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.
Introduction
Mayer-Rokitansky-Küster-Häuser (MRKH) syndrome is a congenital disorder of the female reproductive system, primarily attributable to Müllerian duct hypoplasia. It is characterized by vaginal hypoplasia and uterine agenesis or hypoplasia, with a karyotype of 46, XX [1]. The incidence is 1 in 4000 to 1 in 5000 live female births; the etiology is likely multifactorial, with potential contributions from genetic mutations [2]. MRKH syndrome has two subtypes: Type I, with isolated uterine and vaginal agenesis; and Type II, which adds extragenital malformations—most commonly renal and vertebral, and less frequently craniofacial, cardiac, or auditory abnormalities [3]. Congenital anorectal malformation (ARM) is often detected shortly after birth due to abnormal bowel movements. The combination of type II MRKH syndrome with ARM is clinically rare and easily misdiagnosed, which significantly affects clinical management [4]. This subtype is associated with renal malformations in 30%–40% of cases and cervical–thoracic vertebral dysplasia in 14.3% of cases [5]. To date, no tibiofibular deformities have been documented in pediatric populations. This report presents the clinical diagnosis and management of a rare pediatric case of MRKH type II syndrome complicated by AMR.
Case presentation
An 8-month-old female was admitted for constipation and abnormal anal opening. Examination showed absent anal orifice, a 1.0 cm perineal cystic mass with a fistulous opening discharging feces, and no visible vaginal orifice (Fig. 1). The right lower leg was enlarged with a palpable proximal fibular prominence, non-palpable Achilles tendon, preserved knee motion but restricted ankle movement. Spinal alignment was normal. Echocardiography was unremarkable. Chest X-ray revealed T4–T6 vertebral anomalies. Inverted lateral X-ray shows high-type imperforate anus (Fig. 2). Urinary imaging showed left renal hypoplasia with ureteral dilation (Fig. 3). Right tibiofibular deformity was confirmed on X-ray (Fig. 4). Given ARM with rectovestibular fistula, cloacal malformation could not be excluded. Cystoscopy revealed a pale purplish–blue membrane at the labia minora (suspected imperforate hymen), no vaginal opening. A rectal fistula orifice is seen inferiorly (Fig. 5). Cystoscopy reveals a normal right ureteric orifice, and an unvisualized left orifice. Multidisciplinary consultation (gynecology, orthopedics, endocrinology, genetics, and neonatal surgery) suggested type II MRKH syndrome. Recommendations included: vaginal reconstruction and fertility counseling in adolescence, orthopedic correction after 1 year of age, endocrine evaluation post-puberty and genetic testing. Laparoscopy was recommended to assess internal genitalia and enable concurrent anal reconstruction using distal rectum as neovagina. After family discussion, chromosomal testing and laparoscopic-assisted anorectal reconstruction were consented, with genetic testing deferred due to cost.
Cystic mass in the perineum.
Inverted lateral X-ray.
Left renal hypoplasia.
Tibiofibular developmental malformation.
Rectal fistula opening.
Chromosomal testing was 46, XX. Pelvic magnetic resonance imaging showed bilateral ovaries but no clear uterus. Laparoscopy revealed rectosigmoid dilation, absent uterine tissue (Fig. 6), and visualized bilateral ovaries and fallopian tubes (Figs 7 and 8). Laparoscopically assisted perineal anoplasty was successfully performed, and the patient was discharged on postoperative day 10. Family was instructed on regular anal dilation. Follow-up showed patent reconstructed anus with normal defecation and no complications.
No uterine tissue identified in the pelvis.
Written informed consent for the publication of this case report and accompanying images has been obtained from the patient’s legal guardians.
The left ovary and the ipsilateral fallopian tube are both clearly visualized.
The right ovary and the ipsilateral fallopian tube are both clearly visualized.
Discussion
MRKH syndrome is a congenital female genital malformation of unknown etiology, characterized by normal secondary sexual development and a 46, XX karyotype, with varying degrees of vaginal and uterine underdevelopment [1]. The Müllerian duct system typically forms the uterus, cervix, and upper third of the vagina; its developmental disruption can lead to MRKH syndrome [6]. Current research indicates that MRKH syndrome is associated with chromosomal microdeletions and genetic mutations, such as microdeletions in the 16p11.2, 17q12, and 22q11.2 regions. Some studies have also found that this syndrome serves as a risk factor for various conditions, including renal dysgenesis, spinal deformities, diabetes, and short stature [7]. HNF1B, GREB1L, WNT4, and LHX1 have been implicated as key pathogenic genes in MRKH syndrome [8]. Cytogenetic analysis of this case revealed a normal 46, XX karyotype. No familial history of MRKH syndrome or related congenital anomalies was reported. Given the family’s declination of comprehensive genetic testing, no molecular genetic data were available to assess potential pathogenic variants.
Type II MRKH syndrome is associated with multisystem anomalies in 45%–54% of cases; urinary tract abnormalities (30%–50%) predominate, including renal dysplasia, horseshoe kidney, and ectopic ureters [3, 9]. However, a Chinese multicenter study reported 30.4% prevalence with more frequent skeletal anomalies, particularly spinal deformities and limb defects [10]. In female infants with ARM and rectovestibular fistula—especially those with two perineal orifices—MRKH should be suspected. Diagnosis is often delayed until puberty [4, 11]. When perineal anatomy is unclear, diagnostic endoscopy is the critical first step before laparoscopy or definitive reconstruction [1]. This case presented a solitary perineal orifice. Cystoscopy confirmed distal vaginal atresia and rectoperineal fistula, renal and skeletal anomalies suggested type II MRKH syndrome.
Yano et al. [12] reported a median MRKH diagnosis age of 2.6 years, with 72.2% associated with ARM and 42.3% with vertebral, anal, cardiac, tracheo-esophageal, renal, and limb (VACTERL). ARM patients were diagnosed significantly earlier. Although ARM is a common comorbidity often identified during preoperative imaging or radical surgery, early neonatal diagnosis of type II MRKH with ARM remains challenging. Pediatric surgeons should maintain high suspicion for MRKH syndrome in female ARM patients, especially with VACTERL association, to avoid diagnostic delay. Laparoscopy aids both diagnosis and treatment of type II MRKH [1]. In this case, laparoscopy revealed no uterus, but both ovaries and fallopian tubes were identified. Laparoscopic anal reconstruction and rectal end replacement of the vagina were performed simultaneously during surgery. Optimal timing for vaginal reconstruction in type II MRKH syndrome remains debated; gynecologists favor adolescence. Laparoscopic rectovaginal reconstruction with concurrent anoplasty is preferred to avoid repeat surgeries, which increase risks of incontinence, perineal disruption, and infection [13–15]. Currently, large-scale, multicenter clinical validation is lacking, and standardized methods for evaluating bowel and vaginal function have not yet been established; therefore, long-term follow-up is required.
Conclusions
Congenital ARM with vestibular fistula in female infants may delay or miss the diagnosis of type II MRKH syndrome, particularly when perineal openings coexist with renal and skeletal anomalies. Preoperative endoscopy is recommended to identify the origin of the perineal fistula, and multidisciplinary management is essential. Laparoscopy aids in diagnosing MRKH syndrome and enables assisted anoplasty with advantages of minimal trauma, fewer complications, and rapid recovery. However, large-scale multicenter studies and long-term follow-up of bowel and vaginal function are still needed.
Conflicts of interest
None declared.
Funding
This work was supported by Gansu Provincial Natural Science Founding (Grant No. 24JRRA617).
