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?
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 (one in 5,000 births). 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.
Although the condition affects only females, there might be an analogous disease in men, which causes low sperm counts and kidney abnormalities.
I hope learning more about this condition relieves any potential guilt that may have been lingering for over 60 years.
You can read more about it, including links to support groups, at tinyurl.com/MRKHsyndrome.
Dr. Roach regrets that he is unable to answer individual letters, but will incorporate them in the column whenever possible. Readers can email questions to ToYourGoodHealth@med.cornell.edu