{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T06:43:38Z","timestamp":1772261018682,"version":"3.50.1"},"reference-count":11,"publisher":"The Endocrine Society","issue":"2","license":[{"start":{"date-parts":[[2025,2,4]],"date-time":"2025-02-04T00:00:00Z","timestamp":1738627200000},"content-version":"vor","delay-in-days":15,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Disorders of sex development are genetically complex, and phenotypes range from hypospadias to completely masculinized or feminized genitalia with a discordant karyotype. They arise as a result of alterations in gonad formation (sex determination stage) or function (sex differentiation stage). Reaching a specific diagnosis with the aid of molecular technologies is important for individualized management, genetic counseling, and prognostic prediction for fertility and risk of tumor development. This case report describes a young adult male who was referred initially with concern for Klinefelter syndrome based on a commercial genetic test. His laboratory investigations revealed hypergonadotropic hypogonadism, azoospermia, and a chromosomal karyotype of 46,XX. He was eventually diagnosed with 46,XX testicular disorder of sex development. He was initiated on testosterone replacement therapy and offered adoption and use of donor sperm for artificial reproduction techniques.<\/jats:p>","DOI":"10.1210\/jcemcr\/luae237","type":"journal-article","created":{"date-parts":[[2025,2,4]],"date-time":"2025-02-04T08:14:16Z","timestamp":1738656856000},"source":"Crossref","is-referenced-by-count":2,"title":["46,XX Testicular Disorder of Sex Development (DSD) Presenting With Male Hypogonadism"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-1191-0227","authenticated-orcid":false,"given":"Run Ting","family":"Chin","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Department of Medicine, National University Hospital ,","place":["Singapore"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8826-8241","authenticated-orcid":false,"given":"Shao Feng","family":"Mok","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Medicine, National University Hospital ,","place":["Singapore"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2025,2,4]]},"reference":[{"issue":"5","key":"2025020513053553600_luae237-B1","doi-asserted-by":"crossref","first-page":"794","DOI":"10.21037\/tau.2016.08.09","article-title":"Malignancy in disorders of sex development","volume":"5","author":"Kathrins","year":"2016","journal-title":"Transl Androl Urol"},{"issue":"5","key":"2025020513053553600_luae237-B2","doi-asserted-by":"crossref","first-page":"2005.e3","DOI":"10.1016\/j.fertnstert.2008.07.001","article-title":"An XX male with an intratubular undifferentiated germ cell neoplasia","volume":"90","author":"Carcavilla","year":"2008","journal-title":"Fertil Steril"},{"issue":"5","key":"2025020513053553600_luae237-B3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1177\/1557988320970071","article-title":"SRY-positive 46, XX testicular disorder of sexual development with leydig cell tumor","volume":"14","author":"Osaka","year":"2020","journal-title":"Am J Mens Health"},{"issue":"7","key":"2025020513053553600_luae237-B4","doi-asserted-by":"crossref","first-page":"371","DOI":"10.3390\/medicina55070371","article-title":"46,XX testicular disorder of sex development (DSD): a case report and systematic review","volume":"55","author":"Terribile","year":"2019","journal-title":"Medicina (Kaunas)"},{"key":"2025020513053553600_luae237-B5","first-page":"165","article-title":"Disorders of sex development: advances in genetic diagnosis and challenges in management","volume":"5","author":"Kyriakou","year":"2015","journal-title":"Adv Genomics Genet"},{"issue":"4","key":"2025020513053553600_luae237-B6","doi-asserted-by":"crossref","first-page":"R197","DOI":"10.1530\/EJE-18-0256","article-title":"GENETICS IN ENDOCRINOLOGY: approaches to molecular genetic diagnosis in the management of differences\/disorders of sex development (DSD): position paper of EU COST action BM 1303 \u2018DSDnet\u2019","volume":"179","author":"Audi","year":"2018","journal-title":"Eur J Endocrinol"},{"key":"2025020513053553600_luae237-B7","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"D\u00e9lot","year":"2020"},{"issue":"2","key":"2025020513053553600_luae237-B8","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1515\/JPEM.2005.18.2.197","article-title":"Three new 46,XX male patients: a clinical, cytogenetic and molecular analysis","volume":"18","author":"Grigorescu-Sido","year":"2005","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"6","key":"2025020513053553600_luae237-B9","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1016\/S0188-4409(01)00322-8","article-title":"46,XX sex reversal","volume":"32","author":"Zenteno-Ruiz","year":"2001","journal-title":"Arch Med Res"},{"issue":"2","key":"2025020513053553600_luae237-B10","doi-asserted-by":"crossref","first-page":"168","DOI":"10.4103\/1008-682X.181224","article-title":"46 XX karyotype during male fertility evaluation; case series and literature review","volume":"19","author":"Majzoub","year":"2017","journal-title":"Asian J Androl"},{"issue":"1","key":"2025020513053553600_luae237-B11","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1186\/s12301-021-00210-5","article-title":"A rare case of male sex reversal syndrome (46, XX) with negative SRY gene: a disorder of sexual differentiation (DSD)","volume":"27","author":"Abd El Salam","year":"2021","journal-title":"Afr J Urol"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/3\/2\/luae237\/61746072\/luae237.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/3\/2\/luae237\/61746072\/luae237.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,5]],"date-time":"2025-02-05T13:08:52Z","timestamp":1738760932000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luae237\/7997934"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,20]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,1,20]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luae237","relation":{},"ISSN":["2755-1520"],"issn-type":[{"value":"2755-1520","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,2]]},"published":{"date-parts":[[2025,1,20]]},"article-number":"luae237"}}