Sunday, 19 September 2010

MRCP revision battle 15.6: Klinefelters

Klinefelters is the commonest sex chromosome disorder, affecting roughly 1 in 1000 men.

Its karyotype is 47 XXY

The key features are:
  • tall stature
  • small testes
  • azoospermia
  • gynaecomastia

 Bloods show:
  • low testosterone
  • high LH/FSH

Treatment is with testosterone

Note there is increased risk of OP and breast cancer.

So on to the penultimate battle of the day, pellegra...