Turner's Syndrome Flashcards
What is Turner’s syndrome due to?
Females only having one X chromosome -45XO
What is the life expectancy for Turner’s syndrome?
Nearly normal
What are the triad features of Turner’s syndrome?
Short stature
Webbed neck
Widely spaced nipples
What additional cardiac features can occur with Turner’s syndrome?
Bicuspid aortic valve (15%)
Coarctation of the aorta (5-10%)
What are the additional features of Turner’s syndrome?
- primary amenorrhoea
- cystic hygroma (often diagnosed prenatally)
- high-arched palate
- short fourth metacarpal
- multiple pigmented naevi
What can present in neonates with Turner’s syndrome?
Lymphoedema- especially feet
What will be elevated in Turner’s syndrome?
Gonadotrophin (LH and FSH)
What is the most common renal abnormality in Turner’s syndrome?
Horseshoe kidney
What joint abnormality can occur in Turner’s syndrome?
Cubitus Valgus
What is cubitus valgus?
An abnormal feature of the elbow.
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.
What is there an increased risk of with Turner’s syndrome?
Autoimmune diseases
Crohn’s Disease
What autoimmune disease is someone with Turner’s syndrome more at risk of?
Thyroid- Autoimmune thyroiditis (Hasimoto’s)
IBD- Crohn’s disease
What endocrine disease is Turner’s syndrome associated with?
Hypothyroidism
What is the aim of the management of Turner’s syndrome?
Reduce the symptoms
What is given to prevent short stature in Turner’s syndrome?
Growth hormone therapy
What does oestrogen and progesterone replacement do?
Establish female secondary sex characteristics
Regulate the menstrual cycle
Prevent osteoporosis
What is a cystic hygroma?
Abnormal growths that usually appear on a baby’s neck or head.
What murmur can present with a bicuspid aortic valce?
Ejection systolic murmur
crescendo-decrescendo murmur on the upper right sternal border which radiates to the carotids.
What facial changes can someone with Turner’s syndrome have?
Low hairline
Low set ears
Webbed neck
