What is the role of genetic counseling in the management of Klinefelter syndrome?

Updated: Mar 23, 2020
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

The etiology of 47,XXY and sex chromosome aneuploidies is due to a chromosomal nondisjunction process. Recurrence risk is not known to be increased above the risk in the general population; hence there is no increased likelihood of a nondisjunctional event reoccurring in a particular family. Physicians and genetic counselors should provide parents with information from unbiased follow-up studies of boys diagnosed with Klinefelter syndrome. Revealing the condition to an affected male is probably best at the time of mid- to late adolescence, when he is old enough to understand his condition.


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