{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T03:29:26Z","timestamp":1747193366432,"version":"3.40.5"},"reference-count":25,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>Disorders of sex development (DSD) affect the development of chromosomal, gonadal and\/or anatomical sex. We analyzed a patient with ambiguous genitalia aiming to correlate the genetic findings with the phenotype. Blood and tissue samples from a male patient with penoscrotal hypospadias were analyzed by immunohistochemistry, karyotyping and FISH. DNA was sequenced for the &lt;i&gt;AR, SRY&lt;\/i&gt; and &lt;i&gt;DHH&lt;\/i&gt; genes, and further 26 loci in different sex chromosomes were analyzed by MLPA. The gonosomal origin was evaluated by simple tandem repeat (STR) analysis and SNP array. Histopathology revealed a streak gonad, a fallopian tube and a rudimentary uterus, positive for placental alkaline phosphatase, cytokeratin-7 and c-kit, and negative for estrogen, androgen and progesterone receptors, alpha-inhibin, alpha-1-fetoprotein, \u03b2-hCG, and oct-4. Karyotyping showed a 45,X\/46,XY mosaicism, yet FISH showed both 46,XX\/46,XY mosaicism (gonad and urethral plate), 46,XX (uterus and tube) and 46,XY karyotypes (rudimentary testicular tissue). DNA sequencing revealed intact sequences in &lt;i&gt;SOX9&lt;\/i&gt;,&lt;i&gt; WNT4&lt;\/i&gt;,&lt;i&gt; NR0B1&lt;\/i&gt;,&lt;i&gt; NR5A1&lt;\/i&gt;,&lt;i&gt; CYP21A2&lt;\/i&gt;,&lt;i&gt; SRY&lt;\/i&gt;,&lt;i&gt; AR&lt;\/i&gt;, and &lt;i&gt;DHH&lt;\/i&gt;. STR analysis showed only one maternal allele for all X chromosome markers (uniparental isodisomy, UPD), with a weaker &lt;i&gt;SRY&lt;\/i&gt; signal and a 4:1 ratio in the X:Y signal. Our findings suggest that the observed complex DSD phenotype is the result of somatic gonosomal mosaicism and UPD despite a normal blood karyotype. The presence of UPD warrants adequate genetic counseling for the family and frequent, lifelong, preventive follow-up controls in the patient.<\/jats:p>","DOI":"10.1159\/000430897","type":"journal-article","created":{"date-parts":[[2015,6,3]],"date-time":"2015-06-03T14:21:46Z","timestamp":1433341306000},"page":"136-143","source":"Crossref","is-referenced-by-count":0,"title":["Uniparental Disomy in Somatic Mosaicism 45,X\/46,XY\/46,XX Associated with Ambiguous Genitalia"],"prefix":"10.1159","volume":"9","author":[{"given":"Alexandre","family":"Serra","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Friederike","family":"Denzer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7490-4983","authenticated-orcid":false,"given":"Olaf","family":"Hiort","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas F.","family":"Barth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doris","family":"Henne-Bruns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gotthold","family":"Barbi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00fcnther","family":"Rettenberger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Wabitsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Walter","family":"Just","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clothilde","family":"Leriche","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2015,6,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1159\/000102693"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.urology.2008.08.428"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2009.22.1.97"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1086\/301796"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3390\/jcm3030809"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.10.816"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2005.18.2.197"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970110813"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230310"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00689.x"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/del480"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10869"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30258"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2002.124321"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.4238\/vol7-4gmr483"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/7.suppl_1.89"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1007\/s002770050543"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1007\/BF00289485"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35476"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1002\/pd.733"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0279-x"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20665"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2009.01.005"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33594"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990507)84:1<12::AID-AJMG3>3.0.CO;2-U"}],"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/430897","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/430897","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/430897","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:08:44Z","timestamp":1745431724000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000430897"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":25,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2015,8,1]]},"published-print":{"date-parts":[[2015,8,6]]}},"URL":"https:\/\/doi.org\/10.1159\/000430897","archive":["Portico"],"relation":{},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"type":"print","value":"1661-5425"},{"type":"electronic","value":"1661-5433"}],"subject":[],"published":{"date-parts":[[2015]]}}}