{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T15:18:02Z","timestamp":1761059882244,"version":"3.44.0"},"reference-count":9,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2015,1,17]]},"abstract":"<jats:p>Disorders of sexual development are conditions where sexual phenotype and genotype are discordant. Genetic sex is determined at conception as the ovum is fertilised by a spermatozoon that contains either an X or Y chromosome. A complex pathway determined by genes and hormones leads to gonadal differentiation into testis or ovary and promotes the development of internal and external genitalia. We present a case of an 18-year-old woman who presented with primary amenorrhoea. She was a virgin, and apart from hirsutism and overweight, had no complaints. Her family history was insignificant. The patient was tall and had underdeveloped breasts. Her blood results showed hypergonadotropic hypogonadism. A 46, XY genotype was detected with karyotype analysis. Ultrasound and MRI demonstrated the presence of a uterus, but no overt gonads. Laparoscopy was performed, with bilateral removal of streak ovaries.<\/jats:p>","DOI":"10.1136\/bcr-2014-206609","type":"journal-article","created":{"date-parts":[[2015,2,9]],"date-time":"2015-02-09T06:28:06Z","timestamp":1423463286000},"page":"bcr2014206609","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis"],"prefix":"10.1136","volume":"2015","author":[{"given":"Dominique","family":"Mannaerts","sequence":"first","affiliation":[{"name":"Department of Obstetrics, Antwerp University Hospital UZA, Edegem, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joke","family":"Muys","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Antwerp University Hospital UZA, Edegem, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bettina","family":"Blaumeiser","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Antwerp University Hospital UZA, Edegem, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Jacquemyn","sequence":"additional","affiliation":[{"name":"Department of Genetics, Antwerp University Hospital UZA, Edegem, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2015,2,9]]},"reference":[{"key":"2025082800460819000_2015.feb09_1.bcr2014206609.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpobgyn.2009.09.009"},{"key":"2025082800460819000_2015.feb09_1.bcr2014206609.2","unstructured":"Schaaf CP , Zschocke J , Potocki L . 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Baltimore, MD: Johns Hopkins University. MIM Number: {400044 }: {12\/06\/2013 }. http:\/\/omim.org\/"},{"key":"2025082800460819000_2015.feb09_1.bcr2014206609.8","unstructured":"Firth H , Hurst J . Oxford Desk Reference\u2014Clinical Genetics. 14 July 2005."},{"key":"2025082800460819000_2015.feb09_1.bcr2014206609.9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1741-4520.2009.00254.x"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2014-206609","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T07:46:14Z","timestamp":1756367174000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2014-206609"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,9]]},"references-count":9,"alternative-id":["10.1136\/bcr-2014-206609"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2014-206609","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2015,2,9]]}}}