Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome: A historical perspective

Patnaik, Sourav S; Brazile, Bryn; Dandolu, Vani; Patnaik, Sourav S.; Liao, Jun

doi:10.1016/j.gene.2014.09.045

Cited by 43 publications

(39 citation statements)

References 94 publications

(124 reference statements)

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“…Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome (OMIM 277000) affects the female reproductive tract of approximately 1 in 4500 females (Londra, Chuong, & Kolp, 2015). It is characterized by vaginal agenesis and uterine abnormalities that range from mild to severe (Griffin, Edwards, Madden, Harrod, & Wilson, 1976;Londra et al, 2015;Patnaik, Brazile, Dandolu, Ryan, & Liao, 2015). Despite these anomalies being congenital, they are usually only discovered at puberty when the patient fails to begin menstruating, ultimately resulting in reproductive complications.…”

Section: Disruptions Of MD Formation In Humansmentioning

confidence: 99%

The cell biology and molecular genetics of Müllerian duct development

Roly

Backhouse

Cutting

et al. 2018

WIREs Developmental Biology

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The Müllerian ducts are part of the embryonic urogenital system. They give rise to mature structures that serve a critical function in the transport and development of the oocyte and/or embryo. In most vertebrates, both sexes initially develop Müllerian ducts during embryogenesis, but they regress in males under the influence of testis-derived Anti-Müllerian Hormone (AMH). A number of regulatory factors have been shown to be essential for proper duct development, including Bmp and Wnt signaling molecules, together with homeodomain transcription factors such as PAX2 and LIM1. Later in development, the fate of the ducts diverges between males and females and is regulated by AMH and Wnt signaling molecules (duct regression in males) and Hox genes (duct patterning in females). Most of the genes and molecular pathways known to be involved in Müllerian duct development have been elucidated through animal models, namely, the mouse and chicken. In addition, genetic analysis of humans with reproductive tract disorders has further defined molecular mechanisms of duct formation and differentiation. However, despite our current understanding of Müllerian duct development, some questions remain to be answered at the molecular genetic level. This article is categorized under: Early Embryonic Development > Development to the Basic Body Plan.

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Section: Disruptions Of MD Formation In Humansmentioning

confidence: 99%

The cell biology and molecular genetics of Müllerian duct development

Roly

Backhouse

Cutting

et al. 2018

WIREs Developmental Biology

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“…MRKH syndrome may have associated abnormalities such as renal agenesis, skeletal abnormalities, hearing loss, or cardiac defects. [89] In our case, the right renal agenesis was the associated finding of MRKH syndrome with alopecia which is not observed in all the previous four case reports under review.…”

Section: Discussionmentioning

confidence: 41%

Mayer-Rokitansky-Küster-Hauser syndrome with alopecia: A rare case report with review of literature

Choudhary

Choudhari

2016

Int J Trichol

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A 17-year-old girl presented with alopecia involving lateral margins of the scalp with primary amenorrhea. There was no history of parental consanguinity, and no other siblings were having similar complaints. Her secondary sexual characters were well developed with hypoplastic vagina. Histopathological findings from scalp biopsy showed features of alopecia areata. Ultrasonography of abdomen and pelvis revealed the absence of uterus and the right kidney. Follicle-stimulating hormone, luteinizing hormone, estradiol, testosterone, and thyroid function test was within normal limits. The patient had normal 46, XX Karyotype. Till date, only four case reports of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with alopecia has been reported. We are reporting the first case of MRKH syndrome with alopecia with normal gonadal function in world's literature.

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“…During post-mortem examination, each body presented with an underdeveloped uterus as well as a stunted vaginal canal. Each examination also confirmed the presence of limb, cardiac, and/or renal abnormalities, but at the time no connection was made between them (Patnaik et. al., 2014).…”

Section: Discovery Of Mrkhmentioning

confidence: 99%

Mayer-Rokitansky-Kuster-Hauser Syndrome

2020

Definitions

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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.

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Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome: A historical perspective

Cited by 43 publications

References 94 publications

The cell biology and molecular genetics of Müllerian duct development

The cell biology and molecular genetics of Müllerian duct development

Mayer-Rokitansky-Küster-Hauser syndrome with alopecia: A rare case report with review of literature

Mayer-Rokitansky-Kuster-Hauser Syndrome

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