Symptoms of 17α hydroxylase deficiency (Biglieri syndrome)
• Because patients with 17α-hydroxylase deficiency do not have excessive androgen synthesis, they tend to present later than patients with 11β-hydroxylase deficiency.
• Males may present with incomplete virilization, and females may present with primary amenorrhea and sexual infantilism at the time of puberty.
• Occasionally, genetic males with a female phenotype may present for evaluation of a hernia or inguinal mass.
• Mineralocorticoid excess leads to hypokalemic metabolic alkalosis and low-renin hypertension.