17 alpha-hydroxylase deficiency (patient information)

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17 alpha-hydroxylase Deficiency

Overview

What are the symptoms?

What are the causes?

Who is at highest risk?

Diagnosis

When to seek urgent medical care?

Treatment options

Where to find medical care for 17 alpha-hydroxylase Deficiency?

Prevention

What to expect (Outlook/Prognosis)?

Possible complications

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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]

Overview

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.

What are the symptoms of 17 alpha-hydroxylase deficiency?

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

What causes 17 alpha-hydroxylase deficiency?

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

Who is at highest risk?

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

Diagnosis

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

When to seek urgent medical care?

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

Treatment options

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

Where to find medical care for 17 alpha-hydroxylase deficiency?

Directions to Hospitals Treating 17 alpha-hydroxylase deficiency

Prevention

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

What to expect (Outlook/Prognosis)?

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

Possible complications

Reference


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