Klinefelter’s syndrome

Klinefelter’s syndrome is a chromosomal disorder in which men have at least one extra X chromosome. The most common karyotype for Klinefelters is XXY

Characteristics of Klinefelter’s syndrome include:
  • Small testes
  • Gynaecomastia
  • Tall stature
  • Azoospermia
  • Sparse facial and body hair
  • Possibly learning difficulties

Blood tests show
  • Low testosterone
  • High LH/FSH

Around 1 in 500 men are affected, making it the most common disorder of sex chromosomes.

Associations:
  • increased risk of breast cancer
  • endocrine problems - diabetes, hypothyroidism
  • autoimmune conditions - SLE, RA
  • osteoporosis – 25%

Treatment: testosterone replacement therapy


References:

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