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

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

• 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
• Genetic testing is often helpful in diagnosing or confirming the disease and can be useful in the management of the condition.

• Pregnanediol
• Estriol - urine
• Estriol - serum