Test Directory

Allan-Herndon-Dudley syndrome and its Differential Diagnosis (8 Gene)

Congenital adrenal hyperplasia (Panel)

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in enzymes involved in cortisol biosynthesis. The most common form is due to 21‑hydroxylase deficiency (CYP21A2), but other genes including CYP11A1, CYP17A1, CYP11B1, HSD3B2, STAR, and POR can also be implicated, each leading to distinct subtypes of CAH. Clinical features vary depending on the enzyme affected, but may include ambiguous genitalia in females, virilization, and potentially life‑threatening salt‑wasting crises in both sexes. Severe cases can present in the first weeks of life with hyponatremia, hyperkalemia, and hypotension if not promptly recognized. Early diagnosis is critical to prevent complications, guide hormone replacement therapy, and support appropriate gender assignment and long‑term management.