A 3-week-old neonate with ambiguous genitalia, 46,XX karyotype, and markedly elevated 17-OHP is diagnosed with 21-hydroxylase deficiency. Her blood pressure is 92/60 mmHg (elevated for age) and plasma renin activity is suppressed. Which additional hormonal finding explains this presentation?
- A Elevated 11-deoxycorticosterone (DOC) ✓
- B Low androstenedione
- C Elevated aldosterone
- D Low 17-hydroxypregnenolone
Correct answer: A. Elevated 11-deoxycorticosterone (DOC)
Explanation
11-Deoxycorticosterone (DOC) is a mineralocorticoid precursor that accumulates proximal to the 21-hydroxylase block. In simple virilizing (non-salt-wasting) CAH, DOC excess causes hypertension and suppresses renin, compensating for any relative aldosterone deficiency. This distinguishes simple virilizing from salt-wasting CAH, where DOC cannot accumulate sufficiently and hyponatremia/hyperkalemia dominate. Elevated DOC, not aldosterone, drives the hypertension.
Reference: Williams Textbook of Endocrinology, 14th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.