In this study, four CAH probands were analysed, revealing CYP21A2 gene variants in three probands and compound heterozygous variations in the HSD3B2 gene—NM_000198:c.121G > T (p.E41*) and c.757T > G (p.Y253D)—in one proband (Table 1). Here, HSD3B2 is linked to congenital adrenal hyperplasia.