Genetics - Turner Syndrome

Question 1

Definition

Answer 1

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

Question 2

Signs and symptoms

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

Question 3

Cubitus valgus defintion

Answer 3

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 4

Assosciated conditions

Answer 4

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

Question 5

Treatment

Answer 5

No cure.
Treatment aims to help with the symptoms of the condition:
- Growth hormone therapy = prevent short stature
- Oestrogen and progesterone replacement = establish female secondary sex characteristics, regulate the menstrual cycle and prevent osteoporosis
- Fertility treatment = increase chances of becoming pregnant
- Patients need monitoring for the associated conditions and complications. Treatable conditions such as hypertension and hypothyroidism should be managed appropriate.