A Novel Mutation of AMHR2 In Two Siblings with Persistent Mullerian Duct Syndrome

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dc.contributor.authorCakir, Aydilek D.
dc.contributor.authorTuran, Hande
dc.contributor.authorOnay, Huseyin
dc.contributor.authorEmir, Haluk
dc.contributor.authorEmre, Senol
dc.contributor.authorComunoglu, Nil
dc.contributor.authorErcan, Oya
dc.contributor.authorEvliyaoglu, Olcay
dc.date.accessioned2019-10-27T11:18:55Z
dc.date.available2019-10-27T11:18:55Z
dc.date.issued2017
dc.departmentEge Üniversitesien_US
dc.description.abstractPersistent mullerian duct syndrome (PMDS) is characterized by the presence of mullerian duct derivatives in otherwise phenotypically normal males. It is caused in approximately 85% of the cases by mutations in the AMH gene or its type II receptor (AMHR2). We report on 2 brothers with normal external genitalia but high serum AMH levels. Sequence analysis of the AMHR2 gene in the 2 siblings revealed a novel homozygous missense mutation in exon 10 (p.V458L, c.1372G>T). PMDS is a rare condition, but it has to be considered in differential diagnosis of cryptorchidism with normal male genitalia. (C) 2018 S. Karger AG, Baselen_US
dc.identifier.doi10.1159/000485882en_US
dc.identifier.endpage292en_US
dc.identifier.issn1661-5425
dc.identifier.issn1661-5433
dc.identifier.issue05.Junen_US
dc.identifier.pmid29332065en_US
dc.identifier.startpage289en_US
dc.identifier.urihttps://doi.org/10.1159/000485882
dc.identifier.urihttps://hdl.handle.net/11454/32653
dc.identifier.volume11en_US
dc.identifier.wosWOS:000424206100010en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofSexual Developmenten_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAMHen_US
dc.subjectAMHR2en_US
dc.subjectCryptorchidismen_US
dc.titleA Novel Mutation of AMHR2 In Two Siblings with Persistent Mullerian Duct Syndromeen_US
dc.typeArticleen_US

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