The variant is reported in both ClinVar database (ID4874) and HGMD database (CM940950) and has been previously reported in homozygous and compound heterozygous state in multiple 46,XY individuals with pseudohermaphroditism and 17-beta hydroxysteroid dehydrogenase 3 deficiency, with virilization occurring at puberty.8 The gene discussed is HSD17B3; the disease is hyperinsulinemic hypoglycemia, familial, 4.