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
- Tall stature
- 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.
- increased risk of breast cancer
- endocrine problems - diabetes, hypothyroidism
- autoimmune conditions - SLE, RA
- osteoporosis – 25%
Treatment: testosterone replacement therapy
Radicioni, A. et al. Strategies and advantages of early diagnosis in Klinefelter’s syndrome. Mol Hum Reprod. 2010; 16(6): 434-440.