SF1 and hyperinsulinemic hypoglycemia, familial, 4: In this study, two novel SF-1 mutations (Glu7Stop, His408Profs*159) were identified in 5 patients with SF-1 deficiency, all manifesting with 46,XY DSD and one (Glu7Stop) presenting with adrenal insufficiency that is rarely associated with SF-1 mutations.