CAH-X syndrome is estimated to be found in approximately 7–9% of CAH patients [7, 14, 34] and is classified into three types (CAH-X CH-1, CAH-X CH-2, and CAH-X CH-3) as a result of chimeric recombination events between the TNXB/TNXA during meiosis, resulting in the deletion of the CYP21A2 gene [15]. This evidence concerns the gene CYP21A2 and congenital adrenal hyperplasia.