Etiologies of uterine malformations

Jacquinet, Adeline; Millar, Debra; Lehman, Anna

doi:10.1002/ajmg.a.37775

Cited by 51 publications

(46 citation statements)

References 266 publications

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“…In one such example, it has been found that müllerian anomalies coexist in higher rates among monozygotic twins compared with dizygotic twins with a 12-fold increase in risk among first-degree relatives 1 4. Genes that have been implicated in this wide possibility of abnormalities include HNF1B, HOX genes and WNT pathways 1. The extragenital system most strongly associated with müllerian anomalies is the renal system, including urogenital dysplasia and hypoplasia of the urogenital ridge 1–3.…”

Section: Discussionmentioning

confidence: 99%

Müllerian anomaly in a woman with Hirschsprung's disease

Davis

Hoover

Kauffman³

2017

BMJ Case Reports

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Müllerian anomalies are usually isolated or found in association with abnormalities of the renal tract. Rarely, they are encountered with coexisting Ggastrointestinal anomalies. Similarly, Hirschsprung's disease may coexist with additional somatic abnormalities, yet only a single case report has reported a müllerian anomaly coexisting with Hirschsprung's. A 35-year-old woman with long-standing dysmenorrhoea and infertility and history of Hirschsprung's disease and some components of VATER syndrome (vertebral anomalies, anal atresia, tracheoesophageal fistula, renal anomalies) underwent operative laparoscopic exploration for pelvic pain and was found to have an incidental finding of a unilateral segmentally hypoplastic uterine horn (variation of an ASRM (American Society for Reproductive Medicine) type 2C müllerian anomaly). The genetics of müllerian anomalies and Hirschsprung's disease have been extensively studied with certain loci and candidate genes theorised as being causative. An established familial relationship and heritability exists with both syndromes; however, no genetic foci have been found to connect müllerian abnormalities and Hirschsprung's disease.

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Section: Discussionmentioning

confidence: 99%

Müllerian anomaly in a woman with Hirschsprung's disease

Davis

Hoover

Kauffman³

2017

BMJ Case Reports

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“…A longitudinal vaginal septum is associated with 75% of these anomalies and no communication is present between the two endometrial cavities and the two horns [2] [3] [4] [5]. The remaining MDAs include: Class I-vaginal agenesis, Class II-unicornuate, Class IV-bicornuate, Class V-septate, and Class VI-arcuate.…”

Section: Introductionmentioning

confidence: 99%

“…Müllerian ducts give rise to the following structures: fallopian tubes, uterus, the cervix, and the proximal two thirds of the vagina [3]. MDAs are multifactorial, resulting from a spectrum of improper development, fusion, canalization, or reabsorption of the Müllerian ducts between 6 and 20 weeks gestation [3] [4].…”

Section: Introductionmentioning

confidence: 99%

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Unilateral Singleton Pregnancy with Rural Vaginal Delivery in a Woman with Uterus Didelphys

Desrochers¹,

Boudreau²,

Adegbenro³

2017

OJOG

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Background: Uterus didelphys is a Müllerian duct anomaly which is clinically significant because only 45% of UD patients achieve term delivery and have associated increased risk of spontaneous abortion, foetal growth retardation, mal presentation, and a significant caesarean section delivery rate. Case: A 26-year-old Gravida 2 Para 1 Abortion 1 woman with uterus didelphys and associated complete, non-communicating, longitudinal vaginal septum carries a pregnancy to term in her right uterus in rural Canada. She delivers her baby at 41 weeks gestational age via vacuum assisted spontaneous vaginal delivery. Conclusion: This case report supports more recent literature that uterus didelphys should not be considered as an absolute indication for caesarean delivery. A trial of labour is conceivable with obstetrician gynaecologist involvement in more rural centers with a care plan in place.

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“…Syndromes in which hypoplastic/aplastic uterus is part of the clinical presentation. Modified from(38).…”

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confidence: 99%

Genetics of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome

et al. 2016

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Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, also referred to as Müllerian agenesis, is the second most common cause of primary amenorrhea. It is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in otherwise phenotypically normal 46,XX females. MRKH syndrome has an incidence of about 1 in 4,500–5,000 newborn females and it is generally divided into two subtypes: MRKH type 1, in which only the upper vagina, cervix and the uterus are affected, and MRKH type 2, which is associated with additional malformations generally affecting the renal and skeletal systems, and also includes MURCS (MÜllerian Renal Cervical Somite) characterized by cervico‐thoracic defects. MRKH syndrome is mainly sporadic; however, familial cases have been described indicating that, at least in a subset of patients, MRKH may be an inherited disorder. The syndrome appears to demonstrate an autosomal dominant inheritance pattern, with incomplete penetrance and variable expressivity. The etiology of MRKH syndrome is still largely unknown, probably because of its intrinsic heterogeneity. Several candidate causative genes have been investigated, but to date only WNT4 has been associated with MRKH with hyperandrogenism. This review summarizes and discusses the clinical features and details progress to date in understanding the genetics of MRKH syndrome.

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Etiologies of uterine malformations

Cited by 51 publications

References 266 publications

Müllerian anomaly in a woman with Hirschsprung's disease

Müllerian anomaly in a woman with Hirschsprung's disease

Unilateral Singleton Pregnancy with Rural Vaginal Delivery in a Woman with Uterus Didelphys

Genetics of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome

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