Congenital Lipoid Adrenal Hyperplasia is the rarest form of adrenal steroid defect. It is characterised by a complete deficiency of all adrenal steroid hormones (aldosterone, cortisol and sex steroids). It is an autosomal recessive disease, and is fatal in 2/3 of patients in infancy.
It presents during the neonatal period with severe adrenal insufficiency (see section on adrenal insufficiency). There is failure to thrive with vomiting, diarrhoea, hyponatremia (low blood sodium) and hypokalemia (low blood potassium). A genetic male will have female genitalia as a result of the deficient testicular androgens. Most of the patients do not survive infancy, but the ones that do are treated with hormone replacement.