{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T01:22:59Z","timestamp":1771464179946,"version":"3.50.1"},"reference-count":20,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"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":[[2007]]},"abstract":"<jats:p>We assessed the predictive value of anatomical findings and karyotype for establishing a diagnostic orientation in patients with disorders of sex development (DSD). We performed a retrospective chart analysis of 228 patients, grouped into 4 categories: 46,XX DSD, non-dysgenetic testicular DSD, dysgenetic testicular DSD and ovotesticular DSD. Degree of virilisation, presence of vagina, presence of palpable gonads, size of gonads and a plain karyotype was available for all cases. 46,XX DSD due to congenital adrenal hyperplasia counted for 59.2% of the cases, non-dysgenetic testicular DSD for 13.6%, dysgenetic testicular DSD for 21.5% and ovotesticular DSD for 5.7%. Excluding congenital adrenal hyperplasia (CAH), a karyotype with at least one 46,XX cell line had a high diagnostic efficiency for ovotesticular DSD. In these patients, anatomical findings were not as useful to predict the gonadal phenotype. The existence of a 45,X cell line predicted with very high efficiency dysgenetic testicular DSD. Genital palpation was only partially helpful to predict the existence of testicular tissue. Non-dysgenetic testicular DSD could be ruled out with high efficiency in patients with an abnormal karyotype. Anatomical findings were helpful in 46,XY patients: palpated masses predicted non-dysgenetic testes with high accuracy. In all cases assessment of gonadal volume was less useful.<\/jats:p>","DOI":"10.1159\/000104772","type":"journal-article","created":{"date-parts":[[2007,8,8]],"date-time":"2007-08-08T15:14:40Z","timestamp":1186586080000},"page":"222-229","source":"Crossref","is-referenced-by-count":16,"title":["Predictive Value of Anatomical Findings and Karyotype Analysis in the Diagnosis of Patients with Disorders of Sexual Development"],"prefix":"10.1159","volume":"1","author":[{"given":"A.J.","family":"Arcari","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Bergad\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.A.","family":"Rey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Gottlieb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2007,9,25]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.85.2.658"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038%2F348448A0"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016%2FS0140-6736%2859%2991893-8"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1159%2F000050012"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1086%2F302017"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136%2Fadc.2006.098319"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038%2F183302a0"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038%2F351117a0"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1542%2Fpeds.2006-0738"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2002-020889"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.mce.2003.09.013"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.96.22.12790"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016%2F0925-6164%2893%2990024-D"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.84.2.627"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.tem.2004.11.004"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1080%2F00224490209552139"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1542%2Fpeds.104.2.304"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1159%2F000094782"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.juro.2006.10.003"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1152%2Fphysrev.00009.2006"}],"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/104772","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/104772","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T02:58:20Z","timestamp":1745463500000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000104772"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007]]},"references-count":20,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2007,8,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000104772","archive":["Portico"],"relation":{},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"value":"1661-5425","type":"print"},{"value":"1661-5433","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007]]}}}