Genetics - Kleinfelter's Syndrome

Question 1

Defintion

Answer 1

Occurs when a male has an additional X chromosomes making them 47 XXY.
- Rarely people with Klinefelter sydnrome can even have more X chromosomes such as 48 XXXY or 49 XXXXY = more severe features

Question 2

Signs and symptoms

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

Treatment

Answer 3

No cure
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

Question 4

MDT support

Answer 4

• 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 5

Increased risk of normal

Answer 5

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

Question 6

Prognosis

Answer 6

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