Klinefelter Syndrome Flashcards
Who does Klinefelter Syndrome affect?
males
What is Klinefelter Syndrome due to?
An extra X chromosome- 47XXY
When do boys with Klinefelter syndrome first present?
They present normally until puberty
What features develop at puberty that are suggestive of Klinefelter syndrome?
- Taller height
- Wider hips
- Gynaecomastia
- Small, firm testicles
- Reduced libido
- Infertility
- Lack of secondary sexual characteristics
How is Klinefelter Syndrome diagnosed?
Karyotype (chromosomal analysis).
What is the aim of the management of Klinefelter syndrome?
The aim is to help reduce the features of the condition
What is given to help with the symptoms of Klinefelter syndrome?
Testosterone injections
What can be done for cosmetic purposes in Klinefelter Syndrome
Breast reduction surgery
Which multidisciplinary team input would be beneficial for Klinefelter syndrome?
Physiotherapy- strengthen muscles and joints
Speech and language therapy
Occupational therapy
How can infertility be managed in Klinefelter syndrome?
IVF
What is there an increased risk of with Klinefelter syndrome?
- Breast cancer compared with other males (but still less than females)
- Osteoporosis
- Diabetes
- Anxiety and depression
What is the life expectancy of Klinefelter syndrome?
Close to normal
