Genetic syndromes Flashcards
1
Q
Describe the features of Donoheu syndrome?
A
Leprechaunism small stature elfin facial appearance absence of adipose tissue severe insulin resistance
2
Q
What causes the severe insulin resistance in Donoheu syndrome?
A
mutation in the gene for the insulin receptor
3
Q
How is Donoheu syndrome inherited?
A
autosomal recessive
4
Q
What are the features of Rabson Mendenhall Syndrome?
A
severe insulin resistance hyperglycaemia compensatory hyperinsulineamia developmental abnormalities hyper pigmentation prone to diabetic ketoacidosis
5
Q
What causes the severe insulin resistance in Rabson Mendenhall Syndrome?
A
mutation in the insulin receptor that reduces the sensitivity
