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Klinefelter Syndrome

Reviewed 06/2018
 


BASICS

DESCRIPTION

  • Genetic disorder with one or more extra X chromosomes that affects males

  • Most common karyotype is 47,XXY.

  • Causes cognitive, social, behavioral, and learning difficulties (1)[C]

  • Leads to...

DIAGNOSIS

HISTORY

  • Adolescence: delayed or absent puberty or persistent gynecomastia; learning disabilities, psychosocial problems, psychiatric illness

  • Middle age: erectile dysfunction, infertility, decr...

TREATMENT

GENERAL MEASURES

  • Preventive dental care

  • Calcium and vitamin D supplementation

MEDICATION

First Line

Testosterone therapy 
  • Benefits

    • Develops secondary male sex characteristics

      • Increases body hair and...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Every 3 months then annual metabolic screening: lipid, glucose, and thyroid function (7,9)[C]

  • Annual clinical breast exam ± breast imaging

  • Bone de...

REFERENCES

1
Aksglaede L, Link K, Giwercman A, et al. 47,XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management. Am J Med Genet C Semin Med Genet. &#...

ADDITIONAL READING

  • Radicioni AF, Ferlin A, Balercia G, et al. Consensus statement on diagnosis and clinical management of Klinefelter syndrome. J Endocrinol Invest.  2010;33(11):839–850.

  • Wistuba J...

CODES

ICD10

  • Q98.4 Klinefelter syndrome, unspecified

  • Q98.1 Klinefelter syndrome, male with more than two X chromosomes

  • Q98.0 Klinefelter syndrome karyotype 47, XXY

  • Q98.5 Karyotype 47, XYY

  • Q98.3 Other male w...

CLINICAL PEARLS

  • KS males have ≥1 additional X chromosome (XXY karyotype) with associated features of hypergonadotropic hypogonadism.

  • Accounts for 3% of male infertility

  • Most men do not have “textbook fe...

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