Klinefelter syndrome

Question 1

What is Klinefelter syndrome?

Answer 1

Klinefelter syndrome occurs when a male has an additional X chromosome, making them 47 XXY. Under normal circumstances males have XY sex chromosomes and females have XX sex chromosomes.

Rarely people with Klinefelter syndrome can have even more X chromosomes, such as 48 XXXY or 49 XXXXY. This is associated with more severe features.

Question 2

Features of klinefelter syndrome?

Answer 2

Usually patients with Kleinfelter syndrome appear as normal males until puberty. At puberty can develop features suggestive of the condition:

Taller height
Wider hips
Gynaecomastia
Weaker muscles
Small testicles
Reduced libido
Shyness
Infertility
Subtle learning difficulties (particularly affecting speech and language)

Question 3

Management options for klinefelter syndrome?

Answer 3

There is no way to treat the underlying genetic cause of Klinefelter syndrome. Treatment aims to help with the features of the condition:

Testosterone injections improve many of the symptoms
Advanced IVF techniques have the potential to allow fertility
Breast reduction surgery for cosmetic purposes

Multidisciplinary team input:

Speech and language therapy to improve speech and language
Occupational therapy to assist in day to day tasks
Physiotherapy to strengthen muscles and joints
Educational support where required for dyslexia and other learning difficulties

Question 4

Prognosis Klinefelter syndrome?

Answer 4

Life expectancy is close to normal. Infertility can occasionally be treated with advanced IVF techniques.

There is a slight increased risk of:

Breast cancer compared with other males (but still less than females)
Osteoporosis
Diabetes
Anxiety and depression