Abstract
Congenital perineal lipoma is extremely rare and may lead to a misdiagnosis of ambiguous genitalia. The authors report on two girls referred for ambiguous genitalia, with unremarkable gestational arid perinatal histories. Both had normal female external genitalia and a normal 46,XX karyotype. Patient 1 had a polypoid, protruding 3 × 2 × 1.5-cm phallic-like mass, arising from the inferior border of the left labium majus, and patient 2 had a similar mass of 1.5 × 1.5 × 1 cm at the same site and an imperforate anus. In both cases, the mass was removed and found to be a lipoma. To the authors' knowledge, perineal lipoma has been reported only in 11 girls, nine of them associated with anorectal malformations. Migration and fusion of the labioscrotal folds and formation of the urorectal septum are simultaneous developmental events, occurring in the same region, which may explain the association of perineal lipoma and anorectal malformations.
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