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Last Updated: 8/7/2012  

Klinefelter Syndrome

Diagnosis
  • Consider Klinefelter syndrome in males with delayed onset of puberty or unexplained infertility.

  • Look for evidence of Klinefelter syndrome in men, including small, firm testes, gynecomastia, and eunuchoid body habitus.

  • Use chromosome analysis to confirm the diagnosis of Klinefelter syndrome and check hormone levels to inform management.

Therapy
  • Administer testosterone to manage androgen deficiency in men and pubertal boys with Klinefelter syndrome.

  • In adult men, administer one of the following forms of testosterone:

    • 75 to 100 mg testosterone enanthate or cypionate intramuscularly weekly or 150 to 200 mg biweekly

    • One to two 5-mg nongenital testosterone patches applied nightly over the skin of the back, thigh, or upper arm, away from pressure area

    • 5 to 10 g of testosterone gel applied daily over a covered area of nongenital skin (wash hands after application); in patients with skin reactions to alcohol-containing gels, consider 1% testosterone hydroalcoholic gel, 50 to 100 mg, applied to the skin once daily as an alternative

    • 30-mg bioadhesive buccal testosterone tablet applied to the buccal mucosa every 12 hours

    • Oral testosterone undecanoate, injectable testosterone undecanoate, or testosterone pellets where available

DOI: 10.7326/d385
The information included herein should never be used as a substitute for clinical judgment and does not represent an official position of ACP.
Disclosures:
Melanie A. Manning, MD has no financial relationships with pharmaceutical companies, biomedical device manufacturers, or health-care related organizations. Melanie A. Manning, MD has no financial relationships with pharmaceutical companies, biomedical device manufacturers, or health-care related organizations.
Deborah Korenstein, MD, FACP, Editor in Chief, ACP Smart Medicine, has no relationships with any entity producing, marketing, re-selling, or distributing health care goods or services consumed by, or used on, patients. Richard B. Lynn, MD, FACP, Editor, ACP Smart Medicine, has no relationships with any entity producing, marketing, re-selling, or distributing health care goods or services consumed by, or used on, patients.
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