9. Abdominopelvic Pain and Coexisting Pain Disorders in Patients with Mayer-Rokitansky-Küster-Hauser Syndrome

Background

Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH) is a congenital anomaly in which the Mullerian duct is underdeveloped, leading to absence of the uterus and vagina. Limited research exists describing abdominopelvic pain (AP) in women with MRKH, with most studies focusing solely on pain related to sexual function. Our objectives were to: 1) estimate the prevalence of AP in women with MRKH, 2) compare the prevalence of AP in women with anatomic variations and extragenital anomalies in MRKH, and 3) estimate the prevalence of coexisting pain disorders (CPD) in women with MRKH.

Methods

We conducted an IRB-approved retrospective cohort study of patients with MRKH seen at an academic center between 8/20/2014 – 8/20/2024. Patients were identified using ICD-10 codes for agenesis of uterus or agenesis of vagina. Inclusion criteria were as follows: 1) patients with a confirmed diagnosis of MRKH, as assessed by post-pubertal MRI or surgical findings. Patients with abnormal karyotypes were excluded. Data included demographics, MRKH type and associated extragenital malformations, presence of uterine remnants (UR), pelvic pathology, presence and quality of AP, and CPD. Persistent AP was defined as pain lasting more than six months or occurring at intervals which spanned over a period longer than six months. Cyclic AP was defined as pain occurring at monthly intervals for any time period. Persistent and cyclic AP were not mutually exclusive. Chi-square and t-test statistics were performed.

Results

117 patients were identified and then subcategorized into those with UR (N=63) and those without UR (N=54) and separately evaluated by MRKH type (Type 1 N=65, Type 2 N=52). Overall, 43 patients (36.8%) reported persistent AP and 24 patients (20.5%) reported cyclic AP. Presence of UR was associated with both the presence of persistent AP (p = 0.008) and cyclic AP (p = 0.001) (Table 1). There was no association between the type of MRKH and the presence of persistent AP (p = 0.732) or cyclic AP (p = 0.282) (Table 2). 28 (23.9%) patients were diagnosed with or treated for one or more CPD, with migraine headache (21/117) and IBS (8/117) being the most common. Secondarily, MRKH patients had a wide range of pelvic pathologies, including ovarian cysts (14/117), paratubal cysts (15/117), and endometriosis (3/117). Endometriosis may be underestimated due to need for surgical diagnosis.

Conclusions

In this cohort of women with MRKH, over a third of patients reported persistent AP. Persistent AP and cyclic AP were associated with the presence of UR and MRKH types with AP were similar. The limited number of MRKH patients with CPD may reflect overlapping diagnoses.