Management

Management of KS is a multidisciplinary task which should involve speech therapist, psychologist, endocrinologist, general practitioners and infertility specialists (1).

Treatment options for patients with KS include:

• testosterone treatment
  • should begin around puberty (age 12 years) and the dose should increase with increasing age to maintain appropriate serum concentrations of testosterone, estradiol, FSH, and LH
  • although it does not treat infertility, gynecomastia, and small testes; it helps in normalization of body proportions (muscle bulk and bone structure )or/and development of normal secondary sex characteristics and general improvement in behavior and work performance
  • long term benefits of testosterone may include reduction in the risk of osteoporosis, autoimmune disease, and breast cancer (2)
    
    
• speech therapy
  • important to refer boys to a speech therapist in case of delay in their speech development (1)
  • early therapy is important to boys with 47,XXY to maximize skills in the understanding and production of more complex language (2)
    
    
• physical therapy
  • to avoid affecting the muscle tone, balance, and coordination in boys with hypotonia or delayed gross motor skills (3)
    
    
• occupational therapy
  • recommended in cases of fine motor dyspraxia
  • may also benefit 47,XXY infants with feeding problems or difficulty with latching on or sucking (2)
    
    
• fertility treatment
  • assisted reproduction techniques could be used such as testicular sperm extraction and subsequent intracytoplasmic sperm injection (1)
    
    
• psychological support

Reference:

• (1) Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol. 2007;4(4):192-204.
• (2) Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis. 2006;1:42.
• (3) Verri A et al. Klinefelter's syndrome and psychoneurologic function. Mol Hum Reprod. 2010;16(6):425-33.