It is caused by autosomal recessive gene mutations, encoding enzymes in the adrenal steroidogenesis pathway. The majority, CYP21A1 mutations, result in 21-hydroxylase deficiency, with: inability to ...

Revolutionizing care for phenylalanine hydroxylase (PAH) deficiency, ACMG's updated guidelines highlight evidence-based strategies to enhance neurocognitive health and protect maternal and fetal ...

In congenital adrenal hyperplasia (CAH), a mutation (genetic change) causes the adrenal glands to make too little cortisol. In the most common type of CAH, called 21-hydroxylase deficiency, the ...