Publication:
Persistent Mullerian Duct Syndrome: A Rare But Important Etiology of Inguinal Hernia and Cryptorchidism

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dc.contributor.authorBEREKET, ABDULLAH
dc.contributor.authorsBugrul, Fuat; Abali, Zehra Yavas; Kirkgoz, Tarik; Cerit, Kivilcim K.; Canmemis, Arzu; Turan, Serap; Tugtepe, Halil; Picard, Jean-Yves; Bereket, Abdullah; Guran, Tulay
dc.date.accessioned2022-03-12T22:43:08Z
dc.date.available2022-03-12T22:43:08Z
dc.date.issued2020
dc.description.abstractHomozygous loss of function mutations in genes encoding anti-Mullerian hormone (AMH) or its receptor (AMHRII) lead to persistent Mullerian duct syndrome (PMDS). PMDS is characterized by the presence of a uterus, fallopian tubes, cervix, and upper vagina in fully virilised 46,XY males. Both surgical management and long-term follow-up of these patients are challenging. Four cases with PMDS presented with cryptorchidism and inguinal hernia, and laparoscopic inguinal exploration revealed Mullerian remnants. Three of the patients had homozygous mutations in the AMH gene, one with a novel c.1673G>A (p.Gly558Asp) mutation, and one patient had an AMHRII mutation. All patients underwent a single-stage laparotomy in which the fundus of the uterus was split along the midline to release testes and to avoid damaging the vas deferens or the deferential artery. Biopsy of Mullerian remnants did not reveal any malignancy. The cases presented here expand the clinical and molecular presentation of PMDS. Cryptorchidism and inguinal hernia in the presence of Mullerian structures in an appropriately virilised 46,XY individual should suggest PMDS. Long-term reproductive and endocrinological surveillance is necessary.
dc.identifier.doi10.1159/000510466
dc.identifier.eissn1661-5433
dc.identifier.issn1661-5425
dc.identifier.pubmed32961540
dc.identifier.urihttps://hdl.handle.net/11424/236295
dc.identifier.wosWOS:000583314200006
dc.language.isoeng
dc.publisherKARGER
dc.relation.ispartofSEXUAL DEVELOPMENT
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectAMH
dc.subjectAMHRII
dc.subjectCryptorchidism
dc.subjectInguinal hernia
dc.subjectPersistent M&#252
dc.subjectllerian duct
dc.subjectGENE
dc.subjectMUTATIONS
dc.subjectPATIENT
dc.subjectAMH
dc.titlePersistent Mullerian Duct Syndrome: A Rare But Important Etiology of Inguinal Hernia and Cryptorchidism
dc.typearticle
dspace.entity.typePublication
local.avesis.idda8709e3-eaf4-4674-9cc3-2ce98bc8016b
local.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.journal.numberofpages7
local.journal.quartileQ4
oaire.citation.endPage270
oaire.citation.issue5-6
oaire.citation.startPage264
oaire.citation.titleSEXUAL DEVELOPMENT
oaire.citation.volume13
relation.isAuthorOfPublication669e9474-4e39-453f-a4bc-4ede9cb5abac
relation.isAuthorOfPublication.latestForDiscovery669e9474-4e39-453f-a4bc-4ede9cb5abac

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