Congenital adrenal hyperplasia : Symptoms & Signs, Diagnosis & Tests

Symptoms & Signs

Girls will usually have normal female reproductive organs (ovaries, uterus, and fallopian tubes). They may also have the following changes:

  • Abnormal menstrual periods
  • Deep voice
  • Early appearance of pubic and armpit hair
  • Excessive hair growth and facial hair
  • Failure to menstruate
  • Genitals that look both male and female (ambiguous genitalia), often appearing more male than female

Boys won’t have any obvious problems at birth. However, they may appear to enter puberty as early as 2 – 3 years of age. Changes may include:

  • Deep voice
  • Early appearance of pubic and armpit hair
  • Early development of male characteristics
  • Enlarged penis
  • Small testes
  • Well-developed muscles

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

Some forms of congenital adrenal hyperplasia are more severe and cause adrenal crisis in the newborn due to a loss of salt. Newborns with these forms develop severe symptoms shortly after birth, including:

  • Cardiac arrhythmias
  • Dehydration
  • Electrolyte changes
  • Vomiting

Diagnosis & Tests

  • Abnormal salt levels in blood (serum electrolytes) and urine
  • High levels of 17-OH progesterone
  • High levels of serum DHEA sulfate
  • High levels of urinary 17-ketosteroids
  • Low levels of aldosterone and cortisol
  • Normal or low urinary 17-hydroxycorticosteroids
  • X-ray for bone age (shows older bones than normal for the person’s age)

Genetic tests can help diagnose, confirm, and manage the disease.

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

  • Estriol – serum
  • Estriol – urine
  • Pregnanediol


Review Date : 1/21/2010
Reviewed By : Chad Haldeman-Englert, MD, Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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