Bongiovanni Syndrome

Important Symptoms of 11β hydroxylase deficiency (Bongiovanni syndrome)

• 11β-Hydroxylase deficiency occurs in about 1:100,000 births.

• All affected females are born with some degree of masculinization of the external genitalia, including clitoromegaly and partial or complete fusion of the labioscrotal folds. Internal genitalia are normal.

• Other symptoms of androgen excess that occur postnatally include rapid somatic growth with accelerated skeletal maturation, leading to premature closure of the epiphyses and short adult stature.

• Mineralocorticoid excess leads to hypokalemic metabolic alkalosis in many patients.

• About 67% of these patients have low-renin hypertension beginning early in life (e.g., ages 1 to 2 years).

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