{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,20]],"date-time":"2025-08-20T13:05:48Z","timestamp":1755695148536},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,1,2]],"date-time":"2013-01-02T00:00:00Z","timestamp":1357084800000},"content-version":"vor","delay-in-days":1147,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Andrology"],"published-print":{"date-parts":[[2009,11,12]]},"abstract":"<jats:p><jats:bold>ABSTRACT: <\/jats:bold> Testicular regression syndrome (MIM273250) is characterized primarily by absence of gonads in a person of XY karyotype. Phenotypes range from complete female external genitalia (primary or \u201ctrue\u201d agonadism) to male phenotype with anorchia (testicular regression). Phenotypic differences depend on the stage of embryo development during which testes degenerate. No conclusive mapping can be concluded for the phenotype. We describe a novel case of primary agonadism with a karyotype of 46,X,der(Y)(pter\u2192q11.23::pter\u2192p11.31 or p11.2:). Transcriptional analysis revealed little expression of <jats:italic>USP9Y<\/jats:italic> and <jats:italic>UTY<\/jats:italic> genes on the Y chromosome in our case, which would explain her phenotypes of agonadism with short stature.<\/jats:p>","DOI":"10.2164\/jandrol.108.006353","type":"journal-article","created":{"date-parts":[[2009,10,21]],"date-time":"2009-10-21T00:57:25Z","timestamp":1256086645000},"page":"650-654","source":"Crossref","is-referenced-by-count":4,"title":["A Case of Agonadism Associated With Y\u2010Chromosome Rearrangement: Cytogenetic and Molecular Studies"],"prefix":"10.1002","volume":"30","author":[{"given":"Ying\u2010Xia","family":"Cui","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi\u2010Chao","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"QI","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin\u2010Yi","family":"Xia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong\u2010Yong","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hai\u2010Feng","family":"Shao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"LI","family":"Jia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bing","family":"Yao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi\u2010Feng","family":"Ge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao\u2010Jun","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu\u2010Feng","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,1,2]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2005.06.034"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2004.11.030"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1193-301"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.8.1161"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31044"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530204"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470807"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/348450a0"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.14310\/horm.2002.11174"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-032230"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.26.3083"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-54"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.046581"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.3.288"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/15.12.2559"},{"key":"e_1_2_3_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(2001)9999:9999<::AID-AJMG1170>3.0.CO;2-A"}],"container-title":["Journal of Andrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.2164%2Fjandrol.108.006353","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.2164\/jandrol.108.006353","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T15:23:19Z","timestamp":1697124199000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.2164\/jandrol.108.006353"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,11,12]]},"references-count":16,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2009,11,12]]}},"alternative-id":["10.2164\/jandrol.108.006353"],"URL":"https:\/\/doi.org\/10.2164\/jandrol.108.006353","archive":["Portico"],"relation":{},"ISSN":["0196-3635","1939-4640"],"issn-type":[{"value":"0196-3635","type":"print"},{"value":"1939-4640","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,11,12]]}}}