Mayer-Rokitansky-Kuster-Hauser Syndrome

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Author
Shy, Hannah Marie
Issue Date
2016
Keywords
MRKH
MUC1 gene
Mullerian duct
uterine aplasia
vaginal aplasia
Molecular & Cellular Biology
HOX genes
Advisor
Krieg, Paul A.

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Publisher
The University of Arizona.
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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
Degree Name
M.S.
Degree Level
masters
Degree Program
Graduate College
Molecular & Cellular Biology
Degree Grantor
University of Arizona
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