Persistent Link:
http://hdl.handle.net/10150/612432
Title:
Mayer-Rokitansky-Kuster-Hauser Syndrome
Author:
Shy, Hannah Marie
Issue Date:
2016
Publisher:
The University of Arizona.
Rights:
Copyright © is held by the author. Digital access to this material is made possible by the University Libraries, University of Arizona. Further transmission, reproduction or presentation (such as public display or performance) of protected items is prohibited except with permission of the author.
Abstract:
Mayer-Rokitansky-Kuster-Hauser Syndrome is a congenital disorder of the female reproductive tract due to impaired Müllerian duct development. There are three known categorical presentations: isolated, atypical, and MURCS association. Several developmentally significant factors including inappropriate AMH/AMHR interaction, and mutations in the WNT gene family and HOXA7-13 cluster have been studied. There has also been investigation into an autosomal dominant pattern of inheritance in families with multiple cases of the syndrome. Due to the presence of multiple subsets of patients with similar genetic abnormalities, it seems unlikely that a single etiology will be discovered.
Type:
text; Electronic Thesis
Keywords:
MRKH; MUC1 gene; Mullerian duct; uterine aplasia; vaginal aplasia; Molecular & Cellular Biology; HOX genes
Degree Name:
M.S.
Degree Level:
masters
Degree Program:
Graduate College; Molecular & Cellular Biology
Degree Grantor:
University of Arizona
Advisor:
Krieg, Paul A.

Full metadata record

DC FieldValue Language
dc.language.isoen_USen
dc.titleMayer-Rokitansky-Kuster-Hauser Syndromeen_US
dc.creatorShy, Hannah Marieen
dc.contributor.authorShy, Hannah Marieen
dc.date.issued2016-
dc.publisherThe University of Arizona.en
dc.rightsCopyright © is held by the author. Digital access to this material is made possible by the University Libraries, University of Arizona. Further transmission, reproduction or presentation (such as public display or performance) of protected items is prohibited except with permission of the author.en
dc.description.abstractMayer-Rokitansky-Kuster-Hauser Syndrome is a congenital disorder of the female reproductive tract due to impaired Müllerian duct development. There are three known categorical presentations: isolated, atypical, and MURCS association. Several developmentally significant factors including inappropriate AMH/AMHR interaction, and mutations in the WNT gene family and HOXA7-13 cluster have been studied. There has also been investigation into an autosomal dominant pattern of inheritance in families with multiple cases of the syndrome. Due to the presence of multiple subsets of patients with similar genetic abnormalities, it seems unlikely that a single etiology will be discovered.en
dc.typetexten
dc.typeElectronic Thesisen
dc.subjectMRKHen
dc.subjectMUC1 geneen
dc.subjectMullerian ducten
dc.subjectuterine aplasiaen
dc.subjectvaginal aplasiaen
dc.subjectMolecular & Cellular Biologyen
dc.subjectHOX genesen
thesis.degree.nameM.S.en
thesis.degree.levelmastersen
thesis.degree.disciplineGraduate Collegeen
thesis.degree.disciplineMolecular & Cellular Biologyen
thesis.degree.grantorUniversity of Arizonaen
dc.contributor.advisorKrieg, Paul A.en
dc.contributor.committeememberLantz, Robert C.en
dc.contributor.committeememberRunyan, Raymond B.en
dc.contributor.committeememberElliott, David A.en
dc.contributor.committeememberDarnell, Diana K.en
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