Surprisingly, excretion rates of PT, 17HP, and PD are elevated, similar to CYP21A2 deficiency; however, in CYP21A2 deficiency, the 5PT/PTONE ratio is typically low (<1.5), whereas it is high (>35) in HSD3B2 deficiency (14, 23) (Table 2). This evidence concerns the gene CYP21A2 and hyperinsulinemic hypoglycemia, familial, 4.