Question 341 · LEK · Congenital adrenal hyperplasia

Congenital adrenal hyperplasia may be detected in a screening test of a newborn when a dried blood spot test reveals:

  1. A. increased ACTH.
  2. B. ionic disorders: hypernatraemia and hypokalaemia.
  3. C. hypoglycaemia.
  4. D. increased 17-hydroxyprogesterone.
  5. E. increased cortisol.
Hint

The most common form is 21-hydroxylase deficiency; think about which steroid precursor accumulates proximal to the enzymatic block.

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