Biglieri syndrome

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.

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