Turner syndrome

Question 1

What is Turner syndrome?

Answer 1

Turner syndrome occurs when a female has a single X chromosome, making them 45 XO. The O referrs to an empty space where the other X chromosome should be. Life expectancy is close to normal.

Question 2

Features of Turner syndrome?

Answer 2

Short stature
Webbed neck
High arching palate
Downward sloping eyes with ptosis
Broad chest with widely spaced nipples
Cubitus valgus
Underdeveloped ovaries with reduced function
Late or incomplete puberty
Most women are infertile

Cubitus valgus refers to an abnormal feature of the elbow. When the arm is extended downwards with the palms facing forward, the angle of the forearm at the elbow is exaggerated, angled away from the body.

TOM TIP: The three classic features to remember and look out for in exams are short stature, webbed neck and widely spaced nipples.

Question 3

Associated conditions Turners syndrome?

Answer 3

Recurrent otitis media
Recurrent urinary tract infections
Coarctation of the aorta
Hypothyroidism
Hypertension
Obesity
Diabetes
Osteoporosis
Various specific learning disabilities

Question 4

Management Turners syndrome?

Answer 4

There is no way to treat the underlying genetic cause of Turner syndrome. Treatment aims to help with the symptoms of the condition:

Growth hormone therapy can be used to prevent short stature
Oestrogen and progesterone replacement can help establish female secondary sex characteristics, regulate the menstrual cycle and prevent osteoporosis
Fertility treatment can increase the chances of becoming pregnant

Patients need monitoring for the associated conditions and complications. Treatable conditions such as hypertension and hypothyroidism should be managed appropriate.