A 46, XX SRY negative man with infertility, and co-existing with chronic autoimmune thyroiditis

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dc.contributor.authorMustafa O.
dc.contributor.authorMehmet E.
dc.date.accessioned2019-10-27T08:34:52Z
dc.date.available2019-10-27T08:34:52Z
dc.date.issued2010
dc.departmentEge Üniversitesien_US
dc.description.abstract46, XX male (de la Chapelle syndrome) is a rare syndrome with a frequency of 1 in 20,000-25,000 males. 46, XX males exist in different clinical categories with ambiguous genitalia or partially to fully mature male genitalia, in combination with complete or incomplete masculinisation. We herein report a case of SRY-negative XX male with complete masculinisation but with infertility, and co-existing with autoimmune thyroiditis. The patient had fully mature male genitalia with descended but small testes and no signs of undervirilisation. Peripheral blood culture for chromosome studies revealed 46 chromosomes with XX constitution. Repeat polymerase chain reaction analysis, using Y-specific sequence tagged sites analysing about 40 metaphases of genomic DNA, confirmed the absence of the Y chromosome, including any detectable SRY gene. We herein report a case of a man 46, XX male SRY with normal male phenotype and infertility. This case is the first reported case, co-existing with chronic autoimmune thyroiditis. © 2010 Informa UK Ltd.en_US
dc.description.sponsorshipEge Üniversitesi Ministry of Healthen_US
dc.description.sponsorship1Department of Endocrinology and Metabolism Disease, Ministry of Health, Diskapi Y.B. Education and Research Hospital, Ankara, Turkey and 2Department of Endocrinology and Metabolism Disease, Ege University Medical School, Bornova, Izmir, Turkey --en_US
dc.identifier.doi10.3109/09513591003632225en_US
dc.identifier.endpage415en_US
dc.identifier.issn0951-3590
dc.identifier.issue6en_US
dc.identifier.pmid20170343en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage413en_US
dc.identifier.urihttps://doi.org/10.3109/09513591003632225
dc.identifier.urihttps://hdl.handle.net/11454/27124
dc.identifier.volume26en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofGynecological Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subject46en_US
dc.subjectInfertilityen_US
dc.subjectSRY geneen_US
dc.subjectThyroiditisen_US
dc.subjectXX maleen_US
dc.titleA 46, XX SRY negative man with infertility, and co-existing with chronic autoimmune thyroiditisen_US
dc.typeArticleen_US

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