Klinefelter's syndrome

Question 1

What karyotype is associated with this condition?

Answer 1

47, XXY

Question 2

Symptoms?

Answer 2

• often taller than average
• lack of secondary sexual characteristics
• small, firm testes
• infertile
• gynaecomastia - increased incidence of breast cancer

Question 3

Any changes to hormone levels?

Answer 3

Elevated gonadotrophin levels but low testosterone

Question 4

Diagnosis?

Answer 4

Chromosomal analysis (looking at the karyotype)