turners

Question 1

what is is

Answer 1

only females and results when one of the X chromosomes is missing or partially missing.

Question 2

presentation

Answer 2

Short stature
Lymphoedema of hands and feet in neonate, may persist
Spoon-shaped nails
Webbed neck
Widely space nipples

Delayed puberty
Ovarian dysgenesis causing infertility
Hypothyroidism
Recurrent otitis media- ear infection
Normal intellect

Question 3

heart defects

Answer 3

Congenital heart defects - bicuspid aortic valve (most common), coarctation of the aorta

Question 4

risk of which cv disease

Answer 4

aortic stenosis and aortic dissection