What is the mortality and morbidity 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

About 40% of concepti with Klinefelter syndrome survive in utero to the postnatal period.

  • In general, the severity of somatic malformations in Klinefelter syndrome is proportional to the number of supernumerary X chromosomes; mental retardation and hypogonadism are more severe in patients with 49,XXXXY than in those with 48,XXXY.

  • The mortality rate is not significantly higher than in healthy individuals.


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