POMC and disorder of sexual differentiation: Considering the slightly elevated basal ACTH levels in all three patients with 46,XY DSD and the subnormal cortisol response after stimulation test with 1 mcg ACTH in the proband, it may be inferred that p.Cys65Tyr mutation could have a late-onset effect upon adrenal function, justifying a long term follow-up on such patients.