Summary

• CAH is suspected in females who are virilised at birth, who become virilised postnatally, or who have precocious puberty or adrenarche.
• Males with virilisation in childhood and infants of either sex with a salt-wasting crisis in the first 4 weeks of life are likely to be affected with CAH.
• The diagnosis is confirmed by biochemical findings, such as an unequivocally elevated serum concentration of 17-hydroxyprogesterone.
• Serum concentrations of delta-androstenedione and progesterone are increased in males and females with 21-hydroxylase-deficient CAH.
• Serum concentrations of testosterone and adrenal androgen precursors are increased in affected females and prepubertal males.