Congenital adrenal hyperplasia

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Aldosterone level test

Adrenogenital syndrome; 21-hydroxylase deficiency

• In girls:
  • Ambiguous genitalia
  • Early appearance of pubic and armpit 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 armpit hair

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

• Low levels of  aldosterone and cortisol
• High levels of urinary 17-ketosteroids
• Normal or low urinary 17-hydroxycorticosteroids
• High levels of 17-OH progesterone
• High levels of serum DHEA sulfate
• X-ray for bone age (demonstrates markedly older bones than what is normal for the person's actual age)
• Abnormal salt levels in blood (serum electrolytes) and urine
• Genetic tests can help diagnose or confirm the disease, and can be useful in the management of the condition.

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

• Pregnanediol
• Estriol - urine
• Estriol - serum

Review Date: 05/31/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.