Congenital Adrenal Hyperplasia

Question 1

define

Answer 1

rare conditions associated with enzyme defects in steroid pathway causing too little corticosteroids and too much androgens to be produced

Question 2

most common defect

Answer 2

AD 21alpha-hydroxylase deficiency

Question 3

two types of primary aldosteronism

Answer 3

adenoma
adrenal hyperplasia (CAH)

Question 4

two variants of AD 21alpha-hydroxylase deficiency

Answer 4

classical (severe presenting from birth)

non-classical (non-severe presenting later in life)

Question 5

presentation of classical in males

Answer 5

adrenal insufficiency
poor weight gain
biochemical pattern (Addison’s)

Question 6

presentation of classical in females

Answer 6

genital ambiguity

Question 7

non-classical presentation

Answer 7

hirsute
acne 
oligomenorrhoea
precocious puberty
infertility

Question 8

define classical

Answer 8

salt-wasting and simple virilising

Question 9

define non-classical

Answer 9

hyperandrogenaemia

Question 10

diagnosis

Answer 10

basal (or stimulated) 17-OH progesterone

genetic mutation analysis

Question 11

management in children

Answer 11

glucocorticoid and mineralocorticoid (some) replacement

surgery

Question 12

management in adults

Answer 12

control androgen excess
restore fertility
avoid steroid over-replacement

Question 13

when should spironolactone or eplerenone be used?

Answer 13

if side effects of nausea, rashes and gynacomastia occur