46,XX maleness and 46,XX 21-hydroxylase deficiency in dizygotic twins: Association or coincidence?

dc.contributor.authorAtabek, Mehmet Emre
dc.contributor.authorAcar, Hasan
dc.contributor.authorCora, Tulin
dc.contributor.authorPirgon, Ozgur
dc.date.accessioned2020-03-26T17:16:54Z
dc.date.available2020-03-26T17:16:54Z
dc.date.issued2007
dc.departmentSelçuk Üniversitesien_US
dc.description.abstract46,XX maleness is a rare abnormality of gonadal differentiation. We present dizygotic twins, one having ambiguous genitalia due to 21-hydroxylase deficiency, and the other having normal male genitalia with 46,XX maleness. One of the twins was referred to the endocrinology unit at 2 days old because of ambiguous genitalia. The other twin with bilateral undescended testes located in the inguinal canal was diagnosed with 46,XX maleness. The karyotype was 46,XX. Molecular analysis revealed the presence of SRY in the latter twin without Mullerian structures. Association of congenital adrenal hyperplasia (46,XX 21-hydroxylase deficiency) and 46,XX maleness in twins has not been previously reported.en_US
dc.identifier.endpage745en_US
dc.identifier.issn0334-018Xen_US
dc.identifier.issue6en_US
dc.identifier.pmid17663301en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage743en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12395/21159
dc.identifier.volume20en_US
dc.identifier.wosWOS:000247944800014en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherFREUND PUBLISHING HOUSE LTDen_US
dc.relation.ispartofJOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISMen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectXX malenessen_US
dc.subject21-hydroxylase deficiencyen_US
dc.subjecttwinsen_US
dc.title46,XX maleness and 46,XX 21-hydroxylase deficiency in dizygotic twins: Association or coincidence?en_US
dc.typeArticleen_US

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