congenital adrenal hyperplasia

Question 1

congenital adrenal hyperplasia

Answer 1

a group of **autosomal recessive ** disorders that impair adrenal steroid biosynthesis

-> deficiency in cortisol production leads to compensatory overproduction of ACTH

high ACTH increases production of adrenal androgens –> masculine features in female infants + affects genital development

Question 2

causes of congenital adrenal hyperplasia

Answer 2

21-hydroxylase deficiency
–> (90% of cases)

11-beta hydroxylase
17-hydroxylase deficieny

Question 3

clinical features of congenital adrenal hyperplasia

Answer 3

virilisation
- female infants with ambiguous genitalia due to excess androgen exposure in utero
- male infants appear normal at birth –> delays diagnosis

salt-wasting crisis = dehydration, hypotension, electrolyte imbalances

precocious puberty - early development of secondary characteristics

infertility
height + growth abnormalities

Question 4

diagnosing congenital adrenal hyperplasia

Answer 4

ACTH stimulation testing

• evaluates adrenal glands response to ACTH, with abnormal increases in 17OHP indicating CAH

Question 5

management of congenital adrenal hyperplasia

Answer 5

glucocorticoid replacement
- to reduce ACTH + minimise adrenal androgen production

if mineralcorticoid def -> fludrocortisone