Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency (patient information)

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Congenital adrenal hyperplasia due to 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 congenital adrenal hyperplasia due to 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: Ammu Susheela, M.D. [2]

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Overview

Symptoms of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency include delayed puberty and primary amenorrhea.[1] Mutations in the CYP17 gene cause congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. The most potent risk factor in the development of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is the presence of family history of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency include elevated 17α-hydroxyprogesterone, elevated androstenedione, elevated urinary 17-ketosteroids and decreased renin.

What are the symptoms of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency?

Symptoms of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency include delayed puberty and primary amenorrhea.[2]

What causes congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency?

Mutations in the CYP17 gene cause congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.

Who is at highest risk?

The most potent risk factor in the development of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is the presence of family history of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency.

Diagnosis

Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 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 congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency such as hypertension.

Treatment options

The mainstay of therapy for congenital adrenal hyperplasia due to 17 alpha-hydroxylase is glucocorticoid therapy.

Where to find medical care for congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency?

Directions to Hospitals Treating Congenital adrenal hyperplasia due to 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 congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency is generally good with treatment.[3]

Possible complications

Reference

  1. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. Wikipedia (2016). https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_11%CE%B2-hydroxylase_deficiency Accessed on January 29, 2016
  2. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. Wikipedia (2016). https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_11%CE%B2-hydroxylase_deficiency Accessed on January 29, 2016
  3. https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency URL Accessed on 10/15/2015

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