Clinical skills

Question 1

Features of Turner’s syndrome

Answer 1

XO

primary amenorrhoea
streaky gonads
cubitus valgus
coarctation

Question 2

Features of Noonan’s syndrome

Answer 2

Short stature
Hypertelorism
downwards slanting of the eyes
right sided-heart murmur
Low set posteriorly rotated ears

Question 3

What is the incidence of Noonan’s syndrome

Answer 3

1:2500

Question 4

What chemotherapy agents can cause permanent ovarian failure in children?

Which can cause transient?

Answer 4

Permanent:

Etoposide
Procarbazine
Nitrosurea

Transient:
Vincristine

Question 5

What are the features of McCune-Albright sydrome

Answer 5

sexual precocity
cafe-au-lait spots
polyostotic fibrous dysplasia

Question 6

craniopharyngioma

Answer 6

non-prolactin secreting tumour - can cause hyperprolactinaemia by compression of the pituitary stalk

Question 7

Features of androgen-insensitivity syndrome

Answer 7

XY genetics
Phenotypically female with normal breasts

Gonads should be removed after puberty as 5% risk of malignancy in the future

Question 8

thyroid and prolactin - link

Answer 8

Hyperthyroidism can be associated with hyperprolactinaemia in 3-5% of cases

Question 9

Causes of hyperprolactinaemia

Answer 9

anti-psychotics
metoclopramide
methyldopa
phenothiazines
cimetidine