Review| Volume 159, ISSUE 1, P26-34, November 2011

Female pelvic congenital malformations. Part I: embryology, anatomy and surgical treatment


      This review covers the most important female congenital pelvic malformations. The first part focuses on the embryological development of the urogenital and anorectal apparatus, morphological features, and the diagnostic and surgical approach to abnormalities.
      Comprehension of the embryological development of the urogenital and anorectal apparatus is essential to understand the morphology of congenital pelvic abnormalities and their surgical treatment.
      Congenital pelvic malformations are characterized by specific common features; the severity of which often subverts the pelvic morphology completely and makes it difficult to comprehend before surgery. The development of imaging, mainly magnetic resonance imaging and ultrasound, in the investigation of pelvic floor disorders has recently become a fundamental tool for surgeons to achieve better understanding of the anatomy.
      Forty years ago, the primary aim of clinicians was to save the lives of such patients and to achieve anatomical normality. However, nowadays, functional reconstruction and recovery are essential parts of surgical management. Introduction of minimally invasive surgery has allowed the improvement of cosmetic results that is so important in paediatric or adolescent patients after reconstructive surgery.
      The option of sharing the complexity of pelvic congenital diseases by entrusting specific competencies to subspecialists (paediatric urologists, urogynaecologists, neurourologists, paediatric endocrinologists and neonatologists) has improved the quality of care for patients. However, at the same time, active interaction between various specialists remains fundamental. The exchange of knowledge and expertise, not only during the diagnostic–therapeutic process but also during follow-up, is crucial to obtain the best anatomical and functional results throughout the life of the patient.


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        • Sadler T.W.
        Langman's medical embriology.
        9th ed. Wolters Kluwer Lippincott Williams & Wilkins, 2004
        • Gearhart J.P.
        Exstrophy, epispadias, and other bladder anomalies.
        in: Walsch P.C. Campbell's urology. 8th ed. WB Saunders, Philadelphia2002
        • Nelson C.P.
        • Dunn R.L.
        • Wei J.T.
        Contemporary epidemiology of bladder exstrophy in the United States.
        J Urol. 2005; 173: 1728-1731
        • Stec A.A.
        • Pannu H.K.
        • Tadros Y.E.
        • Sponsellor P.D.
        • Fishman E.K.
        • Hearhart J.P.
        Pelvic floor anatomy in classic bladder exstrophy using 3-dimensional computerized tomography: initial insights.
        J Urol. 2001; 166: 1444-1449
        • Stec A.A.
        • Pannu H.K.
        • Tadros Y.E.
        • et al.
        Evaluation of the bony pelvis in classic bladder exstrophy by using 3D-CT: further insights.
        Urology. 2001; 58: 1030-1035
        • Woodhouse C.R.J.
        • Ransley P.G.
        • Williams D.I.
        The patient with exstrophy in adult life.
        Br J Urol. 1983; 55: 632-635
        • Miles-Thomas J.
        • Gearhart J.P.
        • Gearhart S.L.
        An initial evaluation of pelvic floor function and quality of life of bladder exstrophy patients after ureterosigmoidostomy.
        J Gastrointest Surg. 2006; 10: 473-477
        • Damario M.A.
        • Carpenter S.E.
        • Jones Jr., H.W.
        • Rock J.A.
        Reconstruction of the external genitalia in females with bladder exstrophy.
        Int J Gynecol Obstet. 1994; 4: 245-253
        • Zaparackaitè I.
        • Barauskas V.
        Congenital genital anomalies. Aspects of diagnostics and treatment.
        Medicina (Kaunas). 2003; 39: 105-113
        • Peña A.
        Preface: advance in anorectal malformations.
        Semin Pediatr Surg. 1997; 6: 165-169
        • Fortunoff S.
        • Lattimer J.K.
        • Edson M.
        Vaginoplasty technique for female pseudohermaphrodites.
        Surg Gynecol Obstet. 1964; 118: 545-548
        • Gonzalez R.
        • Fernandes E.T.
        Single stage feminization genitoplasty.
        J Urol. 1990; 143: 776-778
        • Rink R.C.
        • Pope J.C.
        • Kropp B.P.
        • Smith E.R.
        • Keating Jr., M.
        • Adams M.C.
        Reconstruction of the high urogenital sinus: early perineal prone approach without division of the rectum.
        J Urol. 1997; 158: 1293-1297
        • Jenak R.
        • Ludwikowski B.
        • Gonzalez R.
        Total urogenital sinus mobilization: a modified perineal approach for feminizing genitoplasty and urogenital sinus repair.
        J Urol. 2001; 165: 2347-2349
        • Gosalbez R.
        • Castellan M.
        • Ibrahim E.
        • DiSandro M.
        • Labbie A.
        New concepts in feminizing genitoplasty – is the Fortunoff flap obsolete?.
        J Urol. 2005; 174: 2350-2353
        • Alizai N.K.
        • Thomas D.F.
        • Lilford R.J.
        • Batchelor A.G.
        • Johnson N.
        Feminising genitoplasty for congenital adrenal hyperplasia: what happens at puberty?.
        J Urol. 1999; 161: 1588-1591
        • Farkas A.
        • Chertin B.
        • Hadas-Helpren I.
        1-Stage feminizing genitoplasty: 8 years of experience with 49 cases.
        J Urol. 2001; 165: 2341-2346
        • Hendren W.H.
        • Atala A.
        Repair of the high vagina in girls with severely masculinized anatomy from the adrenogenital syndrome.
        J Pediatr Surg. 1995; 30: 91-94
        • Krege S.
        • Walz K.H.
        • Hauffa B.P.
        • Korner I.
        • Rubben H.
        Long-term follow-up of female patients with congenital adrenal hyperplasia from 21-hydroxylase deficiency, with special emphasis on the results of vaginoplasty.
        BJU Int. 2000; 86: 253-259
        • Newman K.
        • Randolph J.
        • Anderson K.
        The surgical management of infants and children with ambiguous genitalia.
        Ann Surg. 1992; 6: 644-652
        • Rink R.C.
        • Adams M.C.
        Feminising genitoplasty: state of the art.
        World J Urol. 1998; 16: 212-218
        • Creighton S.M.
        • Minto C.L.
        • Steele S.J.
        Objective cosmetic and anatomical outcomes at adolescence of feminising surgery for ambiguous genitalia done in childhood.
        Lancet. 2001; 358: 124-125
        • Peña A.
        • Hong A.
        Advances in the management of anorectal malformations.
        Am J Surg. 2000; 180: 370-376
        • Levitt M.
        • Peña A.
        Anorectal malformations.
        Orphanet J Rare Dis. 2007; 26: 2-33
        • Levitt M.
        • Peña A.
        Outcomes from the correction of anorectal malformations.
        Curr Opin Pediatr. 2005; 17: 394-401
        • Peña A.
        • Levitt M.
        • Hong A.
        • Midulla P.
        Surgical management of cloacal malformations: a review of 339 patients.
        J Ped Surg. 2004; 3: 470-479
        • Georgeson K.E.
        • Inge T.H.
        • Albanese C.T.
        Laparoscopically assisted anorectal pull-through for high imperforate anus – a new technique.
        J Pediatr Surg. 2000; 35: 927-930
        • Oppelt P.
        • Renner S.P.
        • Kellermann A.
        • et al.
        Clinical aspects of Mayer–Rokitansky–Küster–Hauser syndrome: recommendations for clinical diagnosis and staging.
        Hum Reprod. 2006; 21: 792-797
        • Davydov S.N.
        Colpopoeisis from the peritoneum of the uterorectal space.
        Akush Ginekol (Mosk). 1969; 45: 55-57
        • Banister J.B.
        • McIndoe A.H.
        Congenital Absence of the Vagina, treated by Means of an Indwelling Skin-Graft.
        Proc R Soc Med. 1938; 31: 1055-1056
        • Williams E.A.
        Congenital Absence of the Vagina: A Simple Operation for Its Relief.
        J Obstet Gynaecol Br Commonw. 1964; 71: 511-512
        • Louis-Sylvestre C.
        • Haddad B.
        • Paniel B.J.
        Creation of a sigmoid neovagina: techniques and results in 16 cases.
        Eur J Obstetr Gynecol Reprod Biol. 1997; 75: 225-229
        • Vecchietti G.
        The neovagina in the Robitansky-Kuster-Hauser syndrome.
        Rev Med Suisse Romande. 1979; 99: 593-601
        • Boemers T.M.
        • Ludwikowski B.
        • Forstner R.
        • Schimke C.
        • Ardelean M.A.
        Dynamic magnetic resonance imaging of the pelvic floor in children and adolescents with vesical and anorectal malformations.
        J Pediatr Surg. 2006; 41: 1267-1271
        • Schuster T.
        • Lagler F.
        • Pfluger T.
        • Dietz H.G.
        • Joppich I.
        A computerized vector manometry and MRI study in children following posterior sagittal anorectoplasty.
        Pediatr Surg Int. 2001; 17: 48-53
        • Williams A.M.
        • Solaiyappan M.
        • Pannu H.K.
        • Bluemke D.
        • Shechter G.
        • Gearhart J.P.
        3-Dimensional magnetic resonance imaging modeling of the pelvic floor musculature in classic bladder exstrophy before pelvic osteotomy.
        J Urol. 2004; 172: 1702-1705
        • Carrington B.M.
        • Hricak H.
        • Nuruddin R.N.
        • Secaf E.
        • Laros Jr., R.K.
        • Hill E.C.
        Müllerian duct anomalies: MR imaging evaluation.
        Radiology. 1990; 176: 715-720
        • López P.J.
        • Mushtaq I.
        • Curry J.I.
        Laparoscopic inguinal herniotomy in bladder exstrophy: a new solution to an old problem?.
        J Pediatr Urol. 2007; 3: 28-31
        • Benson A.D.
        • Kramer B.A.
        • McKenna P.H.
        • Schwartz B.F.
        Robot-assisted laparoscopic sacrouteropexy for pelvic organ prolapse in classical bladder exstrophy.
        J Endourol. 2010; 24: 515-519
        • Gmyrek G.A.
        • New M.I.
        • Sosa R.E.
        • Poppas D.P.
        Bilateral laparoscopic adrenalectomy as a treatment for classic congenital adrenal hyperplasia attributable to 21-hydroxylase deficiency.
        Pediatrics. 2002; 109: E28
        • Al-Hozaim O.
        • Al-Maary J.
        • AlQahtani A.
        • Zamakhshary M.
        Laparoscopic-assisted anorectal pull-through for anorectal malformations: a systematic review and the need for standardization of outcome reporting.
        J Pediatr Surg. 2010; 45: 1500-1504
        • Bianchi S.
        • Frontino G.
        • Ciappina N.
        • Restelli E.
        • Fedele L.
        Creation of a neovagina in Rokitansky syndrome: comparison between two laparoscopic techniques.
        Fertil Steril. 2011; 95 (1098–100.e1–3)