Congenital Adrenal Hyperplasia Flashcards
1
Q
Inheritance pattern
A
autosomal recessive
2
Q
What is it?
A
Defect in adrenals secretion = low cortisol. More ACTH produced to deal with this but can lead to virilisation due to concomittant secretion of adrenal androgens
3
Q
What are the 3 main patterns of deficiency from most to least common
A
21 hydroxylase
11 beta hydroxylase
17 hydroxylase
4
Q
Symptoms of 21 hydroxylase
A
Virilisation of femal genitalia
precocious puberty in males
Salt Crisis between 1-3 weeks of age
5
Q
Symptoms of 11 beta hydroxylase
A
Virilisation of female genitalia
Precocious puberty in males
Hypertension
Hypokalaemia
6
Q
17 hydroxylase
A
Inter-Sex males
Hypertension
