Turner's Syndrome

Question 1

What is the karyotype of Turner’s syndrome?

Answer 1

45 XO

Question 2

What is this a presentation of?
Female, short stature, low hairline, high arched palate, neck webbing, widely spaced nipples, wide carrying angle, aortic stenosis/coarctation.

Answer 2

Turner’s syndrome

Question 3

How is Turner’s syndrome diagnosed?

Answer 3

1. Presents with short stature/delayed puberty
2. Primary amenorrhoea
3. Karyotype - when suspicious or in females with aortic problems
4. Abdominal USS - streak ovaries and small uterus
5. Echo - aortic disease
6. Hypergonadotropic hypogonadism

Question 4

What is the management for Turner’s syndrome?

Answer 4

1. Regular growth monitoring
2. Echo screening
3. Growth hormone during childhood
4. Cyclical oestrogen to achieve puberty and bone mineral density

Question 5

What are the complications of Turner’s syndrome?

Answer 5

1. Increased risk of death - aortic dissection
2. HTN, CVD
3. Majority are infertile, can still conceive through IVF and donor eggs