A total of 9 of these patients had CAIS, 3 had 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) deficiency, 8 had SRD5A2 gene variants causing 5α-reductase deficiency, 2 had pathogenic variants in the SRY gene, and 6 had variants in the NR5A1 gene causing a Steroidogenic Factor 1 (SF1) defect. Here, NR5A1 is linked to hyperinsulinemic hypoglycemia, familial, 4.