Approaching Fertility in Congenital Adrenal Hyperplasia: Exploring P30L Mutation-Induced 21-Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH), primarily caused by mutations in the CYP21A2 gene, leads to a deficiency of the 21 hydroxylase enzyme, crucial for cortisol and aldosterone synthesis. This deficiency can result in various forms of CAH, including classical CAH with salt wasting and simple virilizing forms, and non-classical or late-onset CAH forms. Patients with 21 hydroxylase deficiency often face significant fertility challenges. Glucocorticoid therapy can aid in achieving and maintaining pregnancy, but it requires careful administration. The document presents a case of a woman with CAH due to 21 hydroxylase deficiency caused by the P30L mutation, whose clinical and biochemical presentation falls between the non-classical form and the classic simple virilizing form. The successful fertility management in this patient is also discussed, providing an overview of fertility management in CAH.