Congenital adrenal hyperplasia is an autosomal recessive disorder due to enzyme deficiency in steroid synthesis. Which newborn presentation is common?

Congenital adrenal hyperplasia is an autosomal recessive disorder due to enzyme deficiency in steroid synthesis. Which newborn presentation is common?

• A. Genital ambiguity
• B. Hypertension
• C. Hyperkalemia
• D. Hyperglycemia

Answer: (A)

Congenital adrenal hyperplasia from 21-hydroxylase deficiency pushes adrenal steroids toward excess androgens. In a newborn girl, this surge virilizes the external genitalia, producing genital ambiguity that is the classic presentation. While lack of aldosterone can cause salt-wasting with dehydration, hyponatremia, and hyperkalemia (and hypotension), those features are not as immediately striking at birth as visible genital virilization. Hypertension and hyperglycemia are not typical newborn findings in this condition.

Congenital adrenal hyperplasia from 21-hydroxylase deficiency pushes adrenal steroids toward excess androgens. In a newborn girl, this surge virilizes the external genitalia, producing genital ambiguity that is the classic presentation. While lack of aldosterone can cause salt-wasting with dehydration, hyponatremia, and hyperkalemia (and hypotension), those features are not as immediately striking at birth as visible genital virilization. Hypertension and hyperglycemia are not typical newborn findings in this condition.