Congenital Perineal Lipoma Presenting as Ambiguous Genitalia

Abstract

Background: Congenital perineal lipoma is extremely rare and may lead to a misdiagnosis of ambiguous genitalia. Case Reports: We report on two girls referred to our service for ambiguous genitalia. Patient 1 (17 days old) and patient 2 (2 months old) had unremarkable gestational and perinatal histories. Both had normal female external genitalia and a 46,XX karyotype. Patient 1 had a polypoid, protruding 3.0 × 2.0 × 1.5-cm phallic-like mass arising at the inferior border of the left labium majora, and patient 2 had a similar mass of 1.5 × 1.5 × 1.0 cm at the same site and an imperforate anus. In both cases the mass was removed and found to be a lipoma. Discussion: To our knowledge, perineal lipoma has been reported only in eleven girls, nine of them with associated anorectal malformation. 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.

Key words

ambiguous genitalia - perineal lipoma - neonates - sexual differentiation - anorectal malformation

References

• 1 Chanda M N, Jamieson M A, Poenaru D. Congenital perineal lipoma presenting as “ambiguous genitalia”: a case report.  Pediatr Adolesc Gynecol. 2000;  13 71-74
• 2 Lee P A, Houk C P, Ahmed S F, Hughes I A. International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology . Consensus statement on management of intersex disorders. International Consensus Conference on Intersex.  Pediatrics. 2006;  118 e488-e500
• 3 Nelson C P, Gearhart J P. Current views on evaluation, management, and gender assignment of the intersex infant.  Nat Clin Pract Urol. 2004;  1 38-43
• 4 Özcan C, Celik A, Erdener A. Accessory perineal scrotum associated with anorectal malformation.  BJU Int. 1999;  83 729-730
• 5 Park K H, Hong J H. Perineal lipoma in association with scrotal anomalies in children.  BJU Int. 2006;  98 409-412
• 6 Ramzisham A R, Thambidorai C R. Perineal hamartoma with accessory scrotum, anorectal anomaly, and hypospadias – a rare association with embryological significance: case report.  Pediatr Surg Int. 2005;  21 478-481
• 7 Rattan K N, Pandit S K, Budhiraja S. Accessory scotum with imperforate anus.  Pediatr Surg Int. 1997;  12 217
• 8 Redman J F, Ick K A, North P E. Perineal lipoma and accessory labial fold in female neonate.  J Urol. 2001;  166 1450
• 9 Shaul D B, Monforte H L, Levitt M A, Hong A R, Peña A. Surgical management of perineal masses in patients with anorectal malformations.  J Pediatr Surg. 2005;  40 188-191
• 10 Sule J D, Skoog S J, Tank E S. Perineal lipoma and the accessory labioscrotal fold: an etiological relationship.  J Urol. 1994;  151 475-477
• 11 Wester T, Rintala R J. Perineal lipomas associated with anorectal malformations.  Pediatr Surg Int. 2006;  22 979-981