Hypoadrenal disorders

Question 1

What is the most common cause of congenital adrenal hyperplasia?

Answer 1

21 hydroxylate deficiency

Question 2

What is the presentation of complete congenital adrenal hyperplasia?

Answer 2

Excess sex steroid synthesis
Ambiguous genitalia
Salt losing crisis in neonates
High ACTH

Question 3

What is the presentation of adrenocortical failure-Addison’s disease?

Answer 3

Hypotension
Hyperkalaemia
Vitiligo
Weight loss

Question 4

What is the presentation of partial congenital adrenal hyperplasia?

Answer 4

Low cortisol and aldosterone
Excess steroids and testosterone (hirsutism and vitalisation in girls and precocious puberty in boys)
Present later in life

Question 5

What occurs if you have 11 beta hydroxylate deficiency?

Answer 5

Excess sex steroid synthesis
No cortisol or aldosterone synthesis
Able to make 11 deoxycorticosterone and 11 deoxycortisol
11 deoxycorticosterone is a mineralocorticoid so they can still retain Na but causes
Hypertension, hypokalaemia and virilisation

Question 6

What occurs if you have17alpha hydroxylate deficiency?

Answer 6

Cannot make cortisol or sex steroids
11 deoxycorticosterone and aldosterone are in excess
Hypertension, Hypokalaemia, Hypoglycaemia (cortisol deficiency)
Gonads can make sex steroids though

Question 7

What test do you do for Addison’s?

Answer 7

Short Synacthen test

Large dose of ACTH should increase cortisol levels