17 alpha-hydroxylase deficiency (patient information)

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Mehrian Jafarizade, M.D [2]

Symptoms of 17 alpha-hydroxylase deficiency include delayed puberty and primary amenorrhea. Mutations in the CYP17 gene cause 17 alpha-hydroxylase deficiency. The most potent risk factor in the development of 17 alpha-hydroxylase deficiency is the presence of family history of 17 alpha-hydroxylase deficiency. Laboratory findings consistent with the diagnosis of 17 alpha-hydroxylase deficiency include elevated 17α-hydroxyprogesterone, elevated androstenedione, elevated urinary 17-ketosteroids and decreased renin.

Symptoms of 17 alpha-hydroxylase deficiency include delayed puberty and primary amenorrhea and hypertension.

Mutations in the CYP17 gene cause 17 alpha-hydroxylase deficiency.

The most potent risk factor in the development of 17 alpha-hydroxylase deficiency is the presence of family history of this disease.

Laboratory findings consistent with the diagnosis of 17 alpha-hydroxylase deficiency include elevated 17α-hydroxyprogesterone, elevated androstenedione, elevated urinary 17-ketosteroids and decreased renin.

A person should seek urgent medical care when there are any complications that arise from 17 alpha-hydroxylase deficiency such as hypertension.

The mainstay of therapy for 17 alpha-hydroxylase is glucocorticoid therapy. Also, spironolactone and estrogen may be used.

Directions to Hospitals Treating 17 alpha-hydroxylase deficiency

Prenatal diagnosis of 17 alpha-hydroxylase deficiency is conducted to prevent complication of the disease in future life and treated with prenatal dexamethasone treatment.

The prognosis of 17 alpha-hydroxylase deficiency is generally good with treatment

• Vascular hemorrhage
• Renal insufficiency
• Left ventricular hypertrophy
• Hypertensive retinopathy
• Stroke

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