What is the clinical history in patients with 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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Hypogonadism, gynecomastia, and infertility are common symptoms that lead to the diagnostic evaluation of males for Klinefelter syndrome.

Other symptoms include the following:

  • Tall height with long arms and legs
  • Delayed or incomplete pubertal development
  • Sparse facial, body, and sexual hair
  • Erectile dysfunction
  • Osteoporosis
  • Breast malignancy
  • Speech and language deficits (especially expressive language)
  • Learning disabilities (lower verbal IQ than performance IQ scores)
  • Poor self-esteem (increased incidence of anxiety, depression)
  • Behavioral problems (substance abuse)

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