HSD17B3 and hyperinsulinemic hypoglycemia, familial, 4: The most frequent presentation of the HSD17B3 deficiency, which might be clinically indistinguishable from AIS or SRD5A2 deficiency, is a 46,XY individual with female external genitalia, hypoplastic vagina, and an absent uterus, with or without mild clitoromegaly, in childhood seeking medical attention because of inguinal or intralabial masses, while at puberty or in adulthood because of virilization or primary amenorrhea [56,59].