Investigating the cause of birth defects

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April 3, 2020 - 2:55 PM

Dear Dr. Roach: I’d like information about a rare condition called Mayer-Rokitansky-Kuster-Hauser syndrome. The person I am asking about with this condition was born in 1958 without a uterus or vagina, and has one kidney. Were there any medicines or pills given at this time to pregnant women that could cause this condition? The mother says she does not remember taking anything. Would heavy alcohol consumption cause this? — D.D.

Dr. Keith Roach

Answer: Although I have never seen a case, Mayer-Rokitansky-Kuster-Hauser syndrome, also called Mullerian agenesis, is not as rare a condition as you might suppose. It does have several variants. This condition is often not recognized. The person you are asking about has the less-common atypical form of MRKH, due to the missing kidney.

Researchers originally thought that this condition was caused by maternal exposure to medication or infection. Thalidomide (1954) and diethylstilbestrol (1938) are drugs given around the same time that caused the potential for serious harm to the developing fetus, but the current thinking is that MRKH is a genetic condition. No link between an environmental cause and the condition has been found. MRKH is one of the more common causes of women not getting their first period.

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