A novel mutation of AMHR2 in two siblings with persistent müllerian duct syndrome

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dc.authorid0000-0002-5299-9480en_US
dc.authorid0000-0002-9809-0977en_US
dc.authorid0000-0003-0985-4259en_US
dc.contributor.authorÜnal, Edip
dc.contributor.authorYıldırım, Ruken
dc.contributor.authorTekin, Suat
dc.contributor.authorDemir, Vasfiye
dc.contributor.authorOnay, Hüseyin
dc.contributor.authorHaspolat, Yusuf Kenan
dc.date.accessioned2021-11-30T13:21:53Z
dc.date.available2021-11-30T13:21:53Z
dc.date.issued2018en_US
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
dc.description.abstractPersistent Müllerian Duct syndrome (PMDS) develops due to deficiency of anti-Müllerian hormone (AMH) or insensitivity of target organs to AMH in individuals with 46,XY karyotype. PMDS is characterized by normal male phenotype of external genitals, associated with persistence of Müllerian structures. This report includes the presentation of a 2.5 year old male patient due to bilateral undescended testis. His karyotype was 46,XY. The increase in testosterone following human chorionic gonadotropin stimulation test was normal. The patient was referred to our clinic after uterine, fallopian tube and vaginal remnants were recognized during the orchiopexy surgery. The family reported that the eight year old elder brother of the patient was operated on for right inguinal hernia and left undescended testis at the age of one year. A right transverse testicular ectopia was found in the elder brother. Both cases had normal AMH levels. AMHR2 gene was analyzed and a homozygous NM_020547.3:c.233-1G>A mutation was found that was not identified previously. In conclusion, we determined a novel mutation in the AMHR2 gene that was identified for the first time. This presented with different phenotypes in two siblings.en_US
dc.identifier.citationÜnal, E., Yıldırım, R., Tekin, S., Demir, V., Onay, H., Haspolat, Y. K. ve diğerleri. (2018). A novel mutation of AMHR2 in two siblings with persistent müllerian duct syndrome. Journal of Clinical Research in Pediatric Endocrinology, 10(4), 387-390.en_US
dc.identifier.doi10.4274/jcrpe.0013
dc.identifier.endpage390en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue4en_US
dc.identifier.pmid29687786
dc.identifier.scopus2-s2.0-85057560646
dc.identifier.scopusqualityQ2
dc.identifier.startpage387en_US
dc.identifier.trdizinid308010
dc.identifier.urihttps://pubmed.ncbi.nlm.nih.gov/29687786/
dc.identifier.urihttps://hdl.handle.net/11468/8339
dc.identifier.volume10en_US
dc.identifier.wosWOS:000451667000014
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.indekslendigikaynakTR-Dizin
dc.institutionauthorÜnal, Edip
dc.institutionauthorTekin, Suat
dc.institutionauthorHaspolat, Yusuf Kenan
dc.language.isoenen_US
dc.publisherGalenos Yayınevien_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectUndescended testisen_US
dc.subjectAnti-Müllerian hormoneen_US
dc.subjectPersistent müllerian duct syndromeen_US
dc.titleA novel mutation of AMHR2 in two siblings with persistent müllerian duct syndromeen_US
dc.titleA novel mutation of AMHR2 in two siblings with persistent müllerian duct syndrome
dc.typeArticleen_US

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