identification in rats of a programming window for reproductive tract masculinization, disruption of which leads to hypospadias and cryptorchidism","volume":"118","author":"Welsh","year":"2008","journal-title":"J Clin Invest"},{"key":"key\n\t\t\t\t2019041113390289000_B21","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1038\/375581a0","article-title":"Persistent DDT metabolite p,p'-DDE is a potent androgen receptor antagonist","volume":"375","author":"Kelce","year":"1995","journal-title":"Nature"},{"key":"key\n\t\t\t\t2019041113390289000_B22","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1006\/taap.1996.7966","article-title":"Vinclozolin and p,p'-DDE alter androgen-dependent gene expression: in vivo confirmation of an androgen receptor-mediated mechanism","volume":"142","author":"Kelce","year":"1997","journal-title":"Toxicol Appl Pharmacol"},{"key":"key\n\t\t\t\t2019041113390289000_B23","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.jsbmb.2011.04.004","article-title":"Disruption of androgen receptor signaling in males by environmental chemicals","volume":"127","author":"Luccio-Camelo","year":"2011","journal-title":"J Steroid Biochem Mol Biol"},{"key":"key\n\t\t\t\t2019041113390289000_B24","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/j.ejca.2010.08.017","article-title":"Polymorphic variation in the androgen receptor gene: association with risk of testicular germ cell cancer and metastatic disease","volume":"47","author":"V\u00e4stermark","year":"2011","journal-title":"Eur J Cancer"},{"key":"key\n\t\t\t\t2019041113390289000_B25","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1111\/j.1365-2605.2012.01297.x","article-title":"Variations in testosterone pathway genes and susceptibility to testicular cancer in Norwegian men","volume":"35","author":"Kristiansen","year":"2012","journal-title":"Int J Androl"},{"key":"key\n\t\t\t\t2019041113390289000_B26","doi-asserted-by":"crossref","first-page":"4151","DOI":"10.1210\/jcem.86.9.7825","article-title":"Genotype versus phenotype in families with androgen insensitivity syndrome","volume":"86","author":"Boehmer","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113390289000_B27","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1136\/adc.76.6.529","article-title":"Phenotypic diversity in siblings with partial androgen insensitivity syndrome","volume":"76","author":"Evans","year":"1997","journal-title":"Arch Dis Child"},{"key":"key\n\t\t\t\t2019041113390289000_B28","first-page":"3245","article-title":"Phenotypic diversity and testosterone-induced normalization of mutant L712F androgen receptor function in a kindred with androgen insensitivity","volume":"85","author":"Holterhus","year":"2000","journal-title":"J Clin Endocrinol Metab"}],"container-title":["The Journal of Clinical Endocrinology & Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/98\/6\/2223\/10421306\/jcem2223.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,7,12]],"date-time":"2019-07-12T16:08:13Z","timestamp":1562947693000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/98\/6\/2223\/2536902"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,1]]},"references-count":28,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,6,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2013-1278","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,1]]}}}