A newborn girl has ambiguous genitalia with clitoromegaly, vomiting, dehydration, hyponatremia, and hyperkalemia on day 10 of life. Plasma 17-hydroxyprogesterone is markedly elevated. The enzyme deficiency responsible also leads to excess production of:
- A Cortisol and epinephrine
- B Aldosterone and cortisol
- C 11-deoxycorticosterone and androgens ✓
- D Dehydroepiandrosterone sulfate and estradiol
Correct answer: C. 11-deoxycorticosterone and androgens
Explanation
21-hydroxylase deficiency, the commonest form of congenital adrenal hyperplasia, blocks conversion of progesterone precursors to aldosterone and cortisol. Accumulated precursors are shunted into the androgen pathway, causing virilization, while salt-wasting results from aldosterone deficiency. Elevated 17-hydroxyprogesterone is diagnostic. In 11-beta-hydroxylase deficiency the accumulating steroid is 11-deoxycorticosterone, but that disorder causes hypertension rather than salt wasting.
Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.