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… 
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144 Citations
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Familial occurrence of Mayer–Rokitansky–Küster–Hauser syndrome
TLDR
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
TLDR
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
TLDR
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
TLDR
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
TLDR
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].
TLDR
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
TLDR
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
TLDR
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
  • L. Layman
  • Biology, Medicine
    Expert review of endocrinology & metabolism
  • 2014
TLDR
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
TLDR
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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References

SHOWING 1-10 OF 13 REFERENCES
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual…
Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging.
TLDR
It is shown that associated malformations are present in more than a third of cases and new basic guidelines for standard diagnostic classification involving patients with suspected MRKH are presented.
WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report.
TLDR
It appears that at least in this limited casuistic small group of patients, the absence of a uterus and the androgen excess are the pathognomonic signs of WNT4 defects, suggesting that this might be a clinical entity distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome.
A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman.
TLDR
An 18-year-old woman presented with primary amenorrhea and an absence of müllerian-derived structures, unilateral renal agenesis, and clinical signs of androgen excess--a phenotype resembling the Mayer-Rokitansky-Küster-Hauser syndrome and remarkably similar to that of female Wnt4-knockout mice.
Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina)
TLDR
Sequence analysis of coding regions of HOX candidate genes and of PBX1, a likely HOX cofactor during Müllerian duct differentiation and kidney morphogenesis, did not reveal any mutation in patients showing various forms of MRKH syndrome, tends to show that HOX genes are not involved in MRKh syndrome, but does not exclude that other mechanisms leading to HOX dysfunction may account for the syndrome.
DNA sequence variations of the entire anti-Mullerian hormone (AMH) gene promoter and AMH protein expression in patients with the Mayer-Rokitanski-Kuster-Hauser syndrome.
TLDR
AMH promoter sequence variations or the previously proposed SF3a2-AMH fusion co-transcripts cannot be responsible for aberrant AMH expression leading to Mullerian duct degradation and is an important indicator for ovarian function.
The N314D polymorphism of the GALT gene is not associated with congenital absence of the uterus and vagina.
TLDR
A case-control molecular study analysing 32 patients with CAUV for the presence of the N314D allele of the galactose-1-phosphate uridyl transferase (GALT) gene found no association between CAUV and the N 314D polymorphism.
Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study.
TLDR
The data confirm that WNT4 is involved in the regulation of müllerian duct development and ovarian androgen biosynthesis, and may also contribute to human follicle development and/or maintenance.
A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.
TLDR
Functional studies strongly suggest that heterozygous mutations in the HNF-1beta gene are associated with a syndrome characterized by MODY and severe, non-diabetic renal disease and the presence of internal genital malformations in two females suggests that additional clinical features may be associated with H NF-1 beta mutations.
Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina
TLDR
The data suggest that CAUV in females may be the same disorder as CBAVD in males who do not have CFTR mutations, and that the same gene products may be necessary for normal embryologic development of both ductal systems.
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