A group of autosomal recessive disorders affecting adrenal steroidogenesis. Most common is 21-hydroxylase deficiency causing cortisol and aldosterone deficiency with androgen excess. Can cause life-threatening salt-wasting crisis in newborns.

• 1Genetic testing
• 2Clinical evaluation
• 3Family history assessment
• 4Specialized laboratory tests
• 5Imaging studies
• 6Biopsy (if applicable)

Excellent with treatment. Normal life expectancy. Fertility usually preserved with good control. Risk of adrenal crisis requires patient education. Salt-wasting crises preventable with fludrocortisone.

• Genetic counseling
• Carrier screening
• Prenatal diagnosis
• Preimplantation genetic diagnosis
• Family planning