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Congenital Abnormalities

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Female Pelvic Reconstructive Surgery

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Abstract

Anatomic gynecologic anomalies including congenital absence of the vagina, defects in lateral and vertical fusion of the müllerian ducts, as well as disorders of sexual development, occur with surprising frequency in referral practices of reproductive endocrinology and genitourinary surgery. This section serves to review the embryology and development of the reproductive system and to describe common genital tract anomalies. Details of surgical or nonsurgical correction of these anomalies are presented. Obstetrical, gynecologic, and urologic consequences of these defects are described.

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References

  1. Haqq CM, King C-Y, Ukiyama E et al. (1994) Molecular basis of mammalian sexual determination: activation of mul- lerian inhibiting substance gene expression by SRY. Science 266: 1494.

    Article  PubMed  CAS  Google Scholar 

  2. Parker KL, Schimmer BP (1996) The roles of the nuclear receptor steroidogenic factor 1 in endocrine differentiation and development. Trends Endocrinol Metab 7: 203.

    Article  PubMed  CAS  Google Scholar 

  3. Sadovsky Y, Crawford PA (1998) Developmental and physiologic roles of the nuclear receptor steroidogenic factor-1 in the reproductive system. J Soc Gynecol Invest 5: 6.

    Article  CAS  Google Scholar 

  4. Swain A, Narvaez V, Burgoyne P, Camerino G, Lovell-Badge R (1998) Daxl antagonizes Sry action in mammalian sex determination. Nature 39: 761.

    Google Scholar 

  5. Larsen WJ (1993) Human Embryology. Churchill Livingstone, New York.

    Google Scholar 

  6. Langman J (1975) Medical Embryology. Williams & Wilkins, Baltimore, MD.

    Google Scholar 

  7. Lee MM, Donahoe PK (1993) Mullerian inhibiting substance: a gonadal hormone with multiple functions. Endo Rev 14: 152.

    CAS  Google Scholar 

  8. Gustafson ML, Lee MM, Asmundson L, MacLaughlin DT, Donahoe PK (1993) Mullerian inhibiting substance in the diagnosis and management of intersex and gonadal abnormalities. J Ped Surg 28: 439.

    Article  CAS  Google Scholar 

  9. Edman CD, Winters AJ, Porter JC, Wilson J, MacDonald PC (1977) Embryonic testicular regression: A clinical spectrum of XY agonadal individuals. Obstet Gynecol 49: 208.

    PubMed  CAS  Google Scholar 

  10. Wilson JD, George FW, Griffin JE (1981) The hormonal control of sexual development. Science 211: 1278.

    Article  PubMed  CAS  Google Scholar 

  11. Rock JA (1986) Anomalous development of the vagina. Semin Reprod Endocrinol 4: 13.

    Article  Google Scholar 

  12. Thompson JD, Rock JA (1992) Te Linde’s Operative Gynecology, 7th edn. Lippincott, Philadelphia.

    Google Scholar 

  13. Lindenman E, Shepard MK, Pescovitz OH (1997) Mullerian agenesis: an update. Obstet Gynecol 90: 307.

    Article  PubMed  CAS  Google Scholar 

  14. Reinhold C, Hricak H, Forstner R et al. (1997) Primary amenorrhea: evaluation with MR imaging. Radiology 203: 383.

    PubMed  CAS  Google Scholar 

  15. Togashi K, Nishimura K, Itoh K et al. (1987) Vaginal agenesis: classification by MR imaging. Radiology 162: 675.

    PubMed  CAS  Google Scholar 

  16. Taylor HS, Vanden Heuvel GB, Igarashi P (1997) A conserved Hox axis in the mouse and human female reproductive system; late establishment and persistent adult expression of the Hoxa cluster genes. Biol Reprod 57: 1338.

    Article  PubMed  CAS  Google Scholar 

  17. Warot X, Fromental-Ramain C, Fraulob V, Chambon P, Dolle P (1997) Gene dosage-dependent effects of the hoxa-13 and hoxd-13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts. Development 124: 4781.

    PubMed  CAS  Google Scholar 

  18. Stelling JR, Bhagavath B, Gray MR, Reindollar RH (1997) Hoxal3 homeodomain mutation analysis in patients with mullerian system anomalies. Abstract. Society for Gynecologic Investigation, 1997, Atlanta GA, p. 140A.

    Google Scholar 

  19. Frank RT (1938) The formation of an artificial vagina without operation. Am J Obstet Gynecol 35: 1053.

    Google Scholar 

  20. WabrekAJ, Millard R, Wilson WB, Pion RJ (1971) Creation of a neovagina by the Frank nonoperative method. Obstet Gynecol 37: 408.

    Google Scholar 

  21. Ingram JM (1981) The bicycle seat stool in the treatment of vaginal agenesis and stenosis: a preliminary report. Am J Obstet Gynecol 140: 867.

    PubMed  CAS  Google Scholar 

  22. Mclndoe A (1950) The treatment of congenital absence and obliterative conditions of the vagina. Br J Plast Surg 2: 254.

    Google Scholar 

  23. Wheeless CR, Parker J (1997) Atlas of Pelvic Surgery. Williams & Wilkins, Baltimore, MD.

    Google Scholar 

  24. Rock JA, Murphy AA, Jones HW Jr (1992) Female Repro¬ductive Surgery. Williams & Wilkins, Baltimore, Md.

    Google Scholar 

  25. Jackson ND, Rosenblatt PL (1994) Use of interceed absorbable adhesion barrier for vaginoplasty. Obstet Gynecol 84: 1048.

    PubMed  CAS  Google Scholar 

  26. Wenof M, Reynick JV, Novendstern J, Castadot MJ (1979) Transverse vaginal septum. Obstet Gynecol 54: 61.

    Article  Google Scholar 

  27. Rock JA, Jones HW Jr (1984) Vaginal forms for dilatation and/or to maintain vaginal patency. Fertil Steril 42: 187.

    PubMed  CAS  Google Scholar 

  28. Pena A (1997) Total urogenital mobilization-an easier way 53. to repair cloacas. J Pediatr Surg 32: 263 – 7.

    Article  PubMed  CAS  Google Scholar 

  29. Rock JA, Zacur HA, Dlugi AM, Jones HW Jr (1982) 54. Pregnancy success following surgical correction of imperforate hymen and complete transverse vaginal septum. Obstet Gynecol 59: 448.

    Google Scholar 

  30. Markham SM, Parley TH, Murphy AA, Huggins GR, Rock JA (1987) Cervical agenesis combined with vaginal agenesis diagnosed by magnetic resonance imaging. Fertil Steril 48: 56. 143.

    PubMed  CAS  Google Scholar 

  31. Rock JA, Schlaff WD, Zacur HA, Jones HW Jr (1984) The 57. clinical management of congenital absence of the uterine cervix. Int J Gynaecol Obstet 22: 231.

    Article  PubMed  CAS  Google Scholar 

  32. Rock JA, Jones HW Jr (1980) The double uterus asociated with an obstructed hemivagina and ipsilateral renal agene- 58. sis. Am J Obstet Gynecol 138: 339.

    PubMed  CAS  Google Scholar 

  33. Gant NF, Cunningham FG (1993) Basic Gynecology and Obstetrics. Appleton and Lange, Norwalk, CT.

    Google Scholar 

  34. Daly DC, Walters CA, Soto-Albors CE, Riddick DH (1983) Hysteroscopic metroplasty: surgical technique and obstetrical outcome. Fertil Steril 39: 623.

    PubMed  CAS  Google Scholar 

  35. Israel R, March GM (1984) Hysteroscopic incision of the septate uterus. Am J Obstet Gyencol 149:

    Google Scholar 

  36. Fedele L, Arcaini L, Parazzini F, Vercellini P, Di Nola G (1993) Reproductive prognosis after hysteroscopic metroplasty in 62. 102 women: life-table analysis. Fertil Steril 59: 768.

    CAS  Google Scholar 

  37. McShane PM, Reilly FJ, Schiff I (1983) Pregnancy outcomes 63. following Tompkins metroplasty. Fertil Steril 40: 190.

    PubMed  CAS  Google Scholar 

  38. Muasher JJ, Acosta AA, Garcia JE, Rosenwaks Z, Jones HW (1954)Wedge metroplasty for the septate uterus: an update. 64. Fertil Steril 42:515.

    Google Scholar 

  39. Goldenberg M, Sivan E, Sharabi Z, Mashiach S, Lipitz S 65. (1995) Seidman DS. following hysteroscopic management of intrauterine septum and adhesions. Hum Reprod 10: 2663.

    PubMed  CAS  Google Scholar 

  40. Cararach M, Penella J, Ubeda A, Labastida R (1994) Hysteroscopic incision of the septate uterus: scissors versus 66. resectoscope. Hum Reprod 9: 97.

    Google Scholar 

  41. Baggish MS, Barbot J, Valle RF (1993) Diagnostic and 67. Operative Hysteroscopy: A Text and Atlas. Year Book Medical Publishers, Chicago, IL

    Google Scholar 

  42. Chantilis SJ, Bradshaw KD (1994) Clinical and molecular 68. aspects of steroidogenic enzyme deficiencies. Infertil Clin North Am 5: 81.

    Google Scholar 

  43. Sanfilippo JS, Muram D, Lee PA, Dewhurst J (eds) (1994) 69. Pediatric and Adolescent Gynecology. WB Saunders, Philadelphia, PA.

    Google Scholar 

  44. McPhaul MJ, Marcelli M, Zoppi S, Griffin JE, Wilson JD 70. (1993) The spectrum of mutations in the androgen receptor gene that causes androgen resistance. J Clin Endocrinol Metab 76: 17.

    Article  PubMed  CAS  Google Scholar 

  45. Mulkaikal RM, Migeon CJ, Rock JA (1987) Fertility rates in 71. female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med 316: 178.

    Article  Google Scholar 

  46. Money J, Norman BF (1987) Gender identity and gender 72. transposition: Longitudinal outcome study of 24 male hermaphrodites assigned as boys. J Sex Marital Ther 13: 75.

    PubMed  CAS  Google Scholar 

  47. Rickwood AMK, Thomas DG, Spicer RD (1982) Assessment of congenital neuropathic bladder by combined urodynamic 73. and radiological studies. Br J Urol 54: 512 – 18.

    Article  PubMed  CAS  Google Scholar 

  48. Mundy AR, Shah PJR, Borzyskowski M, Saxton HM (1955)Sphincter behaviour in myelomeningocele. Br J Urol 74. 57: 647–51.

    Google Scholar 

  49. Williams DI, Snyder H (1976) Anterior detrusor tube repair for urinary incontinence in children. Br J Urol 48: 671 – 7.

    Article  PubMed  CAS  Google Scholar 

  50. Hendren WH (1980) Construction of the female urethra from the vaginal wall and perineal flap. J Urol 123: 657 – 64.

    PubMed  CAS  Google Scholar 

  51. Young HH (1919) An operation for the cure of incontinence 76. of urine. Surg Gynaecol Obstet 28: 24 – 90.

    Google Scholar 

  52. Dees JE (1949) Congenital epispadias and incontinence. J Urol 62: 513 – 20.

    PubMed  CAS  Google Scholar 

  53. Leadbetter GW (1964) Surgical correction of total urinary incontinence. J Urol 91: 738 – 45.

    Google Scholar 

  54. Lepor H, Jeffs RD (1983) Primary bladder closure and bladder neck reconstruction in males with bladder exstrophy. J Urol 130: 1142 – 5.

    PubMed  CAS  Google Scholar 

  55. Mitrofanoff P (1980) Cystostomic continente trans appendiculair dans le traitement des vesies neurologiques. Chir Paediatr 21: 297 – 305.

    CAS  Google Scholar 

  56. McGuire EJ, Wang C, Usitaki H (1986) Modified pubovaginal sling in girls with myelodysplasia. J Urol 135: 94 – 6.

    PubMed  CAS  Google Scholar 

  57. Freedman ER, Singh G, Donnell SC, Rickwood AMK, Thomas DG (1994) Combined bladder neck suspension and augmentation cystoplasty for neuropathic incontinence in female patients. Br J Urol 73: 621 – 4.

    Article  PubMed  CAS  Google Scholar 

  58. Pippi Salle JL, Fraga JCS de Aramante A et al. (1994) Urethral lengthening with anterior bladder wall flap for urinary incontinence: a new approach. J Urol 152: 803 – 6.

    Google Scholar 

  59. Rickwood AMK, Thomas DG, Philip NH (1983) Long-term catheterisation for congenital neuropathic bladder. Arch Dis Child 58: 111 – 16.

    Article  Google Scholar 

  60. Stephens FD, Smith ED (1986) Classification. Ped Surg Int 1: 200 – 5.

    Google Scholar 

  61. Stephens FD (1953) Imperforate rectum: A new surgical technique. Med J Aus 1: 202 – 6.

    CAS  Google Scholar 

  62. Vries PA De, Pena A (1982) Posterior sagittal anorectoplasty. J Ped Surg 17: 638 – 43.

    Article  Google Scholar 

  63. Nixon HH (1971) Nixon’s operation for ectopic anus. In: Ano-rectal malformation in children. Eds Stephen FD and Smith ED. Year Book Medical Publishers, Inc. Chicago, p 269.

    Google Scholar 

  64. Pena A (1995) Anorectal malformations. Semin Pediatr Surg 4: 35 – 47.

    PubMed  CAS  Google Scholar 

  65. Bliss DP Jr, Tapper D, Anderson JM et al. (1996) Does posterior sagittal anorectoplasty in patients with high imperforate anus provide superior fecal continence? J Ped Surg 31: 26 – 30.

    Article  Google Scholar 

  66. Langemeijer RA, Molenaar JC (1991) Continence after posterior sagittal anorectoplasty. J Ped Surg 26: 587 – 90.

    Article  CAS  Google Scholar 

  67. Rintala RJ, Lindahl HG, Rasenen M (1997) Do children with repaired low anorectal malformations have normal bowel function? J Ped Surg 32: 823 – 6.

    Article  CAS  Google Scholar 

  68. Rintala RJ, Lindahl HG (1995) Is normal bowel function possible after repair of intermediate and high anorectal malformations? J Ped Surg 30: 491 – 4.

    Article  CAS  Google Scholar 

  69. Rintala R, Mildh L, Lindahl H (1992) Feacal continence and quality of life in adult patients with an operated low anorectal malformation. J Ped Surg 27: 902 – 5.

    Article  CAS  Google Scholar 

  70. Hassink EA, Rieu PN, Severijnen RS et al (1993) Are adults content or continent after repair for high anal atresia? A long term follow-up study in patients 18 years old or older. Ann Surg 218: 196 – 200.

    Article  PubMed  CAS  Google Scholar 

  71. Rintala R, Mildh L, Lindahl H (1994) Fecal continence and quality of life for adult patients with an operated high or intermediate anorectal malformation. J Ped Surg 29: 777 – 80.

    Article  CAS  Google Scholar 

  72. Hassink EA, Rieu PN, Brugnan AT et al. (1994) Quality of life after operatively corrected high anorectal malformation: a long term follow-up study in patients aged 18 years and older. J Ped Surg 29: 773 – 6.

    Article  CAS  Google Scholar 

  73. Rintala R, Lindahl H, Louhimo I (1991) Anorectal malormations-Results of treatment and long term follow-up in 208 patients. Ped Surg Int 6: 36 - 41.

    Article  Google Scholar 

  74. Rintala R, Lindahl H, Marttinen E et al. (1993) Constipation is a major functional complication after internal sphincter saving posterior anorectoplasty for high and intermediate anorectal malformations. J Ped Surg 28: 1054 – 8.

    Article  CAS  Google Scholar 

  75. Rintala R, Marttinen E, Virkola K et al. (1997) Segmental colonic motility in patients with anorectal malformations. J Ped Surg 32: 453 – 6.

    Article  CAS  Google Scholar 

  76. Rintala R, Lindahl H, Rasanen M (1997) Do children with low anorectal malformations have normal bowel function? J Ped Surg 32: 823 – 6.

    Article  CAS  Google Scholar 

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Authors
  1. Karen D. Bradshaw
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Editors and Affiliations

  1. Department of Obstetrics and Gynaecology, St. George’s Hospital Medical School, London, UK

    Stuart L. Stanton FRCS, FRCOG, FRANZCOG (Hon)

  2. Department of Urology, Southwestern Medical Center at Dallas, Dallas, Texas, USA

    Philippe E. Zimmern MD, FACS

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© 2003 Springer-Verlag London Limited

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Bradshaw, K.D. (2003). Congenital Abnormalities. In: Stanton, S.L., Zimmern, P.E. (eds) Female Pelvic Reconstructive Surgery. Springer, London. https://doi.org/10.1007/978-1-4471-0659-3_4

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  • DOI: https://doi.org/10.1007/978-1-4471-0659-3_4

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-85233-362-1

  • Online ISBN: 978-1-4471-0659-3

  • eBook Packages: Springer Book Archive

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