Congenital absence of the vagina. The Mayer Rokitansky Kuster Hauser syndrome

Jim Griffin III, C. Edwards, J. D. Madden, M. J. Harrod, J. D. Wilson

Research output: Contribution to journalReview article

255 Citations (Scopus)

Abstract

The authors describe 14 patients with congenital absence of the vagina associated with a variable abnormality of the uterus and review the literature. Associated developmental anomalies of the urinary tract and skeleton are common. As a result of the analysis of two affected families, they believe that the disorder may represent the variable manifestation of a single underlying genetic defect that can be expressed alone or in any combination of vertebral, renal, and genital abnormalities. Some affected persons may have lethal manifestations such as absence of both kidneys, and some cases may result from multifactorial causes rather than a single gene defect. Whatever the cause, the defect involves mesodermal development and the mesonephric kidney, the latter resulting in abnormalities in the paramesonephros (uterus and vagina) and in the metanephric kidney. Both nonoperative and surgical treatments are generally successful in repairing the vaginal abnormality.

Original languageEnglish (US)
Pages (from-to)224-236
Number of pages13
JournalAnnals of Internal Medicine
Volume85
Issue number2
StatePublished - Dec 1 1976

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Kidney
Uterus
Inborn Genetic Diseases
Vagina
Urinary Tract
Skeleton
Absence of vagina
Mullerian aplasia
Therapeutics

ASJC Scopus subject areas

  • Internal Medicine

Cite this

Griffin III, J., Edwards, C., Madden, J. D., Harrod, M. J., & Wilson, J. D. (1976). Congenital absence of the vagina. The Mayer Rokitansky Kuster Hauser syndrome. Annals of Internal Medicine, 85(2), 224-236.

Congenital absence of the vagina. The Mayer Rokitansky Kuster Hauser syndrome. / Griffin III, Jim; Edwards, C.; Madden, J. D.; Harrod, M. J.; Wilson, J. D.

In: Annals of Internal Medicine, Vol. 85, No. 2, 01.12.1976, p. 224-236.

Research output: Contribution to journalReview article

Griffin III, J, Edwards, C, Madden, JD, Harrod, MJ & Wilson, JD 1976, 'Congenital absence of the vagina. The Mayer Rokitansky Kuster Hauser syndrome', Annals of Internal Medicine, vol. 85, no. 2, pp. 224-236.
Griffin III, Jim ; Edwards, C. ; Madden, J. D. ; Harrod, M. J. ; Wilson, J. D. / Congenital absence of the vagina. The Mayer Rokitansky Kuster Hauser syndrome. In: Annals of Internal Medicine. 1976 ; Vol. 85, No. 2. pp. 224-236.
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