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Physiology · Adrenal: steroid biosynthesis
Sample itemA 10-day-old boy has vomiting, weight loss, serum sodium 123 mmol/L, potassium 6.4 mmol/L and hyperpigmented genitalia. Deficiency of 21-hydroxylase is suspected. Which hormone level is markedly raised in the blood?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. 17-hydroxyprogesterone
Without 21-hydroxylase, 17-hydroxyprogesterone and progesterone cannot be converted to 11-deoxycortisol and 11-deoxycorticosterone. Cortisol and aldosterone fall, producing salt-wasting, while ACTH rises and drives androgen production. The raised 17-hydroxyprogesterone is the diagnostic marker used in newborn screening.
Option by option
A. Cortisol
Cortisol is low because its synthesis is blocked.
B. 11-deoxycorticosterone only
11-deoxycorticosterone is also reduced, because it also needs 21-hydroxylation.
C. Aldosterone
Aldosterone is low, causing salt wasting with hyperkalaemia.
D. 17-hydroxyprogesterone (correct)
Correct. The substrate before the block accumulates.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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