{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,7,22]],"date-time":"2023-07-22T04:19:57Z","timestamp":1689999597815},"reference-count":0,"publisher":"Pakistan Medical Association","issue":"8","license":[{"start":{"date-parts":[[2023,7,15]],"date-time":"2023-07-15T00:00:00Z","timestamp":1689379200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pak Med Assoc"],"abstract":"<jats:p>The main factor determining differentiation of bipotential gonads into testes or ovaries is the presence or absence of SRY (sex-determining region on Y chromosome) gene. De la Chapelle syndrome is a chromosomal anomaly with chromosomal makeup of a female (46, XX) and phenotypic presentation of a male. Previously known as XX sex reversal, it is now called 46, XX testicular disorders of sexual development (DSD). Although rare, it presents as a major chromosomal anomaly, with SRY gene crossover proposed as an underlying aetiology in most patients.\nWe report the case of a 25-year-old male who presented with infertility and was diagnosed with De 46, XX testicular DSD. He has a previous history of resected dysembryoplastic neuroepithelial tumour (DNT). The differential diagnosis of 46, XX DSD and possible association\/coincidental finding of DNT have been discussed.\n---Continue<\/jats:p>","DOI":"10.47391\/jpma.6451","type":"journal-article","created":{"date-parts":[[2023,7,17]],"date-time":"2023-07-17T04:44:49Z","timestamp":1689569089000},"page":"1712-1715","source":"Crossref","is-referenced-by-count":0,"title":["A case reported with 46, XX testicular disorders of sexual development and its possible association with dysembryoplastic neuroepithelial tumour"],"prefix":"10.47391","volume":"73","author":[{"given":"Saira","family":"Furqan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Muhammad Waleed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soban","family":"Arif Maan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Sumera Batool","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Naeemul Haque","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"26547","published-online":{"date-parts":[[2023,7,15]]},"container-title":["Journal of the Pakistan Medical Association"],"original-title":[],"link":[{"URL":"https:\/\/ojs.jpma.org.pk\/index.php\/public_html\/article\/download\/6451\/2554","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/ojs.jpma.org.pk\/index.php\/public_html\/article\/download\/6451\/2554","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,21]],"date-time":"2023-07-21T04:46:13Z","timestamp":1689914773000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojs.jpma.org.pk\/index.php\/public_html\/article\/view\/6451"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,15]]},"references-count":0,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2023,7,15]]}},"URL":"https:\/\/doi.org\/10.47391\/jpma.6451","relation":{},"ISSN":["0030-9982"],"issn-type":[{"value":"0030-9982","type":"print"}],"subject":[],"published":{"date-parts":[[2023,7,15]]}}}