Mayer-Rokitansky-Küster-Hauser syndrome type II associated with congenital anorectal malformation: a case report
Abstract
Mayer-Rokitansky-Küster-Häuser (MRKH) syndrome is a congenital Müllerian duct anomaly. Type II may include renal and skeletal defects, but co-occurrence with anorectal malformation (ARM) and tibiofibular dysplasia in infants is extremely rare. An 8-month-old female presented with constipation, absent anal orifice, perineal cystic fistula, and no vaginal opening, plus right lower limb deformity. Imaging revealed T4–T6 vertebral anomalies, left renal hypoplasia, and right tibiofibular deformity. Cystoscopy showed distal vaginal atresia and rectovestibular fistula; karyotype was 46, XX. Pelvic magnetic resonance imaging and laparoscopy confirmed absent uterus with bilateral ovaries and tubes. Laparoscopically assisted perineal anoplasty was performed, with normal defecation maintained postoperatively. In female infants with congenital ARM and perineal fistula, type II MRKH syndrome should be suspected, especially with urinary or skeletal anomalies. Preoperative endoscopy and laparoscopic exploration are crucial for diagnosis and surgical planning, requiring multidisciplinary care and long-term follow-up.
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BibTeX
@article{zhao2026mayerrokitanskyküsterhauser,
title = {{Mayer-Rokitansky-Küster-Hauser syndrome type II associated with congenital anorectal malformation: a case report}},
author = {Baoyun Zhao and Jierui Su and Zhi Li and Xu Wang and Ping Zhao},
journal = {Journal of Surgical Case Reports},
year = {2026},
month = oct,
doi = {10.1093/jscr/rjag933},
url = {https://doi.org/10.1093/jscr/rjag933},
note = {CC BY-NC 4.0},
}
RIS
TY - JOUR
TI - Mayer-Rokitansky-Küster-Hauser syndrome type II associated with congenital anorectal malformation: a case report
AU - Baoyun Zhao
AU - Jierui Su
AU - Zhi Li
AU - Xu Wang
AU - Ping Zhao
PY - 2026
DA - 2026/10/19
JO - Journal of Surgical Case Reports
DO - 10.1093/jscr/rjag933
UR - https://doi.org/10.1093/jscr/rjag933
AB - Mayer-Rokitansky-Küster-Häuser (MRKH) syndrome is a congenital Müllerian duct anomaly. Type II may include renal and skeletal defects, but co-occurrence with anorectal malformation (ARM) and tibiofibular dysplasia in infants is extremely rare. An 8-month-old female presented with constipation, absent anal orifice, perineal cystic fistula, and no vaginal opening, plus right lower limb deformity. Imaging revealed T4–T6 vertebral anomalies, left renal hypoplasia, and right tibiofibular deformity. Cystoscopy showed distal vaginal atresia and rectovestibular fistula; karyotype was 46, XX. Pelvic magnetic resonance imaging and laparoscopy confirmed absent uterus with bilateral ovaries and tubes. Laparoscopically assisted perineal anoplasty was performed, with normal defecation maintained postoperatively. In female infants with congenital ARM and perineal fistula, type II MRKH syndrome should be suspected, especially with urinary or skeletal anomalies. Preoperative endoscopy and laparoscopic exploration are crucial for diagnosis and surgical planning, requiring multidisciplinary care and long-term follow-up.
SN - 2042-8812
ER -