Mayer–Rokitansky–Kuster–Hauser syndrome: Recent clinical and genetic findings
@article{Sultan2009MayerRokitanskyKusterHauserSR, title={Mayer–Rokitansky–Kuster–Hauser syndrome: Recent clinical and genetic findings}, author={Charles Sultan and Anna Biason-Lauber and Pascal Philibert}, journal={Gynecological Endocrinology}, year={2009}, volume={25}, pages={11 - 8} }
Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome is characterized by Müllerian duct aplasia in an XX individual with female phenotype presenting primary amenorrhea at adolescence. Multiple abnormalities may be associated with the MRKH syndrome. Genetic investigations focused on the genes of anti-Müllerian hormone and its receptor, as well as on Wt1, Pax2, Cftr and Hox genes, have been unproductive. Only the Wnt4 gene has been clearly implicated in MRKH syndrome and found to be associated with…
144 Citations
Familial occurrence of Mayer–Rokitansky–Küster–Hauser syndrome
- MedicineJournal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
- 2016
In this case, a familial occurrence of Mayer–Rokitansky–Küster–Hauser syndrome in sisters and cousins is presented and ‘‘prolonged exposure therapy (PET)’’ is applied for this case.
AML in Mayer-Rokitansky-Küster-Hauser Syndrome
- MedicineAnnals of Hematology & Oncology
- 2019
The first case of MRKHS associated with AML in literature is reported, characterized by congenital hypoplasia of the uterus and the upper part of the vagina.
Mayer-Rokitansky-Kuster-Hauser Syndrome
- Medicine
- 2011
In familial cases, the syndrome appears to be transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity, which suggests that the involvement of either mutations in a major developmental gene or a limited chromosomal imbalance is suggested.
Mayer–Rokitansky–Küster–Hauser syndrome: diagnosis and management
- Medicine
- 2012
In Mayer–Rokitansky–Küster–Hauser syndrome (müllerian agenesis) there is congenital absence of the upper two‐thirds of the vagina and the uterus is absent or rudimentary, and there may be associated abnormalities of the kidneys, skeletal system, heart and auditory system.
Mayer-Rokitansky-Küster-Hauser Syndrome with Scoliosis-A Case Report
- Medicine
- 2020
A case of MRKH syndrome with scoliosis who presented to us with primary amenorrhea is reported, to help establish the best criteria for early diagnosis and treatment options for a comprehensive therapeutic approach to MRKh patients.
[Mayer-Rokitansky-Küster-Hauser syndrome].
- MedicineUgeskrift for laeger
- 2017
This review kaleidoscopically summarizes the current knowledge of the history, genetics, diagnostics, treatment of vaginal agenesis, psychosexual aspects, and fertility options in MRKH syndrome.
The genetics of Mullerian
- Biology, Medicine
- 2014
The molecular basis for the vast majority of MRKH remains unknown, but supportive evidence exists for heterozygous mutations in WNT4, LHX1, and HNF1B.
Familial occurrence of Mayer–Rokitansky–Küster–Hauser syndrome: A case report and review of the literature
- MedicineAmerican journal of medical genetics. Part A
- 2014
Familial cases of MRKH syndrome are found to share the same associated anomalies as sporadic cases and the necessity of US examination of healthy relatives is discussed.
The genetics of Mullerian aplasia
- Biology, MedicineExpert review of endocrinology & metabolism
- 2014
The molecular basis for the vast majority of MRKH remains unknown, but supportive evidence exists for heterozygous mutations in WNT4, LHX1, and HNF1B.
Mayer-Rokitansky-Kuster-Hauser syndrome with gonadohypoplasia:a rare case report
- Medicine
- 2016
This rare syndrome is reported in a 26–year-old female where she had presented with complaints of absence of uterus with the absence of left kidney and didn’t attain menarchy, secondary sexual characters are well developed.
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