Structural Anomalies of the Bladder and External Genitalia

  • Lauren N. Hendrix
  • Ali M. ZiadaEmail author


Genitourinary tract anomalies are some of the most common forms of congenital anomalies. A thorough appreciation of embryology as well as sexual differentiation is imperative to understanding these disease processes and their related assessment and management techniques. The scope of these anomalies and the manner in which they present is vast; therefore, we have attempted to present these disease processes in a concise yet comprehensive manner. The underlying common theme is the goal of the practitioner to provide refunctionalization of the urinary tract and/or genitalia in these patients.


Inguinal Hernia Clean Intermittent Catheterization Gonadal Dysgenesis Bladder Exstrophy Indirect Inguinal Hernia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Burbige KA, Lebowitz RL, Colodny AH et al (1984) The megacystis-megaureter syndrome. J Urol 1131:1133Google Scholar
  2. 2.
    Gearhart JP, Ben-Chaim J, Jeffs RD et al (1995) Criteria for the prenatal diagnosis of classic bladder exstrophy. Obstet Gynecol 85:961CrossRefPubMedGoogle Scholar
  3. 3.
    Weight CJ, Chand D, Ross JH (2006) Single system ectopic ureter to rectum subtending solitary kidney and bladder agenesis in newborn male. Urology 68:1344CrossRefPubMedGoogle Scholar
  4. 4.
    Graham SD (1972) Agenesis of bladder. J Urol 107:660–661PubMedGoogle Scholar
  5. 5.
    Garat JM (1987) Malformaciones vesicales. In: Garat R, Gosálbez R (eds) Urología Pediátrica. Salvat, Barcelona, pp 287–313Google Scholar
  6. 6.
    Barrett D, Malek R, Kelalis P (1976) Observations on vesical diverticulum in childhood. J Urol 116(2):234–236PubMedGoogle Scholar
  7. 7.
    Gyftopoulos K, Wolffenbuttel KP, Nijman RJ (2002) Clinical and embryologic aspects of penile duplication and associated anomalies. Urology 60:675–679CrossRefPubMedGoogle Scholar
  8. 8.
    Frimberger DC, Kropp BP (2012) Sect. XVII, Chapter 125: Bladder anomalies in children. In: Wein AJ, Kavoussi LR et al (eds) Campbell Walsh urology, vol 4, 10th edn. WB Saunders Elsevier, Philadelphia, pp 3379–3388CrossRefGoogle Scholar
  9. 9.
    Mesrobian HGO, Zacharias A, Balcom AH, Cohen RD (1997) Ten years of experience with isolated urachal anomalies in children. J Urol 158:1316–1318CrossRefPubMedGoogle Scholar
  10. 10.
    Ashley R, Inman B et al (2001) Urachal anomalies: a longitudinal study of urachal remnants in children and adults. J Urol 178(4):1615–1618CrossRefGoogle Scholar
  11. 11.
    Schiesser M, Lapaire O, Holzgraeve W, Tercanli S (2003) Umbilical cord edema associated with patent urachus. Ultrasound Obstet Gyenecol 22:646–647CrossRefGoogle Scholar
  12. 12.
    Campanale RP, Krumbach RW (1955) Intraperitoneal perforation of infected urachal cyst. Am J Surg 90:143–145CrossRefPubMedGoogle Scholar
  13. 13.
    Iuchtman M, Rahav S, Zer M, Mogilner J, Siplovich L (1993) Management of urachal anomalies in children and adults. Urology 42:426–430CrossRefPubMedGoogle Scholar
  14. 14.
    Bauer SB (2008) Neurogenic bladder: etiology and assessment. Pediatr Nephrol 23:541–551CrossRefPubMedCentralPubMedGoogle Scholar
  15. 15.
    Steinbrecher HA, Malone PS et al (2008) Chapter 13: Neuropathic bladder. In: Thomas DFM, Duffy PG, Rickwood AMK (eds) Essentials of paediatric urology. Informa Healthcare UK Ltd., London, pp 171–187CrossRefGoogle Scholar
  16. 16.
    Danzer E, Johnson MP, Adzick NS (2012) Fetal surgery for myelomeningocele: progress and perspectives. Dev Med Child Neurol 54(1):8–14CrossRefPubMedGoogle Scholar
  17. 17.
    Szulc A (2011) Classification of patients with myelodysplasia according to the level of neurosegmental lesion as a basis of motor function assessment. Ortop Traumatol Rehabil 13(2):113–123PubMedGoogle Scholar
  18. 18.
    Frimberger D, Cheng E, Kropp BP (2012) The current management of the neurogenic bladder in children with spina bifida. Pediatr Clin North Am 59(4):757–767CrossRefPubMedGoogle Scholar
  19. 19.
    Yeung CK, Sihoe JDY, Bauer SB (2007) Chapter 123, Sect. XVII: Voiding dysfunction in children: non-neurogenic and neurogenic. In: Wein AJ, Kavoussi LR et al (eds) Campbell Walsh urology, vol 4, 9th edn. WB Saunders Elsevier, Philadelphia, pp 3625–3628Google Scholar
  20. 20.
    Edelstein RA, Bauer SB, Kelly MD et al (1996) The long-term urologic response of neonates with myelodysplasia treated proactively with intermittent catheterization and anticholinergic therapy. J Urol 154(4):1500–1504CrossRefGoogle Scholar
  21. 21.
    James CM, Lassman LP (1972) Spinal dysraphism: spina bifida occulta. Appleton, New YorkGoogle Scholar
  22. 22.
    Pierre-Kahn A, Zeral M, Renier D et al (1997) Congenital lumbosacral lipomas. Childs Nerv Syst 13:298–334CrossRefPubMedGoogle Scholar
  23. 23.
    Sarica K, Erbagci A, Yagci F, Yurtseven C (2003) Multidisciplinary evaluation of occult spinal dysraphism in 47 children. Scand J Urol Nephrol 37:329–334CrossRefPubMedGoogle Scholar
  24. 24.
    Wilmshurst JM, Kelly R, Borzyskowski M (1999) Presentation and outcome of sacral agenesis: 20 years’ experience. Dev Med Child Neurol 41:806–812CrossRefPubMedGoogle Scholar
  25. 25.
    Lancaster PAL (1987) Epidemiology of bladder exstrophy: a communication from the International Clearinghouse for Birth Defects monitoring systems. Teratology 36:221CrossRefGoogle Scholar
  26. 26.
    Cuckow P (2008) Chapter 15: Bladder exstrophy and epispadias. In: Thomas DFM, Duffy PG, Rickwood AMK (eds) Essentials of paediatric urology. Informa Healthcare UK Ltd., London, pp 199–211CrossRefGoogle Scholar
  27. 27.
    Shapiro E, Jeffs RD, Gearhart JP, Lepor H (1985) Muscarinic cholinergic receptors in bladder exstrophy: insights into surgical management. J Urol 134:309Google Scholar
  28. 28.
    Marshall VF, Muecke E (1968) Congenital abnormalities of the bladder. In: Handbuch der Urologie. Springer, New York, p 165Google Scholar
  29. 29.
    Johnston JH, Kogan SJ (1974) The exstrophic anomalies and their surgical reconstruction. Curr Probl Surg 46:1–39CrossRefGoogle Scholar
  30. 30.
    Sadler TW, Feldkamp ML (2008) The embryology of the body wall closure: relevance to gastroschisis and other ventral body wall defects. J Med Genet 148:181–185Google Scholar
  31. 31.
    Ives E, Coffey R, Carter CO (1980) A family study of bladder exstrophy. J Med Genet 17:139CrossRefPubMedCentralPubMedGoogle Scholar
  32. 32.
    Gambhir L, Höller T, Müller M et al (2008) Epidemiological survey of 214 families with bladder exstrophy-epispadias complex. J Urol 179:1539–1543CrossRefPubMedCentralPubMedGoogle Scholar
  33. 33.
    Wood HP, Trock BP, Gearhart JP (2003) In vitro fertilization and the cloacal-bladder exstrophy-epispadias complex: is there an association? J Urol 169:1512–1515CrossRefPubMedGoogle Scholar
  34. 34.
    Connolly JA, Peppas DS, Jeffs RD, Gearhart JP (1995) Prevalence in repair of inguinal hernia in children with bladder exstrophy. J Urol 154:1900CrossRefPubMedGoogle Scholar
  35. 35.
    Baradaran N, Cervellione RM, Stec AA et al (2012) Delayed primary repair of bladder exstrophy: ultimate effect on growth. J Urol 188:2336–2342CrossRefPubMedGoogle Scholar
  36. 36.
    Nerli RB, Shirol SS, Guntaka A et al (2012) Genital reconstruction in exstrophy patients. Indian J Urol 28(3):280–285CrossRefPubMedCentralPubMedGoogle Scholar
  37. 37.
    Gearhart JP, Jeffs RD (1998) The bladder exstrophy-epispadias complex. In: Walsh PC et al (eds) Campbell’s urology, 7th edn. WB Saunders, Philadelphia, p 1939Google Scholar
  38. 38.
    Bischoff A, Calvo-Garcia MA, Baregamian N et al (2012) Prenatal counseling for cloaca and cloacal exstrophy – challenges faced by pediatric surgeons. Pediatr Surg Int 28(8):781–788CrossRefPubMedCentralPubMedGoogle Scholar
  39. 39.
    Stec AA, Baradaran N, Schaeffer A et al (2012) The modern staged repair of classic bladder exstrophy: a detailed postoperative management for primary bladder closure. J Pediatr Urol 8(5):549–555CrossRefPubMedGoogle Scholar
  40. 40.
    Lloyd JC, Spano SM, Ross SS et al (2012) How dry is dry? A review of definitions of continence in the contemporary exstrophy/epispadias literature. J Urol 188(8):1900–1904CrossRefPubMedGoogle Scholar
  41. 41.
    Ansari MS, Cervellione RM, Gearhart JP (2010) Sexual function and fertility issues in cases of exstrophy epispadias complex. Indian J Urol 26(4):595–597CrossRefPubMedCentralPubMedGoogle Scholar
  42. 42.
    Ben-Chaim J, Docimo SG, Jeffs RD et al (1996) Bladder exstrophy from childhood into adult life. J R Soc Med 89(1):39–46Google Scholar
  43. 43.
    Borer JG, Retik AB (2007) Chapter 125, Sect. XVII: Hypospadias. In: Wein AJ, Kavoussi LR et al (eds) Campbell Walsh urology, vol 4, 9th edn. WB Saunders Elsevier, Philadelphia, pp 3703–3743Google Scholar
  44. 44.
    Palmert MR, Dahms WT (2006) Abnormalities of sexual differentiation. In: Fanaroff A, Martin RJ, Walsh MC (eds) Neonatal–perinatal medicine diseases of the fetus and infant, 8th edn. Mosby, Philadelphia, pp 1565–1566Google Scholar
  45. 45.
    Paulozzi LJ, Erickson JD, Jackson RJ (1997) Hypospadias trends in two US surveillance systems. Pediatrics 100:831–834CrossRefPubMedGoogle Scholar
  46. 46.
    Gray LE Jr, Ostby J, Furr J et al (2004) Toxicant-induced hypospadias in the male rat. Adv Exp Med Biol 545:217–241CrossRefPubMedGoogle Scholar
  47. 47.
    Abdullah NA, Pearce MS, Parker L et al (2007) Birth prevalence of cryptorchidism and hypospadias in northern England, 1993–2000. Arch Dis Child 92(7):576–579CrossRefPubMedCentralPubMedGoogle Scholar
  48. 48.
    Weidner IS, Moller H, Jensen TK, Skakkebaek NE (1999) Risk factors for cryptorchidism and hypospadias. J Urol 161:1606–1609CrossRefPubMedGoogle Scholar
  49. 49.
    Cox MJ, Coplen DE, Austin PF (2008) The incidence of disorders of sexual differentiation and chromosomal abnormalities of cryptorchidism and hypospadias stratified by meatal location. J Urol 180:2649–2652CrossRefPubMedGoogle Scholar
  50. 50.
    Snodgrass WT, Shukla AR, Canning DA (2007) Chapter 71, Sect. VI: Hypospadias. In: Docimo SG, Canning DA, Khoury AE (eds) Kelalis-King-Belman textbook of pediatric urology, 5th edn. Informa Healthcare UK Ltd., London, pp 1205–1238Google Scholar
  51. 51.
    Schultz JR, Klykylo WM, Wacksman J (1983) Timing of elective hypospadias repair in children. Pediatrics 71:342PubMedGoogle Scholar
  52. 52.
    Kolon TF (2007) Chapter 74, Sect. VI: Cryptorchidism. In: Docimo SG, Canning DA, Khoury AE (eds) Kelalis-King-Belman textbook of pediatric urology, 5th edn. Informa Healthcare UK Ltd., London, pp 1295–1301Google Scholar
  53. 53.
    Virtanen HE, Cortes D et al (2007) Development and descent of the testis in relation to cryptorchidism. Acta Paediatr 96:622–627CrossRefPubMedGoogle Scholar
  54. 54.
    Tasian GE et al (2011) Diagnostic imaging in cryptorchidism: utility, indications and effectiveness. J Pediatr Surg 46(12):2406–2413CrossRefPubMedCentralPubMedGoogle Scholar
  55. 55.
    Barthold JS (2012) Chapter 132, Sect. XVII: Abnormalities of the testis and scrotum and their management. In: Wein AJ, Kavoussi LR et al (eds) Campbell Walsh urology, vol 4, 10th edn. WB Saunders Elsevier, Philadelphia, pp 3557–3596CrossRefGoogle Scholar
  56. 56.
    Clarke S (2010) Pediatric inguinal hernia and hydrocele: an evidence-based review in the era of minimal access surgery. J Laparoendosc Adv Surg Tech A 20(3):305–309CrossRefPubMedGoogle Scholar
  57. 57.
    Lau ST, Lee YH, Caty MG (2007) Current management of hernias and hydroceles. Semin Pediatr Surg 16(1):50–57CrossRefPubMedGoogle Scholar
  58. 58.
    Ringert RH (1998) The acute scrotum. Z Arztl Fortbild Qualitatssich 92(5):343–348PubMedGoogle Scholar
  59. 59.
    Heikkla J, Taskinen S et al (2008) Posterior urethral valves are often associated with cryptorchidism and inguinal hernias. J Urol 180(2):715–717CrossRefGoogle Scholar
  60. 60.
    Luo CC, Chao HC (2007) Prevention of unnecessary contralateral exploration using the silk glove sing (SGS) in pediatric patients with unilateral inguinal hernia. Eur J Pediatr 166(7):667–669CrossRefPubMedGoogle Scholar
  61. 61.
    Vogels HD, Bruijnen CJ, Beasley SW (2009) Predictors of recurrence after inguinal herniotomy in boys. Pediatr Surg Int 25(3):235–238CrossRefPubMedGoogle Scholar
  62. 62.
    Dutta S, Albanese C (2009) Transcutaneous laparoscopic hernia repair in children: a prospective review of 275 hernia repairs with minimum 2-year follow-up. Surg Endosc 23(1):103–107CrossRefPubMedGoogle Scholar
  63. 63.
    Wang KS (2012) Assessment and management of inguinal hernia in infants. Pediatrics 130(4):768–773CrossRefPubMedGoogle Scholar
  64. 64.
    Safarinejad MR (2008) Infertility among couples in a population-based study in Iran: prevalence and associated risk factors. Int J Androl 31(3):303–314CrossRefPubMedGoogle Scholar
  65. 65.
    Diegidio P, Jhaveri JK, Ghannam S et al (2011) Review of current varicocelectomy techniques and their outcomes. BJU Int 108(7):1157–1172CrossRefPubMedGoogle Scholar
  66. 66.
    Ficarra V, Crestani A, Novara G et al (2012) Varicocele repair for infertility: what is the evidence? Curr Opin Urol 22(6):489–494CrossRefPubMedGoogle Scholar
  67. 67.
    Zhao LC, Lautz TB, Meeks JJ et al (2011) Pediatric testicular torsion epidemiology using a national database: Incidence, risk of orchiectomy and possible measures toward improving the quality of care. J Urol 186(5):2009–2013CrossRefPubMedGoogle Scholar
  68. 68.
    Caesar RE, Kaplan GW (1994) Incidence of the Bell-clapper deformity in an autopsy series. J Urol 44(1):114–116CrossRefGoogle Scholar
  69. 69.
    Schenck FX, Bellinger MF (2007) Chapter 127, Sect. XVII: Abnormalities of the testes and scrotum and their surgical management. In: Wein AJ, Kavoussi LR, Novick AC, Partin AW, Peters CA (eds) Campbell Walsh urology, vol 4, 9th edn. WB Saunders Elsevier, Philadelphia, pp 3776–3781Google Scholar
  70. 70.
    Sandor L, Gajda T, Aranyi V et al (2011) Role of ultrasonography in the urgent differential diagnosis of acute scrotum. Orv Hetil 152(23):909–1012CrossRefPubMedGoogle Scholar
  71. 71.
    Wu H, Snyder HM (2007) Sect. VI, Chapter 68: Intersex. In: Docimo SG, Canning DA, Khoury AE (eds) Kelalis-King-Belman textbook of pediatric urology, 5th edn. Informa Healthcare UK Ltd., London, pp 1147–1160Google Scholar
  72. 72.
    Lottman H, Thomas DFM (2008) Chapter 20: Disorders of sex development. In: Thomas DFM, Duffy PG, Rickwood AMK (eds) Essentials of paediatric urology. Informa Healthcare UK Ltd., London, pp 275–293CrossRefGoogle Scholar
  73. 73.
    Lee P, Schober J, Nordenstrom A et al (2012) Review of recent outcome data of disorders of sex development (DSD): emphasis on surgical and sexual outcomes. J Pediatr Urol 8(6):611–615CrossRefPubMedGoogle Scholar
  74. 74.
    Guerra-Junior G, Latronico AC, Hiort O et al (2012) Disorders of sex development and hypogonadism: genetics, mechanism, and therapies. Int J Endocrinol 2012: 820373Google Scholar
  75. 75.
    Romao RL, Pippi Salle JL, Wherrett DK (2012) Update on the management of disorders of sex development. Pediatr Clin North Am 59(4):853–869CrossRefPubMedGoogle Scholar
  76. 76.
    Massanyi EZ, Dicarlo HN, Miqeon CJ et al (2013) Review and management of 46 XY disorders of sex development. J Pediatr Urol 9:368–379CrossRefPubMedGoogle Scholar
  77. 77.
    Hughes IA (2008) Disorders of sex development: a new definition and classification. Best Pract Res Clin Endocrinol Metab 22:119–134CrossRefPubMedGoogle Scholar
  78. 78.
    Chavhan GB, Parra DA, Oudjhane K et al (2008) Imaging of ambiguous genitalia: classification and diagnostic approach. Radiographics 28(7):1891–1904CrossRefPubMedGoogle Scholar
  79. 79.
    Josso N, Audi L, Shaw G (2011) Regional variations in the management of testicular or ovotesticular disorders of sex development. Sex Dev 5(5):225–234CrossRefPubMedGoogle Scholar
  80. 80.
    Barthold JS (2011) Disorders of sex differentiation: a pediatric urologist’s perspective of new terminology and recommendations. J Urol 185(2):393–400CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  1. 1.Division of UrologyUniversity of KYLexingtonUSA
  2. 2.Pediatric UrologyUniversity of Kentucky Medical CenterLexingtonUSA

Personalised recommendations