Skip to main content
SpringerLink
Log in

Diagnosis and Treatment of Genital Malformations in Infancy and Adolescence

  • Chapter
  • First Online:
Good Practice in Pediatric and Adolescent Gynecology

  • 999 Accesses

Abstract

Genital malformations range from congenital absence of the vagina and uterus, to defects in lateral or vertical fusion of the Müllerian ducts, and to the formation of external genitalia that are ambiguous in sexual differentiation.

They occur quite frequently in infancy and adolescence, though prevalence rates vary depending on the classification system, the diagnostic method used, and the population evaluated (patients at the time of obstetric delivery, patients with a history of infertility, or patients with habitual miscarriages).

In most cases, the etiology is largely unknown: genital malformations may result from genetic mutations, developmental arrest (caused by intrauterine or extrauterine factors), or environmental insults. They may also be included in multiple malformation syndromes due to the intertwined development of genital and urinary systems.

Nowadays, the most widely accepted classification is the ASRM (American Society for Reproductive Medicine) classification system, that organizes genital malformations into seven groups on the basis of the degree of failure of Müllerian development and fusion.

The diagnosis of genital malformations, originally based on invasive procedures (laparoscopy and hysteroscopy), currently makes a great use of US, as initial examination, and MRI, for complicated cases, that are considered the gold standards.

The aim of this chapter is to define and describe all the different types of genital malformation and to deepen their diagnostic tools and treatment options.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 54.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 69.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 99.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Abbreviations

AFS:

American Fertility Society

AMH:

Antimüllerian hormone

ASRM:

American Society for Reproductive Medicine

DES:

Diethylstilbestrol

ESHRE/ESGE:

European Society of Human Reproduction and Embryology/European Society of Gynaecological Endoscopy

GnRH analogues:

Gonadotropin-releasing hormone analogues

IVF:

In vitro fertilization

MIF:

Müllerian inhibitory factor

MRI:

Magnetic resonance imaging

MRKHS:

Mayer–Rokitansky–Küster–Hauser syndrome

MURCS:

Müllerian renal cervical somite

OHVIRA:

Obstructed hemivagina and ipsilateral renal anomaly

PID:

Pelvic inflammatory disease

TVS:

Transverse vaginal septum

US:

Ultrasonography

2D-US:

Two-dimensional ultrasonography

3D-US:

Three-dimensional ultrasonography

VCUAM:

Vagina, cervix, uterus, and adnexa-associated malformation

References

  1. Rock JA. Surgery for anomalies of the Müllerian ducts. In: Rock JA, Thompson JD, editors. TeLinde’s operative gynecology. 8th ed. Philadelphia: Lippincott-Raven Publishers; 1997. p. 687–729.

    Google Scholar 

  2. Gray S, Skandalakis J. Embriology for the surgeons. Philadelphia: WB Saunders; 1972. p. 633–64.

    Google Scholar 

  3. Moore KL. The urogenital system. In: The developing human: clinical orientated embryology. Philadelphia: WB Saunders; 1977. p. 347.

    Google Scholar 

  4. Healey A. Embryology of the female reproductive tract. In: Mann GS, Blai JC, Garden AS, editors. Imaging of gynecological disorders in infants and children. Berlin: Springer; 2012. p. 21–30.

    Google Scholar 

  5. Marshall FF, Beisel DS. The association of uterine and renal anomalies. Obstet Gynecol. 1978;51(5):559–62.

    Article  CAS  PubMed  Google Scholar 

  6. Stelling JR, Gray MR, Reindollar R. Endocrinology and molecular biology of the female genital tract in utero to puberty. In: Gidwani G, Falcone T, editors. Congenital malformations of the female genital tract: diagnosis and management. Philadelphia: Lippincott Williams & Wilkins; 1999. p. 21–40.

    Google Scholar 

  7. Taylor HS. The role of HOX genes in the development and function of the female reproductive tract. Semin Reprod Endocrinol. 2000;18:81–9.

    Article  CAS  Google Scholar 

  8. Jordan BK, Mohammed M, Ching ST, et al. Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans. Am J Hum Genet. 2001;68:1102–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Simòn C, Martinez L, Pardo F, et al. Mullerian defects in women with normal reproductive outcome. Fertil Steril. 1991;56:1192–3.

    Article  PubMed  Google Scholar 

  10. Lin P, Bhatnagar K, Nettleton S, et al. Female genital anomalies affecting reproduction. Fertil Steril. 2002;78:899–915.

    Article  PubMed  Google Scholar 

  11. March CM. Müllerian anomalies. Fertility news 24/1. Endocr Fert Forum. 1990;13:1.

    Google Scholar 

  12. Chan YY, Jayaprakasan K, Zamora J, et al. The prevalence of congenital uterine anomalies in unselected and high-risk populations: a systematic review. Hum Reprod Update. 2011;17:761–71.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Acièn P. Incidence of Mullerian defects in fertile and infertile women. Hum Reprod. 1997;12:1372–6.

    Article  PubMed  Google Scholar 

  14. Grimbizis GF, Camus M, Tarlatzis BC, Bontis JN, Devroey P. Clinical implications of uterine malformations and hysteroscopic treatment results. Hum Reprod Update. 2001;7:161–74.

    Article  CAS  PubMed  Google Scholar 

  15. Strassmann P. Die operative Vereinigung eines doppelten uterus. Zentralbl Gynakol. 1907;43:1322–35.

    Google Scholar 

  16. Buttram VC Jr, Gibbons WE. Müllerian anomalies: a proposed classification (an analysis of 144 cases). Fertil Steril. 1979;32:40–6.

    Article  PubMed  Google Scholar 

  17. The American Fertility Society classifications of adnexal adhesions, distal tubal occlusion, tubal occlusion secondary to tubal ligation, tubal pregnancies, Müllerian anomalies and intrauterine adhesions. Fertil Steril. 1988;49:944–55.

    Google Scholar 

  18. Toaff ME, Lev-Toaff AS, Toaff R. Communicating uteri: review and classification with introduction of two previously unreported types. Fertil Steril. 1984;41:661–79.

    Article  CAS  PubMed  Google Scholar 

  19. Troiano RN, McCarthy SM. Müllerian duct anomalies: imaging and clinical issues. Radiology. 2004;233:19–34.

    Article  PubMed  Google Scholar 

  20. Acièn P, Acièn M, Sanchez-Ferrer M. Complex malformations of the female genital tract. New types and revision of classification. Hum Reprod. 2004;19:2377–84.

    Article  PubMed  Google Scholar 

  21. Oppelt P, Renner SP, Brucker S, et al. The VCUAM (vagina cervix uterus adnex-associated malformation) classification: a new classification for genital malformations. Fertil Steril. 2005;84:1493–7.

    Article  PubMed  Google Scholar 

  22. Grimbizis GF, Gorkts S, Di Spiezio Sardo A, et al. The ESHRE/ESGE consensus on the classification of female genital tract congenital anomalies. Hum Reprod. 2013;28:2032–44.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  23. Bacsko G. Hysteroscopy for vaginoscopy in pediatric gynecology. Adolesc Pediatr Gynecol. 1994;7:221–2.

    Article  Google Scholar 

  24. Nussbaum Blask AR, Sanders RC, Gearhart JP. Obstructed uterovaginal anomalies: demonstration with sonography. Part I. Neonates and infants. Radiology. 1991;179:79–83.

    Article  Google Scholar 

  25. Nussbaum Blask AR, Sanders RC, Rock JA. Obstructed uterovaginal anomalies: demonstration with sonography. Part II. Teenagers. Radiology. 1991;179:84–8.

    Article  Google Scholar 

  26. Nicolini U, Bellotti M, Bonazzi B, et al. Can ultrasound be used to screen uterine malformations? Fertil Steril. 1987;47:89–93.

    Article  CAS  PubMed  Google Scholar 

  27. Olpin JD, Heilbrun M. Imaging of Müllerian duct anomalies. Clin Obstet Gynecol. 2009;52:40–56.

    Article  PubMed  Google Scholar 

  28. Ghi T, Casadio P, Kuleva M, et al. Accuracy of three-dimensional ultrasound in diagnosis and classification of congenital uterine anomalies. Fertil Steril. 2009;92:808–13.

    Article  PubMed  Google Scholar 

  29. Graupera B, Pascual MA, Hereter L, et al. Accuracy of three-dimensional ultrasound compared with magnetic resonance imaging in diagnosis of Müllerian duct anomalies using ESHRE–ESGE consensus on the classification of congenital anomalies of the female genital tract. Ultrasound Obstet Gynecol. 2015;46:616–22.

    Article  CAS  PubMed  Google Scholar 

  30. Bermejo C, Martinez Ten P, Cantarero R. Three dimensional ultrasound in the diagnosis of Müllerian duct anomalies and concordance with magnetic resonance imaging. Ultrasound Obstet Gynecol. 2010;35:593–601.

    Article  CAS  PubMed  Google Scholar 

  31. Minto CL, Hollings N, Hall-Craggs MA, et al. Magnetic resonance imaging of complex Müllerian anomalies. Br J Obstet Gynaecol. 2001;108:791–7.

    CAS  Google Scholar 

  32. Breech LL, Laufer ML. Obstructive anomalies of the female reproductive tract. J Reprod Med. 1999;44:233–40.

    CAS  PubMed  Google Scholar 

  33. Stelling JR, Gray MR, Davis AJ, et al. Dominant transmission of imperforate hymen. Fertil Steril. 2000;74:1241–4.

    Article  CAS  PubMed  Google Scholar 

  34. Usta IM, Awwad JT, Usta JA. Imperforate hymen: report of an unusual familial occurrence. Obstet Gynecol. 1993;82:655–6.

    CAS  PubMed  Google Scholar 

  35. Winderl LM, Silverman RK. Prenatal diagnosis of congenital imperforate hymen. Obstet Gynecol. 1995;855:857–60.

    Article  Google Scholar 

  36. Dubinskaya A, Gomez-Lobo V. Obstructive anomalies of the reproductive tract. Postgrad Obstet Gynecol. 2015;35:1–8.

    Article  Google Scholar 

  37. Patel V, Gomez-Lobo V. Obstructive anomalies of the gynecologic tract. Curr Opin Obstet Gynecol. 2016;28:339–44.

    Article  PubMed  Google Scholar 

  38. Robson S, Oliver GD. Management of vaginal agenesis: review of 10 years practice at a tertiary referral centre. Aust N Z J Obstet Gynaecol. 2000;40:430–3.

    Article  CAS  PubMed  Google Scholar 

  39. Dietrich JE, Millar DM, Quint EH. Obstructive reproductive tract anomalies. J Pediatr Adolesc Gynecol. 2014;27(6):396–402.

    Article  PubMed  Google Scholar 

  40. Laufer MR. Congenital absence of the vagina: in search of the perfect solution. When, and by what technique, should a vagina be created? Curr Opin Obstet Gynecol. 2002;14:441–4.

    Article  PubMed  Google Scholar 

  41. Miller RJ, Breech LL. Surgical correction of vaginal anomalies. Clin Obstet Gynecol. 2008;51:223–36.

    Article  PubMed  Google Scholar 

  42. Suganuma N, Furuhashi M, Moriwaki T, et al. Management of missed abortion in a patient with congenital cervical atresia. Fertil Steril. 2002;77:1071–3.

    Article  PubMed  Google Scholar 

  43. Rock JA, Roberts CP, Jones HWJ. Congenital anomalies of the uterine cervix: lessons from 30 cases managed clinically by a common protocol. Fertil Steril. 2010;94:1858–63.

    Article  PubMed  Google Scholar 

  44. Fujimoto VY, Miller JH, Klein NA, et al. Congenital cervical atresia: report of seven cases and review of the literature. Am J Obstet Gynecol. 1997;177:1419–25.

    Article  CAS  PubMed  Google Scholar 

  45. Letterie GS. Combined congenital absence of the vagina and cervix. Diagnosis with magnetic resonance imaging and surgical management. Gynecol Obstet Invest. 1998;46:65–7.

    Article  CAS  PubMed  Google Scholar 

  46. Niver DH, Barrette G, Jewelewicz R. Congenital atresia of the uterine cervix and vagina: three cases. Fertil Steril. 1980;33:25–9.

    Article  CAS  PubMed  Google Scholar 

  47. Farber M, Marchant D. Congenital absence of the uterine cervix. Am J Obstet Gynecol. 1975;121:414–7.

    Article  CAS  PubMed  Google Scholar 

  48. Rotter CW. Surgical correction of congenital atresia of the cervix. Am J Obstet Gynecol. 1958;76:643–6.

    Article  CAS  PubMed  Google Scholar 

  49. Iversen S. Congenital atresia of the uterine cervix. Nord Med. 1966;75:41–2.

    CAS  PubMed  Google Scholar 

  50. Zarou GS, Acken HS, Brevetti RC. Surgical management of congenital atresia of the cervix. Am J Obstet Gynecol. 1961;82:923–8.

    Article  CAS  PubMed  Google Scholar 

  51. Deffarges JV, Haddad B, Musset R, et al. Utero-vaginal anastomosis in women with uterine cervix atresia: long-term follow-up and reproductive performance. A study of 18 cases. Hum Reprod. 2001;16:1722–5.

    Article  CAS  PubMed  Google Scholar 

  52. Chakravarty B, Konar H, Chowdhury NN. Pregnancies after reconstructive surgery for congenital cervicovaginal atresia. Am J Obstet Gynecol. 2000;183:421–3.

    Article  CAS  PubMed  Google Scholar 

  53. Fedele L, Bianchi S, Frontino G, et al. Laparoscopically assisted uterovestibular anastomosis in patients with uterine cervix atresia and vaginal aplasia. Fertil Steril. 2008;89:212–6.

    Article  PubMed  Google Scholar 

  54. Heinonen PK. Unicornuate uterus and rudimentary horn. Fertil Steril. 1997;68:224–30.

    Article  CAS  PubMed  Google Scholar 

  55. Jayasinghe Y, Rane A, Stalewski H, et al. The presentation and early diagnosis of the rudimentary uterine horn. Obstet Gynecol. 2005;105:1456–67.

    Article  PubMed  Google Scholar 

  56. Reichman D, Laufer MR, Robinson BK. Pregnancy outcomes in unicornuate uterus: a review. Fertil Steril. 2009;91:1886–94.

    Article  PubMed  Google Scholar 

  57. Fedele L, Bianchi S, Agnoli B, et al. Urinary tract anomalies associated with unicornuate uterus. J Urol. 1996;155:847–8.

    Article  CAS  PubMed  Google Scholar 

  58. Fedele L, Dorta M, Vercellini P, et al. Ultrasound in the diagnosis of subclasses of unicornuate uterus. Obstet Gynecol. 1988;71:274–7.

    CAS  PubMed  Google Scholar 

  59. Pui MH. Imaging diagnosis of congenital uterine malformation. Comput Med Imaging Graph. 2004;28:425–33.

    Article  PubMed  Google Scholar 

  60. Salim R, Woelfer B, Backos M, et al. Reproducibility of three-dimensional ultrasound diagnosis of congenital uterine anomalies. Ultrasound Obstet Gynecol. 2003;21:578–82.

    Article  CAS  PubMed  Google Scholar 

  61. Fedele L, Bianchi S, Zanconato G, et al. Laparoscopic removal of the cavitated noncommunicating rudimentary uterine horn: surgical aspects in 10 cases. Fertil Steril. 2005;83:432–6.

    Article  PubMed  Google Scholar 

  62. Burgis J. Obstructive mullerian anomalies: case report, diagnosis, and management. Am J Obstet Gynecol. 2001;185:338–44.

    Article  CAS  PubMed  Google Scholar 

  63. Fedder J. Uterus didelphys associated with duplex kidneys and ureters. Acta Obstet Gynecol Scand. 1990;69:665–6.

    Article  CAS  PubMed  Google Scholar 

  64. Sarto GE, Simpson JL. Abnormalities of the Müllerian and Wolffian duct systems. Birth Defects Orig Artic Ser. 1978;14:37–54.

    CAS  PubMed  Google Scholar 

  65. Heinonen PK. Complete septate uterus with longitudinal vaginal septum. Fertil Steril. 2006;85:700–5.

    Article  PubMed  Google Scholar 

  66. Candiani GB, Fedele L, Candiani M. Double uterus, blind hemivagina, and ipsilateral renal agenesis: 36 cases and long-term follow-up. Obstet Gynecol. 1997;90:26–32.

    Article  CAS  PubMed  Google Scholar 

  67. Heinonen PK. Clinical implications of the didelphic uterus: long-term follow-up of 49 cases. European J Obstet Gynecol. 2000;91:183–90.

    Article  CAS  Google Scholar 

  68. Zurawin RK, Dietrich JE, Heard MJ, et al. Didelphic uterus and obstructed hemivagina with renal agenesis: case report and review of the literature. J Pediatr Adolesc Gynecol. 2004;17:137–41.

    Article  CAS  PubMed  Google Scholar 

  69. Smith NA, Laufer MR. Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome: management and follow-up. Fertil Steril. 2007;87:918–22.

    Article  PubMed  Google Scholar 

  70. Mulchahey K. Severe dysmenorrhea due to obstructive anomaly. J Pediatr Adolesc Gynecol. 2002;15:175–7.

    Article  PubMed  Google Scholar 

  71. Frei KA, Bonel HM, Haberlin FC. Uterus didelphys, obstructed hemivagina and ipsilateral agenesis with excessive chronic vaginal discharge. Acta Obstet Gynecol Scand. 1999;78:460–1.

    CAS  PubMed  Google Scholar 

  72. Alumbreros-Andujar MT, Aguilar Galàn EV, Céspedes Casas C. Acute urinary retention caused by OVHIRA syndrome. Int Urogynecol J. 2014;25:699–701.

    Article  PubMed  Google Scholar 

  73. Sanghvi Y, Shastri P, Mane SB, et al. Prepubertal presentation of Herlyn-Werner-Wunderlich syndrome: a case report. J Pediatr Surg. 2011;46:1277–80.

    Article  PubMed  Google Scholar 

  74. Fedele L, Ferrazzi E, Dorta M, et al. Ultrasonography in the differential diagnosis of double uteri. Fertil Steril. 1988;50:361–4.

    Article  CAS  PubMed  Google Scholar 

  75. Fedele L, Dorta M, Brioschi D, et al. Magnetic resonance evaluation of double uteri. Obstet Gynecol. 1989;74:844–7.

    CAS  PubMed  Google Scholar 

  76. Perino A, Chianchiano N, Simonaro C, et al. Endoscopic management of a case of complete septate uterus with unilateral haematometra. Hum Reprod. 1995;10:2171–3.

    Article  CAS  PubMed  Google Scholar 

  77. Romano S, Bustan M, Ben-Shlomo I, et al. A novel surgical approach to obstructed hemiuterus: sonographically guided hysteroscopic correction. Hum Reprod. 2000;15:1578–9.

    Article  CAS  PubMed  Google Scholar 

  78. Cicinelli E, Romano F, Didonna T, et al. Resectoscopic treatment of uterus didelphys with unilateral imperforate vagina complicated by hematocolpos and hematometra: case report. Fertil Steril. 1999;72:553–5.

    Article  CAS  PubMed  Google Scholar 

  79. Roth M, Mingin G, Dharamsi N, et al. Endoscopic ablation of longitudinal vaginal septa in prepubertal girls: a minimally invasive alternative to open resection. J Pediatr Urol. 2010;6:464–8.

    Article  PubMed  Google Scholar 

  80. Rock JA, Zacur HA, Dlugi AM, et al. Pregnancy success following surgical correction of imperforate hymen and complete transverse vaginal septum. Obstet Gynecol. 1982;59:448–51.

    CAS  PubMed  Google Scholar 

  81. Levy G, Warren M, Maidman J. Transverse vaginal septum: case report and review of the literature. Int Urogynecol J Pelvic Floor Dysfunct. 1997;8:173–6.

    Article  CAS  PubMed  Google Scholar 

  82. Banerjee R, Laufer MR. Reproductive disorders associated with pelvic pain. Semin Pediatr Surg. 1998;7:52–61.

    Article  CAS  PubMed  Google Scholar 

  83. Edmonds DK, Rose GL. Outflow tract disorders of the female genital tract. Obstet Gynaecol. 2013;15:11–7.

    Google Scholar 

  84. Banerjee AK, Clarke O, MacDonald LM. Sonographic detection of neonatal hydrometrocolpos. Br J Radiol. 1992;65:268–71.

    Article  CAS  PubMed  Google Scholar 

  85. Williams CE, Cutner A, Creighton SM. Laparoscopic management of high transverse vaginal septae: a case report. Gynecol Surg. 2013;10:18–91.

    Article  Google Scholar 

  86. Patton PE, Novy MJ, Lee DM, Hickok LR. The diagnosis and reproductive outcome after surgical treatment of the complete septate uterus, duplicated cervix and vaginal septum. Am J Obstet Gynecol. 2004;190:1669–75.

    Article  PubMed  Google Scholar 

  87. Shatzkes DR, Haller JO, Velcek FT. Imaging of uterovaginal anomalies in the pediatric patient. Urol Radiol. 1991;13:58–66.

    Article  CAS  PubMed  Google Scholar 

  88. Williams CE, Nakhal RS, Hall-Craggs MA, et al. Transverse vaginal septae: management and long-term outcomes. BJOG. 2014;121:1653–8.

    Article  CAS  PubMed  Google Scholar 

  89. Garcia RF. Z-plasty for correction of congenital transferse vaginal septum. Am J Obstet Gynecol. 1967;99:1164–5.

    Article  CAS  PubMed  Google Scholar 

  90. Balen A. Congenital anomalies of the genital tract. In: Setchell ME, Hudson CN, editors. Shaw’s textbook of operative gynaecology (Chapter 8). 7th ed. New Delhi, India: Elsevier; 2013. p. 118–21.

    Google Scholar 

  91. Sardesai SP, Dabade R, Chitale V. Double cross plasty for management of transverse vaginal septum: a 20-year retrospective review of our experience. J Obstet Gynaecol India. 2015;65:181–5.

    Article  PubMed  Google Scholar 

  92. Arkoulis N, Kearns C, Deeny M, et al. The interdigitating Y-plasty procedure for the correction of the transverse vaginal septa. BJOG. 2017;124:331–5.

    Article  CAS  PubMed  Google Scholar 

  93. Attaran M, Gidwani G. Management of vaginal agenesis and nonobstructing vaginal septa. In: Gidwani G, Falcone T, editors. Congenital malformations of the female genital tract: diagnosis and management. Philadelphia: Lippincott Williams & Wilkins; 1999. p. 121–44.

    Google Scholar 

  94. Roberts CP, Haber MJ, Rock JA. Vaginal creation for Mullerian agenesis. Am J Obstet Gynecol. 2001;185:1349–52.

    Article  CAS  PubMed  Google Scholar 

  95. Bates GW, Wiser WL. A technique for uterine conservation in adolescents with vaginal agenesis and a functional uterus. Obstet Gynecol. 1985;66:290–4.

    CAS  PubMed  Google Scholar 

  96. Fedele L, Bianchi S, Frontino G, et al. Laparoscopic findings and pelvic anatomy in Mayer–Rokitansky–Küster–Hauser syndrome. Obstet Gynecol. 2007;109:1111–5.

    Article  PubMed  Google Scholar 

  97. Oppelt PG, Lermann J, Strick R, et al. Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH). Reprod Biol Endocrinol. 2012;10:57.

    Article  PubMed  PubMed Central  Google Scholar 

  98. Baramki TA. Treatment of congenital anomalies in girls and women. J Reprod Med. 1984;29:376–84.

    CAS  PubMed  Google Scholar 

  99. Aittomäki K, Eroila H, Kajanoja P. A population-based study of the incidence of Müllerian aplasia in Finland. Fertil Steril. 2001;76:624–5.

    Article  PubMed  Google Scholar 

  100. Strübbe EH, Cremers CW, Willemsen WN, et al. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome without and with associated features: two separate entities? Clin Dysmorphol. 1994;3:192–9.

    PubMed  Google Scholar 

  101. Biason-Lauber A, Konrad D. WNT4 and sex development. Sex Dev. 2008;2:210–8.

    Article  CAS  PubMed  Google Scholar 

  102. Duncan PA, Shapiro LR, Stangel JJ. The MURCS association: müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. J Pediatr. 1979;95:399–402.

    Article  CAS  PubMed  Google Scholar 

  103. Oppelt P, Renner SP, Kellermann A, et al. Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging. Hum Reprod. 2006;21(3):792–7.

    Article  PubMed  Google Scholar 

  104. Guerrier D, Mouchel T, Pasquier L, et al. The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) phenotypic manifestations and genetic approaches. J Negat Results Biomed. 2006;5:1.

    Article  PubMed  PubMed Central  Google Scholar 

  105. Herlin M, Højland AT, Petersen MB. Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: a case report and review of the literature. Am J Med Genet A. 2014;164A:2276–86.

    Article  PubMed  CAS  Google Scholar 

  106. Philibert P, Biason-Lauber A, Gueorguieva I, et al. Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome). Fertil Steril. 2011;30:2683–6.

    Article  CAS  Google Scholar 

  107. Reindollar RH, Byrd JR, McDonough PG. Delayed sexual development: a study of 252 patients. Am J Obstet Gynecol. 1981;140:371–80.

    Article  CAS  PubMed  Google Scholar 

  108. Fedele L, Bianchi S, Barbieri M, et al. Use of an endoscopic ultrasound probe for the evaluation of the Müllerian rudiments in patients with Rokitansky syndrome. Fertil Steril. 2008;89:981–3.

    Article  PubMed  Google Scholar 

  109. Weijenborg PT, ter Kuile MM. The effect of a group programme on women with the Mayer-Rokitansky-Kuster-Hauser syndrome. BJOG. 2000;107:365–8.

    Article  CAS  PubMed  Google Scholar 

  110. Poland ML, Evans TN. Psychological aspects of vaginal agenesis. J Reprod Med. 1985;30:340–4.

    CAS  PubMed  Google Scholar 

  111. American College of Obstetricians, Gynecologists. Müllerian agenesis: diagnosis, management, and treatment. ACOG Committee opinion n. 562. Obstet Gynecol. 2013;121:1134–7; Reaffirmed 2015.

    Article  Google Scholar 

  112. Frank RT. The formation of an artificial vagina without operation. Am J Obstet Gynecol. 1938;35:1053–5.

    Article  Google Scholar 

  113. Edmonds DK, Rose GL, Lipton MG, et al. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a review of 245 consecutive cases managed by a multidisciplinary approach with vaginal dilators. Fertil Steril. 2012;97:686–90.

    Article  PubMed  Google Scholar 

  114. Ingram JM. The bicycle seat stool in the treatment of vaginal agenesis and stenosis: a preliminary report. Am J Obstet Gynecol. 1981;140:867–73.

    Article  CAS  PubMed  Google Scholar 

  115. D’Alberton A, Santi F. Formation of a neovagina by coitus. Obstet Gynecol. 1972;40:763–4.

    PubMed  Google Scholar 

  116. Motta T, Von Wunster S, De Giorgi O, et al. The “functional method” as initial approach to the formation of a neovagina. In: Proceedings of the 6th European congress on pediatric and adolescent gynecology, Budapest, Hungary, Monduzzi Editore, Bologna; 1993. p. 89.

    Google Scholar 

  117. Abbè R. New method of creating a vagina in a case of congenital absence. Med Rec. 1898;54:836–8.

    Google Scholar 

  118. Banister JB, McIndoe AH. An operation for the cure of congenital absence of the vagina. Proc R Soc Med. 1938;31:1055–6.

    CAS  PubMed  PubMed Central  Google Scholar 

  119. Williams EA. Congenital absence of the vagina: a simple operation for its relief. J Obstet Gynaecol Br Commonw. 1964;71:511–2.

    Article  CAS  PubMed  Google Scholar 

  120. Creatsas G, Deligeoroglou E, Makrakis E, et al. Creation of a neovagina following Williams vaginoplasty and the Creatsas modification in 111 patients with Rokitansky-Küster-Hauser syndrome. Fertil Steril. 2001;76:1036–40.

    Article  CAS  PubMed  Google Scholar 

  121. Vecchietti G. [Creation of an artificial vagina in Rokitansky-Küster-Hauser syndrome]. Attual Ostet Ginecol. 1965;11:131–47.

    Google Scholar 

  122. Davydov SN. [Colpopoeisis from the peritoneum of the uterorectal space]. Akush Gynecol (Mosk). 1969;45:55–7.

    Google Scholar 

  123. Ohashi S, Ikuma K, Koyasu Y, et al. Laparoscopic reconstruction of vagina using sigmoid autograft. Surg Endosc. 1996;10:1019–21.

    Article  CAS  PubMed  Google Scholar 

  124. Ikuma K, Ohashi S, Koyasu Y, et al. Laparoscopic colpopoiesis using sigmoid colon. Surg Laparosc Endosc. 1997;7:60–2.

    Article  CAS  PubMed  Google Scholar 

  125. Fedele L, Busacca M, Candiani M, et al. Laparoscopic creation of a neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome by modification of Vecchietti’s operation. Am J Obstet Gynecol. 1994;171:268–9.

    Article  CAS  PubMed  Google Scholar 

  126. Adamyan LV, Kulakov VIVI, Murvatov KD, et al. Application of endoscopy in surgery for malformations of genitalia. J Am Assoc Gynecol Laparosc. 1994;1:S1.

    Article  CAS  PubMed  Google Scholar 

  127. Soong YK, Chang FH, Lai YM, et al. Results of modified laparoscopically assisted neovaginoplasty in 18 patients with congenital absence of vagina. Hum Reprod. 1996;11:200–3.

    Article  CAS  PubMed  Google Scholar 

  128. Bianchi S, Frontino G, Ciappina N, et al. Creation of a neovagina in Rokitansky syndrome: comparison between two laparoscopic techniques. Fertil Steril. 2011;95:1098–100.

    Article  PubMed  Google Scholar 

  129. Fedele L, Bianchi S, Berlanda N, et al. Neovaginal mucosa after Vecchietti’s laparoscopic operation for Rokitansky syndrome: structural and ultrastructural study. Am J Obstet Gynecol. 2006;195:156–61.

    Article  Google Scholar 

  130. Fedele L, Bianchi S, Berlanda N, et al. Laparoscopic creation of a neovagina and recovery of mestrual function in a patient with Rokitansky syndrome: a case report. Hum Reprod. 2006;21:3287–9.

    Article  CAS  PubMed  Google Scholar 

  131. Raziel A, Friedler S, Gidoni Y, et al. Surrogate in vitro fertilization outcome in typical and atypical forms of Mayer–Rokitansky–Kuster–Hauser syndrome. Hum Reprod. 2012;27:126–30.

    Article  CAS  PubMed  Google Scholar 

  132. Edmonds DK. Management of vaginal agenesis. Curr Opin Obstet Gynecol. 2013;25:382–7.

    Article  PubMed  Google Scholar 

  133. Petrozza JC, Gray MR, Davis AJ, et al. Congenital absence of the uterus and vagina is not commonly transmitted as a dominant genetic trait: outcomes of surrogate pregnancies. Fertil Steril. 1997;67:387–9.

    Article  CAS  PubMed  Google Scholar 

  134. Brännström M, Johannesson L, Bokström H, et al. Livebirth after uterus transplantation. Lancet. 2015;385:607–16.

    Article  PubMed  Google Scholar 

  135. Okzan O, Akar ME, Ozkan O, et al. Preliminary results of the first human uterus transplantation from a multiorgan donor. Fertil Steril. 2013;99:470–6.

    Article  Google Scholar 

  136. Johannesson L, Kvarnström N, Mölne J, et al. Uterus transplantation trial: 1-year outcome. Fertil Steril. 2015;103:199–204.

    Article  PubMed  Google Scholar 

  137. Fedele L, Dorta M, Brioschi D, et al. Re-examination of the anatomic indications for hysteroscopic metroplasty. Eur J Obstet Gynecol Reprod Biol. 1991;39:127–31.

    Article  CAS  PubMed  Google Scholar 

  138. Jurkovic D. Three-dimensional ultrasound in gynecology: a critical evaluation. Editorial Ultrasound Obstet Gynecol. 2002;19:109–17.

    Article  CAS  PubMed  Google Scholar 

  139. Raga F, Bonilla-Musoles F, Blanes J, et al. Congenital Mullerian anomalies: diagnostic accuracy of three-dimensional ultrasound. Fertil Steril. 1996;65:523–8.

    Article  CAS  PubMed  Google Scholar 

  140. Propst AM, Hill JA. Anatomic factors associated with recurrent pregnancy loss. Semin Reprod Med. 2000;18:341–50.

    Article  CAS  PubMed  Google Scholar 

  141. Candiani GB, Fedele L, Zamberletti D, et al. Endometrial patterns in malformed uteri. Acta Eur Fertil. 1983;14:311–8.

    CAS  PubMed  Google Scholar 

  142. Valle RF, Ekpo GE. Hysteroscopic metroplasty for the septate uterus: review and meta-analysis. J Minimal Invas Gynecol. 2013;20:22–42.

    Article  Google Scholar 

  143. Storment JM, Kaiser JR, Sites CK. Transvaginal ultrasonographic diagnosis of uterine septa. J Reprod Med. 1998;43:823–6.

    CAS  PubMed  Google Scholar 

  144. Nouri K, Ott J, Huber JC, et al. Reproductive outcome after hysteroscopic septoplasty in patients with septate uterus—a retrospective cohort study and systematic review of the literature. Reprod Biol Endocrinol. 2010;8:52.

    Article  PubMed  PubMed Central  Google Scholar 

  145. Raga F, Bauset C, Remohi J, et al. Reproductive impact of congenital uterine anomalies. Hum Reprod. 1997;12:2277–81.

    Article  CAS  PubMed  Google Scholar 

  146. Paradisi R, Barzanti R, Natali F, et al. Metroplasty in a large population of women with septate uterus. J Minimal Invas Gyenecol. 2011;18:449–54.

    Article  Google Scholar 

  147. Heinonen PK, Saarikoski S, Pystynen P. Reproductive performance of women with uterine anomalies. An evaluation of 182 cases. Acta Obstet Gynecol Scand. 1982;61:157–62.

    Article  CAS  PubMed  Google Scholar 

  148. Fedele L, Bianchi S, Marchini M, et al. Residual uterine septum of less than 1 cm after hysteroscopic metroplasty does not impair reproductive outcome. Hum Reprod. 1996;11:727–9.

    Article  CAS  PubMed  Google Scholar 

  149. Paradisi R, Barzanti R, Natali F, et al. Hysteroscopic metroplasty: reproductive outcome in relation to septum size. Arch Gynecol Obstet. 2014;289:671–6.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Obstetrics and Gynecology, University of Milan, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Via Commenda, 12, 20122, Milan, Italy

    Tiziano Motta & Chiara Dallagiovanna

Authors
  1. Tiziano Motta
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Chiara Dallagiovanna
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Tiziano Motta .

Editor information

Editors and Affiliations

  1. Department of Obstetrics and Gynecology, University of Cagliari, Cagliari, Italy

    Anna Maria Fulghesu

Rights and permissions

Reprints and permissions

Copyright information

© 2018 Springer International Publishing AG

About this chapter

Cite this chapter

Motta, T., Dallagiovanna, C. (2018). Diagnosis and Treatment of Genital Malformations in Infancy and Adolescence. In: Fulghesu, A. (eds) Good Practice in Pediatric and Adolescent Gynecology. Springer, Cham. https://doi.org/10.1007/978-3-319-57162-1_3

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-57162-1_3

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-57161-4

  • Online ISBN: 978-3-319-57162-1

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation