Distinct etiologies of 46,XY differences of sex development within a single family: A case series of 17β-HSD3 deficiency and complete androgen insensitivity syndrome
Background: 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency and complete androgen insensitivity syndrome (CAIS) are rare causes of 46,XY differences of sex development (DSD) that may present with similar undervirilized phenotypes despite distinct underlying mechanisms. We report two related individuals fr...