Ambiguous Genitalia in Pediatrics — Case | Pediatric Endocrinology | SMLE Q#11097
SMLE Question #11097
Pediatrics
Pediatric Endocrinology
Objective: OBJ-173
Last updated: February 2026
A 24-hour-old term neonate is evaluated for ambiguous genitalia, lethargy, and poor feeding. Examination shows hyperpigmented genital skin, clitoromegaly, and fused labioscrotal folds. Initial labs show hyponatraemia, hyperkalaemia, metabolic acidosis, hypoglycaemia, and markedly elevated 17-hydroxyprogesterone, suggesting congenital adrenal hyperplasia due to a steroid biosynthesis enzyme deficiency. Which inheritance pattern best fits the underlying condition?
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