Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Mullerian Hormone Receptor Mutation

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dc.contributor.authorKorkmaz, Ozlem
dc.contributor.authorOzen, Samim
dc.contributor.authorOzcan, Nurhan
dc.contributor.authorBayindir, Petek
dc.contributor.authorSen, Sait
dc.contributor.authorOnay, Huseyin
dc.contributor.authorGoksen, Damla
dc.contributor.authorAvanoglu, Ali
dc.contributor.authorÖzkınay, Ferda
dc.contributor.authorDarcan, Sukran
dc.date.accessioned2019-10-27T11:07:36Z
dc.date.available2019-10-27T11:07:36Z
dc.date.issued2017
dc.departmentEge Üniversitesien_US
dc.description.abstractPersistent Mullerian duct syndrome is the result of either anti-Mullerian hormone (AMH) deficiency or AMH receptor resistance. A long tubular structure was palpated during the physical examination of a 13-month-old male patient who had presented with bilateral undescended testes. At physical examination, the testes were not palpable. The patient's karyotype was XY, SRY (+), and his AMH level was 22 ng/mol. Structures suggestive of ovaries, a uterus, and fallopian tubes were observed during the laparoscopic examination of the ectopic testis. AMHR2 gene sequence analysis performed with a preliminary diagnosis of AMH receptor resistance revealed a previously unreported homozygous c.24G > A (p. W8X) mutation. The patient was assessed as a case of AMH receptor resistance. Orchiopexy was performed.en_US
dc.identifier.doi10.4274/jcrpe.4058en_US
dc.identifier.endpage181en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue2en_US
dc.identifier.pmid28094762en_US
dc.identifier.startpage179en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.4058
dc.identifier.urihttps://hdl.handle.net/11454/32053
dc.identifier.volume9en_US
dc.identifier.wosWOS:000406446700015en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectUndescended testisen_US
dc.subjectanti-Mullerian hormone receptor mutationen_US
dc.subjectanti-Mullerian hormone receptor resistanceen_US
dc.titlePersistent Mullerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Mullerian Hormone Receptor Mutationen_US
dc.typeArticleen_US

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