PLOD1 and complete androgen insensitivity syndrome: Although both Swyer syndrome and CAIS can present with PA and increased risk of gonadal tumors due to the presence of Y chromosome, cases with Swyer syndrome may complain of delayed puberty, different from that in CAIS, and have their own hormonal characteristics due to the dysfunctional gonads, including increased FSH and LH levels and decreased E, T, and AMH concentrations (71).