Vaginal agenesis or distal vaginal atresia associated with anorectal malformations

• Published in: Journal of pediatric surgery Vol. 47; no. 3; pp. 571 - 576
• Main Authors: Wester, Tomas, Tovar, Juan A, Rintala, Risto J
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.03.2012
• Subjects: 46, XX Disorders of Sex Development - complications; 46, XX Disorders of Sex Development - diagnosis; 46, XX Disorders of Sex Development - surgery; Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - surgery; Anal Canal - surgery; Anorectal Malformations; Anus, Imperforate - complications; Anus, Imperforate - diagnosis; Anus, Imperforate - surgery; Colovaginoplasty; Congenital Abnormalities; Female; Humans; Infant; Kidney - abnormalities; Mayer-Rokitansky-Küster-Hauser; Medicin och hälsovetenskap; Mullerian Ducts - abnormalities; Pediatrics; Rectum - surgery; Somites - abnormalities; Spine - abnormalities; Surgery; Uterus - abnormalities; Uterus - surgery; Vagina - abnormalities; Vagina - surgery; Vaginal agenesis; Vaginal atresia; Vestibular fistula; Anorectal malformations; Vaginal atresia; Vaginal agenesis; Vestibular fistula; Colovaginoplasty; Mayer-Rokitansky-Küster-Hauser
• ISSN: 0022-3468; 1531-5037; 1531-5037
• DOI: 10.1016/j.jpedsurg.2011.09.040

Abstract Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is defined as Müllerian aplasia with vaginal agenesis and uterine remnants. It is commonly associated with renal and sometimes vertebral anomalies. The MRKH syndrome or distal vaginal atresia is sometimes associated with anorectal malformations. The purpose of this study was to describe 7 girls with vaginal agenesis or distal vaginal atresia and an anorectal malformation and review the literature. Methods Seven patients with vaginal agenesis or distal vaginal atresia and anorectal malformation were operated on at 3 pediatric surgical centers in Madrid, Helsinki, and Stockholm. Case records were reviewed, and the previous literature was searched. Results Six patients had a reconstruction of the anorectum and vagina during the first year of life. In one case, the vagina was replaced at the time of a redo posterior sagittal anorectoplasty at the age of 11 years. The 4 patients with vaginal agenesis had a sigmoid colovaginoplasty. The 3 patients with a distal vaginal atresia had a vaginal pull-through. Four of the patients needed laxatives or enemas for mild constipation at last follow-up. Short-term gynecologic problems were minor in all patients. Conclusion Vaginal reconstruction at the time of anorectoplasty results in good short-term outcome. For vaginal agenesis, a primary colovaginoplasty is suggested to be the preferred technique to replace the vagina.