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Physiology · Endocrine: adrenal steroid synthesis
Sample itemA girl born with virilised genitalia is found in early childhood to have hypertension and hypokalaemia, with raised 11-deoxycortisol and low renin. What causes the hypertension?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Accumulation of 11-deoxycorticosterone, which has mineralocorticoid activity
Deficiency of 11-beta hydroxylase blocks cortisol synthesis, raising ACTH, and the precursors 11-deoxycorticosterone and 11-deoxycortisol build up. Deoxycorticosterone has mineralocorticoid action, causing sodium retention, hypertension and hypokalaemia with suppressed renin and aldosterone. Androgen excess produces virilisation.
Option by option
A. Accumulation of 17-hydroxyprogesterone, a potent vasoconstrictor
17-hydroxyprogesterone is the marker of 21-hydroxylase deficiency and is not a vasoconstrictor.
B. Excess aldosterone secretion from high ACTH
Aldosterone is low here, as indicated by suppressed renin.
C. Deficient cortisol causing loss of vascular tone
Cortisol deficiency alone would tend to lower blood pressure.
D. Accumulation of 11-deoxycorticosterone, which has mineralocorticoid activity (correct)
Correct. Deoxycorticosterone acts on the mineralocorticoid receptor and retains salt.
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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