Turner's Syndrome

Question 1

Which gender does Turner’s syndrome affect and why?

Answer 1

Females

It is caused by the presence of one sex chromosome.

45XO

Question 2

What are the features of Turner’s syndrome?

Answer 2

• Short stature
• Shield chest, widely spaced nipples
• Webbed neck
• Bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
• Primary amenorrhoea
• Cystic hygroma (often diagnosed prenatally)
• High-arched palate
• Short fourth metacarpal
• Multiple pigmented naevi
• Lymphoedema in neonates (especially feet)

Question 3

Question 4

What is associated with Turner’s Syndrome?

Answer 4

Autoimmune disease - especially:

• Autoimmune thyroiditis
• Crohn’s Disease