Multiscale analysis of SRY‐positive 46,XX testicular disorder of sex development: Presentation of nine cases

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buir.contributor.authorOnat, Onur Emre
buir.contributor.authorÖzçelik, Tayfun
dc.citation.issueNumber11en_US
dc.citation.volumeNumber52en_US
dc.contributor.authorAkar, Ö. S.
dc.contributor.authorGüneş, S.
dc.contributor.authorAbur, U.
dc.contributor.authorAltundağ, E.
dc.contributor.authorAşçı, R.
dc.contributor.authorOnat, Onur Emre
dc.contributor.authorÖzçelik, Tayfun
dc.contributor.authorOğur, G.
dc.date.accessioned2021-02-18T06:35:00Z
dc.date.available2021-02-18T06:35:00Z
dc.date.issued2020-06-04
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.description.abstract46,XX testicular disorder of sex development (46,XX TDSD) is a relatively rare condition characterised by the presence of testicular tissue with 46,XX karyotype. The present study aims to reveal the phenotype to genotype correlation in a series of sex‐determining region Y (SRY)‐positive 46,XX TDSD cases. We present the clinical findings, hormone profiles and genetic test results of six patients with SRY‐positive 46,XX TDSD and give the details and follow‐up findings of our three of previously published patients. All patients presented common characteristics such as azoospermia, hypergonadotropic hypogonadism and an SRY gene translocated on the terminal part of the short arm of one of the X chromosomes. Mean ± standard deviation (SD) height of the patients was 164.78 ± 8.0 cm. Five patients had decreased secondary sexual characteristics, and three patients had gynaecomastia with varying degrees. Five of the seven patients revealed a translocation between protein kinase X (PRKX) and inverted protein kinase Y (PRKY) genes, and the remaining two patients showed a translocation between the pseudoautosomal region 1 (PAR1) of X chromosome and the differential region of Y chromosome. X chromosome inactivation (XCI) analysis results demonstrated random and skewed XCI in 5 cases and 1 case, respectively. In brief, we delineate the phenotypic spectrum of patients with SRY‐positive 46,XX TDSD and the underlying mechanisms of Xp;Yp translocations.en_US
dc.embargo.release2021-06-04
dc.identifier.doi10.1111/and.13739en_US
dc.identifier.issn0303-4569
dc.identifier.urihttp://hdl.handle.net/11693/75419
dc.language.isoEnglishen_US
dc.publisherWileyen_US
dc.relation.isversionofhttps://doi.org/10.1111/and.13739en_US
dc.source.titleAndrologiaen_US
dc.subjectArray-CGHen_US
dc.subjectInfertilityen_US
dc.subjectSRY-positive 46en_US
dc.subjectXX maleen_US
dc.subjectX chromosome inactivationen_US
dc.titleMultiscale analysis of SRY‐positive 46,XX testicular disorder of sex development: Presentation of nine casesen_US
dc.typeArticleen_US

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