title: 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.
authors.affiliation: Department of Histopathology, Level 3, Camelia Botnar Laboratories, Great Ormond Street Hospital for Children, London, United Kingdom. Electronic address: william.mifsud@gosh.nhs.uk.
authors.forename: William
authors.initials: W
authors.lastname: Mifsud
authors.affiliation: Department of Urology, Great Ormond Street Hospital for Children, London, United Kingdom.
authors.forename: Nikola
authors.initials: N
authors.lastname: Sambandan
authors.affiliation: Department of Radiology, Great Ormond Street Hospital for Children, London, United Kingdom.
authors.forename: Paul
authors.initials: P
authors.lastname: Humphries
authors.affiliation: Department of Histopathology, Level 3, Camelia Botnar Laboratories, Great Ormond Street Hospital for Children, London, United Kingdom.
authors.forename: Neil J
authors.initials: NJ
authors.lastname: Sebire
authors.affiliation: Department of Urology, Great Ormond Street Hospital for Children, London, United Kingdom.
authors.forename: Imran
authors.initials: I
authors.lastname: Mushtaq
mesh_terms: D000015:Abnormalities, Multiple; D000013:Congenital Abnormalities; D012734:Disorders of Sex Development / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D007674:Kidney Diseases / Q000150:complications / Q000151:congenital*; D008067:Lipoma / Q000150:complications*; D008297:Male; D010413:Penis; D010502:Perineum; D010641:Phenotype; D014844:Vulva / Q000002:abnormalities*