Congenital adrenal hyperplasia CAH

• Facts:
  Autosomal recessive disorder
  Deficiency in enzymes responsible for steroid synthesis
  MC 21-hyroxylase deficiency (excess 17 alpha-hydroxyprogesterone)
  Shunted to androgen sythesis ( hirsuitism , virilism)
• History / PE:
  Ambiguous genitalia (female infants)
  Macrogenitosomia (male infants)
  Adolescent onset of hirsuitism and virilism
• Diagnosis:
  Elevated 17-hydroxyprogesterone
  Normal DHEA levels
• Differential Diagnosis:
  Aromatase deficiency (ambiguous external genitalia, decreased estrogen levels)