Congenital adrenal hyperplasia

Alternative names:

adrenogenital syndrome

Symptoms:

• in females
  • ambiguous genitalia
  • early appearance of pubic and axillary hair
  • hair, excessive on females
  • deep voice
  • menstrual periods, abnormal
  • failure to menstruate

• in men
  • early development of masculine characteristic
  • enlarged penis
  • small testes
  • early appearance of pubic and axillary hair

• in both
  • height as children will be taller, but ultimate adult height will be significantly shorter

Signs and tests:

• elevated urinary 17-ketosteroids
• normal or decreased urinary 17-hydroxycorticosteroids
• elevated 17-OH progesterone
• elevated serum DHEA sulfate
• X-ray for bone age (demonstrates markedly advance bone age above chronological age)
• serum electrolytes (abnormal in infants with salt-losing form of adrenogenital syndrome)

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

• pregnanediol
• estriol - urine
• estriol - serum