Stephen J. Schueler, M.D.

Overview Incidence Symptoms Evaluation Treatment Outlook Underlying Cause Genetics

Klinefelter's Syndrome Evaluation

The evaluation of Klinefelter's syndrome begins with a history and physical exam.

Physical findings in an adolescent with Klinefelter's syndrome include:

  • Small penis
  • Small testicles
  • Small amounts of pubic hair
  • Large breasts
  • Long legs
  • Short torso
  • Tall height

Genetic testing is necessary to confirm the diagnosis of Klinefelter's syndrome. This may require a karyotype.

Continue to Klinefelter's Syndrome Treatment

Last Updated: Mar 24, 2009 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Klinefelter's Syndrome References
  1. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Klinefelter's syndrome. Lancet. 2004 Jul 17-23;364(9430):273-83. [15262106]
  2. Temple CM, Sanfilippo PM. Executive skills in Klinefelter's syndrome. Neuropsychologia. 2003;41(11):1547-59. [12849773]
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