Congenital Absence of Vagina and Uterus

Kvint, Sonja; Wilhelmsson, L.

doi:10.1111/j.1600-0412.1988.tb07817.x

Cited by 4 publications

(1 citation statement)

References 4 publications

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“…However, retrospective analyses of maternal pregnancy histories failed to identify any association between the syndrome and drug use, illness or exposure to known teratogens (Morcel et al, 2007). Several familial occurrences (Griffin et al, 1976;Jones and Mermut, 1972;Kvint and Wilhelmsson, 1988;Tiker et al, 2000) and linked malformations in relatives (Wottgen et al, 2008) suggested that it might be a genetic defect. Because MRKH patients are infertile, linkage analysis cannot be carried out.…”

Section: Discussionmentioning

confidence: 99%

Analysis of WNT9B mutations in Chinese women with Mayer–Rokitansky–Küster–Hauser syndrome

Wang

et al. 2014

Reproductive BioMedicine Online

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Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare congenital female genital anomaly, which is caused by aplasia of the caudalportion of the Müllerian duct. The WNT9B gene encodes a secretory glycoprotein essential for the caudal extension of the Müllerian duct during embryonic development in mice. Coding regions and exon/intron boundaries of the WNT9B gene were amplified and sequenced in 42 Chinese women with MRKH syndrome and 42 controls. Two novel heterozygous mutationswere identified,which were absent in controls. Onewas amissensemutation in exon 1, and the other was located in the 30-untranslated region. Both variants were detected in one out of 42 patients. The two novel mutations may be pathogenic variants in MRKH patients and warrant further functional study.

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Section: Discussionmentioning

confidence: 99%

Analysis of WNT9B mutations in Chinese women with Mayer–Rokitansky–Küster–Hauser syndrome

Wang

et al. 2014

Reproductive BioMedicine Online

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VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: A case of gonosomal mosaicism?

Ørstavik¹,

Steen-Johnsen

Foerster

et al. 1992

Am. J. Med. Genet.

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We report on a female infant with lethal congenital malformations including extreme hydrocephalus due to aqueductal stenosis, vertebral segmentation anomalies, fused costae, anal atresia, renal dysplasia, and bicornuate uterus with a double blind vagina. The VACTERL and the MURCS associations are possible diagnoses. Her father had a neurenteric cyst in infancy. He has identical vertebral and costal malformations as his daughter but is otherwise healthy. The possibility of dominant inheritance with gonosomal mosaicism in the father is discussed.

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Familial occurrence of Mayer–Rokitansky–Küster–Hauser syndrome: A case report and review of the literature

Herlin

Højland

Petersen

2014

American J of Med Genetics Pt A

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Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder of still unknown etiology, characterized by uterovaginal agenesis and can be associated with renal, skeletal and cardiac malformations. Most cases are sporadic. We report on a familial case of two female cousins with MRKH syndrome and unilateral renal agenesis. Family history revealed two cases of renal agenesis in male relatives and ultrasonographic (US) examination of healthy relatives diagnosed an uncle with multiple renal cysts. We have reviewed the literature on familial occurrence of MRKH syndrome and its associated anomalies and collected a total of 67 familial cases. We found familial cases to share the same associated anomalies as sporadic cases and we discuss the necessity of US examination of healthy relatives.

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Congenital Absence of Vagina and Uterus

Abstract: Agenesia of the Müllerian system is a congenital syndrome seldom seen in siblings. This report concerns two sisters with the syndrome. In one of them, the vagina was successfully reconstructed, and the other is awaiting the same operation.

Cited by 4 publications

References 4 publications

Analysis of WNT9B mutations in Chinese women with Mayer–Rokitansky–Küster–Hauser syndrome

Analysis of WNT9B mutations in Chinese women with Mayer–Rokitansky–Küster–Hauser syndrome

VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: A case of gonosomal mosaicism?

Familial occurrence of Mayer–Rokitansky–Küster–Hauser syndrome: A case report and review of the literature

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