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Congenital Absence of the Vagina
The Mayer-Rokitansky-Kuster-Hauser Syndrome
- JAMES E. GRIFFIN, M.D.;
- CREIGHTON EDWARDS, M.D., F.A.C.O.G.;
- JAMES D. MADDEN, M.D., F.A.C.O.G.;
- MARY JO HARROD, Ph.D.; and
- JEAN D. WILSON, M.D.
Abstract
We 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, we 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 multifactoral 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.
Article and Author Information
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▸From the Departments of Internal Medicine and Obstetrics and Gynecology, the McDermott Center for Growth and Development and the Cecil and Ida Green Center for Reproductive Biology Sciences, The University of Texas Southwestern Medical School; Dallas, Texas.
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Grant support: by Grant AM03892 from the National Institutes of Health. Doctor James E. Griffin was the recipient of Research Fellowship 5-F22-HD02023 from the National Institutes of Health.
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▸Requests for reprints should be addressed to James E. Griffin, M.D.; Department of Internal Medicine, The University of Texas Southwestern Medical School, 5323 Harry Hines Blvd.; Dallas, TX 75235.
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- Received December 22, 1975.
- Accepted April 14, 1976.
