Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).

Abstract excerpt

Congenital adrenal hyperplasia, caused by any one of a number of inborn errors of steroidogenesis in which cortisol is not sufficiently produced by the adrenal cortex, is in most cases due to a deficiency of the enzyme steroid 21-hydroxylase. Classic 21-hydroxylase deficiency occurs in about 1 in 14,000 live births. In classic 21-hydroxylase deficiency, the most common cause of genital ambiguity in females,...

Topics

• Adrenal Hyperplasia, Congenital
• Female
• Humans
• Male
• Mutation
• Prenatal Diagnosis