Turners

Question 1

Chromosomal abnormality in Turners

Answer 1

45,XO or 45,X
=> presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes

Question 2

Physical features

Answer 2

short stature
shield chest, widely spaced nipples
webbed neck
high-arched palate
short fourth metacarpal
multiple pigmented naevi
lymphoedema in neonates (especially feet)

Question 3

Cardiac complications

Answer 3

bicuspid aortic valve (15%), coarctation of the aorta (5-10%)

Question 4

Do patients with Turners experience puberty?

Answer 4

Yes but have primary amenorrhoea

Question 5

Are gonadotrophin levels high or low?

Answer 5

High

Question 6

hypothyroidism is much more common in Turner’s. TRUE/FALSE?

Answer 6

TRUE

• increased incidence of autoimmune disease (especially autoimmune thyroiditis) and Crohn’s disease

Question 7

most common renal abnormality in Turners

Answer 7

horseshoe kidney