Turner's Syndrome

Question 1

What is turner’s syndrome?

Answer 1

It is a chromosomal disorder in which there is 22 pairs of chromosome and 1 X chromosome. Therefore the individual is 45X. (Normal F = 46XX M=46XY).

It can also occur where there is a deletion of the short arm of one of the X chromosomes.

It only affects females as it is incompatible with males.

Question 2

What are the dysmorphic features associated with Turners?

Answer 2

Short stature
Webbed neck
Broad chest
Widely spaced nipples
Spoon shaped nails (koilionychia)

Lymphedema in hands and feet in neonates which may persist.

Question 3

What are the associated problems with Turners?

Answer 3

Major features:
Infertility due to lack of development of the ovaries.
Short stature

Head:
Mild learning difficulty
Recurrent otitis media

Heart:
Congenital heart defects (Coarctation of the aorta)

Endocrine:
Hypothyroidism
Diabetes

Renal:
Renal anomalies
HTN

Reproductive:
Delayed puberty
Ovarian dysgenesis resulting in infertility

Question 4

How is turners diagnosed?

Answer 4

Antenatally:
An ultrasound investigation will often reveal:
-fetal oedema of the neck, hands and feet
AND/OR
-cystic hygroma (benign congenital neck swelling).

Further tests include chorionic villus sampling and amniocentesis for genetic screening.

Postnatally:
If suspected can have a karyotype blood test which analyses the chromosomal composition.

This test should be considered in girls with delayed puberty and very short stature.

Question 5

How should you manage a patient with turner’s syndrome?

Answer 5

Patient and parent counselling (age appropriately)

Growth hormone can be given to children from the age of 5 so that they can reach a normal adult stature.

Frequent monitoring:

• Hearing and ears
• Blood pressure
• Glucose
• Thyroid
• Bone density

Note: Fertility is only possible with IVF with donor eggs