Which patient characteristics are indications for a chromosome analysis in 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 physical findings in patients with Klinefelter syndrome vary. When the following features are present in an undiagnosed male, a chromosome analysis may be indicated:

  • Small testes (only consistent phenotypic feature in 47,XXY males)
  • Gynecomastia
  • Long arms and legs
  • Developmental delay
  • Speech and language deficits
  • Psychosocial difficulties/behavioral concerns
  • Learning disabilities/academic issues
  • Infertility

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