Mysterious MRKH syndrome genetic

DEAR DR. ROACH: I’d like information about Mayer-Rokitansky-Kuster-Hauser syndrome. The person 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? The mother says she does not remember taking anything. Would heavy alcohol consumption cause this? — D.D.

ANSWER: Although I have never seen Mayer-Rokitansky-Kuster-Hauser syndrome also called Mullerian agenesis, is not as rare as you might suppose (1 in 5,000 births). It has several variants. It 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 fetus, but current thinking is that MRKH is genetic. No link between an environmental cause and the condition has been found. MRKH is a common causes of women not getting their first period.

Although the condition affects only females, there may be an analogous disease in men, which causes low sperm counts and kidney abnormalities.

I hope this relieves any potential guilt that may have been lingering for over 60 years. Read more about it, including links to support groups, at tinyurl.com/MRKHsyndrome.

DEAR DR. ROACH: Will hyaluronic acid injections in the knees increase the risk for stroke in a person with a stroke history? I had strokes about 20 years ago and have been on blood thinning meds (first aspirin, then Aggrenox) since. The suspected stroke cause was vasculitis, although this was never determined.

Recently, I have had severe, semi-debilitating knee pain. After I tried physical therapy and cortisone injections with limited success, the orthopedist has suggested that I try hyaluronic acid injections. Is this safe? Can such injections increase my risk for stroke? If hyaluronic acid would not be appropriate, I would appreciate any other nonsurgical suggestions. — M.H.

ANSWER: The most common cause of knee pain in older adults is osteoarthritis of the knee, and one treatment is injection of hyaluronic acid. The benefit is modest in trials compared with placebo. Side effects from injection include a painful flare-up of pain after injection. This happens perhaps 10 percent of the time. Infection is a serious but rare side effect.

Stroke risk should not be affected by knee injection of any kind. If the treatment is effective, there may be benefit. Regular moderate exercise helps reduce stroke risk and improve function.

If Tylenol or anti-inflammatory drugs, injections or physical therapy, have been no help it maybe consider joint replacement. However, this is not a trivial surgery, and coordination with medical and neurological doctors would be required to ensure as safe a procedure given your history.

(Roach is a columnist for the North American Press Syndicate. Write to him at 628 Virginia Drive, Orlando, FL 32803.)


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