Congenital Adrenal Hyperplasia

Question 1

Congenital deficiency in 21-a-hydroxylase.
o This is necessary for the production of ? and ?, but not ? ?.
o ? is variable, giving many different presentations.

Answer 1

min+glucocorticoid
sex hormones
genotype

Question 2

Aldosterone and cortisol levels ?, with consequent ACTH ?.
—-o Precursors such as ? build up, and go down the alternative pathway to form ? hormones.
? levels are raised.

Answer 2

low
raised
progesterone
sex
testosterone

Question 3

Clinical features;
Virilisation of the external genitalia in females
—? hypertrophy and variable ? of the ?.
? penis and ? scrotum is seen in the male, yet this is rarely picked up.
–Presents with a ?-losing crisis in 80% of males at 1-3 ? of age.
–In the non ?-losing males, presents as hyper virilisation.
——• ? pubarche, adult body ?, ? build.

Answer 3

clitoral
fusion
labia
enlarged
pigmented
salt
weeks
salt
early
odour
muscular

Question 4

Investigations;

17-a-? levels: markedly ?.
o This is diagnostic.
Other features may be low ?, high ? and metabolic ? in salt losers.

Answer 4

hydroxyprogesterone
raised
na
k
acidosis

Question 5

Management;
They will need ? cover, as per ? disease.
Again they are at risk of ? ?.

Answer 5

steroid
addison’s
addisonian crises