{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T23:46:04Z","timestamp":1773272764313,"version":"3.50.1"},"reference-count":38,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,9,12]],"date-time":"2002-09-12T00:00:00Z","timestamp":1031788800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>46,XY gonadal dysgenesis is characterized by abnormal testicular determination. We describe a large kindred in which various disorders of sexual development were observed, ranging from completely female phenotype without ambiguities of the external genitalia (five cases) to men with isolated penile or perineal hypospadias (four cases), including two cases with moderate virilization and one case with ambiguity of the external genitalia. Histologic examination of gonadal tissue was performed on seven subjects. These findings were suggestive of complete gonadal dysgenesis in one patient, partial gonadal dysgenesis in three patients, and mixed gonadal dysgenesis in three patients. Four patients developed gonadal tumors (two gonadoblastoma, two dysgerminoma, and one immature teratoma, i.e., one patient had a dysgerminoma with some areas of gonadoblastoma). All affected subjects had no other congenital anomalies or dysmorphic features. Analysis of families with several affected individuals with 46,XY gonadal dysgenesis implied an X\u2010linked mode of inheritance because of the apparent absence of male\u2010to\u2010male transmission. However, a sex\u2010limited autosomal dominant mode of inheritance affecting only XY individuals could not be ruled out. Analysis of the pedigree we report indicated an autosomal dominant mode of inheritance because of male\u2010to\u2010male transmission. This kindred supports the involvement of at least one autosomal gene in non\u2010syndromic 46,XY gonadal dysgenesis. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10820","type":"journal-article","created":{"date-parts":[[2002,12,11]],"date-time":"2002-12-11T13:56:05Z","timestamp":1039614965000},"page":"37-43","source":"Crossref","is-referenced-by-count":28,"title":["46,XY gonadal dysgenesis: Evidence for autosomal dominant transmission in a large kindred"],"prefix":"10.1002","volume":"116A","author":[{"given":"C\u00e9dric","family":"Le Caignec","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Baron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ken","family":"McElreavey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madeleine","family":"Joubert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Marie","family":"Rival","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran\u00e7oise","family":"Mechinaud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert","family":"David","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,9,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/9629"},{"key":"e_1_2_6_3_1","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1542\/peds.80.2.209","article-title":"Rudimentary testes syndrome revisited","volume":"80","author":"Acquafredda A","year":"1987","journal-title":"Pediatrics"},{"key":"e_1_2_6_4_1","unstructured":"AlleraA HerbstMA GriffinJE WilsonJD SchwelkertHU McPhaulMJ.1996."},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0894-497"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(67)90342-0"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.6.518"},{"key":"e_1_2_6_8_1","first-page":"493","article-title":"Gonadal histology in patients with male pseudohermaphroditism and atypical gonadal dysgenesis: relation to theories of sex differentiation","volume":"40","author":"Bergada C","year":"1962","journal-title":"Acta Endocrinol (Copenh)"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7352285"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90601-A"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040206"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00352360"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197007022830102"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.76.5.1248"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/372525a0"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.567843"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(99)00123-9"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(99)00307-X"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150103"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80474-4"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590114"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01576.x"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.4.264"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520108"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.1.91"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/7.5.409"},{"key":"e_1_2_6_27_1","first-page":"709","article-title":"Syndrome de regression testiculaire familial","volume":"173","author":"Naffah J","year":"1989","journal-title":"Bull Acad Natl Med"},{"key":"e_1_2_6_28_1","first-page":"257","article-title":"Dysg\u00e9n\u00e9sie gonadique avec chromatine XY","volume":"21","author":"Netter A","year":"1960","journal-title":"Ann Endocrinol (Paris)"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00214195"},{"key":"e_1_2_6_30_1","first-page":"A188","article-title":"A gene for human testis determination maps to chromosome 5","volume":"69","author":"Ostrer H","year":"2001","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90194-4"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(80)90023-X"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(01)68102-3"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/346240a0"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990903)86:1<75::AID-AJMG15>3.0.CO;2-J"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196803282781302"},{"key":"e_1_2_6_37_1","unstructured":"SutherlandRW WienerJS HicksJP MarcelliM GonzalcsETJr RothDR LambDJ.1996."},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4648"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460527"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.10820","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.10820","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T20:35:16Z","timestamp":1697229316000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.10820"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,9,12]]},"references-count":38,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,1]]}},"alternative-id":["10.1002\/ajmg.a.10820"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.10820","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,9,12]]}}}