A rare cause of a 46, XY disorders of sex development: Persistent mullerian duct syndrome

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dc.contributor.authorAcar, Sezer
dc.contributor.authorPaketci, Ahu
dc.contributor.authorOnay, Huseyin
dc.contributor.authorDemir, Korcan
dc.contributor.authorAtes, Oguz
dc.contributor.authorBober, Ece
dc.contributor.authorAbaci, Ayhan
dc.date.accessioned2019-10-27T11:19:19Z
dc.date.available2019-10-27T11:19:19Z
dc.date.issued2017
dc.departmentEge Üniversitesien_US
dc.description.abstractPersistent mullerian duct syndrome (PMDS) is a relatively rare form of a 46, XY disorders of sex development and clinically characterized by undescended testes and the presence of mullerian duct derivatives such as a uterus and fallopian tubes in males with normal external genitalia. The disease is frequently caused either by the genetic defect of the anti-mullerian hormone (AMH) or its receptor AMH receptor type 2 (AMHR2) gene. AMHR2 mutations have been reported in 45% of genetically proven cases with PMDS. The most common referral findings are bilateral cryptorchidism or transverse testicular ectopia. The presence of uterus and tubes is usually detected during surgery for cryptorchidism. Herein we have presented a PMDS patient with previously reported homozygous AMHR2 mutation, in whom mullerian structures (uterus and fallopian tubes) were detected during laparoscopic intervention performed with the indication of bilateral undescended testis.en_US
dc.identifier.doi10.5222/buchd.2017.242
dc.identifier.endpage246en_US
dc.identifier.issn2146-2372
dc.identifier.issn1309-9566
dc.identifier.issn2146-2372en_US
dc.identifier.issn1309-9566en_US
dc.identifier.issue3en_US
dc.identifier.startpage242en_US
dc.identifier.urihttps://doi.org/10.5222/buchd.2017.242
dc.identifier.urihttps://hdl.handle.net/11454/32743
dc.identifier.volume7en_US
dc.identifier.wosWOS:000418201400012en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isotren_US
dc.publisherDr Behcet Uz Cocuk Hastaliklari Ve Cerrahisien_US
dc.relation.ispartofIzmir Dr Behcet Uz Cocuk Hastanesi Dergisien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAnti-mullerian hormoneen_US
dc.subjectundescended testisen_US
dc.subjectpersistent mullerian duct syndromeen_US
dc.titleA rare cause of a 46, XY disorders of sex development: Persistent mullerian duct syndromeen_US
dc.typeArticleen_US

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