Perineal lipoma with accessory labioscrotal fold and penis-like phallus in a female infant with unilateral renal agenesis

Abstract

We present a case of a female 46,XX infant with a perineal lipoma within an accessory labioscrotal fold containing a penis-like phallus, associated with contralateral renal agenesis and complete absence of Müllerian/paramesonephric structures. To our knowledge, this is the first report of perineal lipoma and accessory labioscrotal fold associated with urogenital abnormalities in a female. The case also has an exceptional penis-like phallus in the absence of Y chromosome material or evidence of virilization.