How does CAH typically present in a newborn girl versus a boy?

How does CAH typically present in a newborn girl versus a boy?

• A. Girls may have salt-wasting crisis; boys have virilization at puberty.
• B. Girls have virilized external genitalia; boys may present with salt-wasting crisis or virilization at puberty.
• C. Girls have normal genitalia; boys have ambiguous genitalia at birth.
• D. Girls may have virilized external genitalia; boys may present with salt-wasting crisis or virilization at puberty, depending on genotype.

Answer: (D)

CAH from 21-hydroxylase deficiency causes excess adrenal androgens that affect males and females differently at birth. In newborn girls, those high androgens virilize the external genitalia in utero, leading to virilized or ambiguous genitalia at birth. In newborn boys, the external genitalia are usually normal at birth because prenatal androgens don’t disrupt male genital development, but the illness can present early with a salt-wasting crisis if aldosterone production is impaired. If the deficiency is milder or nonclassic, boys may not have a salt-wasting crisis and can show signs of androgen excess later at puberty. So the typical presentation is that girls may have virilized external genitalia, while boys may present with a salt-wasting crisis or virilization at puberty, depending on genotype.

CAH from 21-hydroxylase deficiency causes excess adrenal androgens that affect males and females differently at birth. In newborn girls, those high androgens virilize the external genitalia in utero, leading to virilized or ambiguous genitalia at birth. In newborn boys, the external genitalia are usually normal at birth because prenatal androgens don’t disrupt male genital development, but the illness can present early with a salt-wasting crisis if aldosterone production is impaired. If the deficiency is milder or nonclassic, boys may not have a salt-wasting crisis and can show signs of androgen excess later at puberty. So the typical presentation is that girls may have virilized external genitalia, while boys may present with a salt-wasting crisis or virilization at puberty, depending on genotype.