Congenital adrenal hyperplasia

Disease	Injury	Nutrition	Poison

Special Topic	Surgery	Symptoms	Test

Aldosterone level test

Overview

Symptoms

Treatment

Prevention

Congenital adrenal hyperplasia

Alternative Names:

Adrenogenital syndrome; 21-hydroxylase deficiency

Symptoms:

In girls:
- Ambiguous genitalia
- Early appearance of pubic and axillary hair
- Excessive hair growth
- Deep voice
- Abnormal menstrual periods
- Failure to menstruate
In boys early development of masculine characteristics:
- Well-developed musculature
- Enlarged penis
- Small testes
- Early appearance of pubic and axillary hair

Both boys and girls will be tall as children but significantly shorter than normal as adults.

Signs and tests:

Decreased aldosterone and cortisol in blood
Elevated urinary 17-ketosteroids
Normal or decreased urinary 17-hydroxycorticosteroids
Elevated 17-OH progesterone in blood
Elevated serum DHEA sulfate
X-ray for bone age (demonstrates markedly advance bone age above chronological age)
Abnormal salt levels
- in blood (serum electrolytes)
- in urine

This disease may also alter the results of the following tests:

Pregnanediol
Estriol - urine
Estriol - serum

Review Date: 5/17/2002
Reviewed By: A.D.A.M. editorial. Previous review: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network (9/9/2001).

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