Background
Müllerian agenesis, or Mayer-Rokitansky-Küster-Hauser syndrome, occurs in 1 in 4500 to 5000 individuals assigned female sex at birth. Pelvic floor symptoms among individuals with Mayer-Rokitansky-Küster-Hauser syndrome have not been well studied, and it is unknown how vaginal lengthening treatments affect these symptoms.
Objective
This study aimed to assess urinary, prolapse, and bowel symptoms in individuals with Mayer-Rokitansky-Küster-Hauser syndrome and to determine whether symptoms vary by vaginal lengthening treatment.
Study Design
We conducted a cross-sectional study in 2019 using an online survey distributed by the Beautiful You MRKH Foundation via social media to individuals with Mayer-Rokitansky-Küster-Hauser syndrome. Demographics, age at and timing of diagnosis, information about vaginal lengthening treatment, urinary symptoms (Michigan Incontinence Symptom Index), prolapse symptoms (Pelvic Organ Prolapse Distress Inventory short-form version), and bowel symptoms (Bristol Stool Form Scale) were obtained. The inclusion criteria included self-reported diagnosis of müllerian agenesis and female sex. Respondents with a history of renal transplant or dialysis, completion of <85% of the survey, and non-English survey responses were excluded. Descriptive analyses were used to describe the sample population. Logistic regression, Kruskal-Wallis, and Fisher exact tests were used to compare the prevalence of pelvic floor symptoms and vaginal lengthening treatments. Associations between age and genitourinary symptoms were investigated with Spearman correlations.
Results
Of 808 respondents, 615 met the inclusion criteria, representing 40 countries. 81% of respondents identified as white. The median age of the participants was 29 years (interquartile range, 24–36), with a median age at diagnosis of 16 years (interquartile range, 15–17). Among the 614 respondents, 331 (54%) had vaginal lengthening treatment, 130 of whom (39%) had undergone surgical vaginal lengthening. Of individuals with Mayer-Rokitansky-Küster-Hauser syndrome, 428 of 614 (70%) reported having had one or more urinary symptoms, and 339 of 428 (79%) reported being bothered by these symptoms. Urinary symptoms included urinary incontinence (210 of 614 [34%]), urinary frequency (245 of 614 [40%]), urinary urgency (248 of 614 [40%]), pain with urination (97 of 614 [16%]), and recurrent urinary tract infections (177 of 614 [29%]). Prolapse symptoms included lower abdominal pressure (248 of 612 [41%]), pelvic heaviness or dullness (177 of 610 [29%]), and vaginal bulge (68 of 609 [11%]). In addition, constipation was reported by 153 of 611 respondents (25%), and anal incontinence was reported by 153 of 608 (25%) respondents. Beside recent urinary incontinence (P=.003) and anal incontinence (P<.001), the prevalence of pelvic floor symptoms (P>.05) did not differ significantly between those with and without vaginal lengthening. Among those with surgical vaginal lengthening, symptomatic vaginal bulge was highest in individuals who underwent a bowel vaginoplasty procedure.
Conclusion
Urinary, prolapse, and bowel symptoms are common among individuals with Mayer-Rokitansky-Küster-Hauser syndrome and should be evaluated in this population. Overall, compared with no vaginal lengthening treatment, having vaginal lengthening treatment is not associated with substantial differences in the prevalence of pelvic floor symptoms, with the exception of recent urinary incontinence and anal incontinence. Our data suggested that bowel vaginoplasty may be associated with greater symptoms of vaginal bulge. More robust studies are needed to determine the impact of various vaginal lengthening treatments on pelvic floor symptoms.
Introduction
Müllerian agenesis, also known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is the second most common cause of primary amenorrhea, affecting 1 in approximately 5000 individuals assigned female sex at birth. MRKH syndrome is characterized by congenital absence or underdevelopment of the müllerian-derived structures: the uterus, cervix, and upper two-thirds of the vagina in 46,XX females with phenotypical external female genitalia. Individuals with MRKH syndrome may choose to undergo vaginal lengthening (VL) treatment with dilation (via dilator or coitus) with or without surgical vaginoplasty.
Why was this study conducted?
This study aimed to assess the prevalence of urinary, prolapse, and bowel symptoms in an international cohort of individuals with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and to determine whether urinary, prolapse, and bowel symptoms vary by vaginal lengthening (VL) treatment history.
Key findings
Lower urinary tract, prolapse, and bowel symptoms were commonly reported by this MRKH cohort but rarely discussed with a doctor or healthcare provider. There was a 45% increased odds of reporting urinary incontinence in the past year by individuals with VL, compared with those without VL, after controlling for age. Feeling a vaginal bulge (prolapse symptom) was highest in the bowel vaginoplasty group.
What does this add to what is known?
Individuals with MRKH should be screened for pelvic floor symptoms.
Little is known about how MRKH syndrome-related changes in the müllerian tract affect the prevalence of pelvic floor symptoms, such as urinary incontinence (UI), prolapse, and constipation. Lower urinary tract symptoms may be more common among individuals with MRKH syndrome than among the general population. In addition, high rates of lower urinary tract symptoms (LUTS) and reports of de novo prolapse following certain surgical VL procedures have been described. Only a few case series have described bowel symptoms among individuals with MRKH syndrome. ,
Although small case series and anecdotal reports suggest that individuals with MRKH syndrome experience various pelvic floor symptoms, the prevalence of these symptoms and how they relate to VL treatment history have not yet been comprehensively assessed in a large cohort. Therefore, this study aimed to: (1) describe the prevalence of urinary, prolapse, and bowel symptoms among individuals with MRKH syndrome in a large, international cohort; and (2) compare the prevalence of pelvic floor symptoms by VL treatment type.
Materials and Methods
We conducted a survey study using an anonymous electronic questionnaire that was made available to individuals with MRKH syndrome via the Beautiful You MRKH Foundation, which advertised the survey through various social media and other online platforms, including Facebook pages (Beautiful You MRKH Foundation and Global MRKH ), 6 Facebook MRKH support groups, Instagram (Beautiful You MRKH Foundation Instagram ), and Twitter (Beautiful You MRKH Foundation and Global MRKH ). Posts were made twice monthly on Instagram, Facebook, and Twitter from June 1, 2019, to August 1, 2019. Hashtags included #mrkh, #mrkhwarrior, #mrkhsisters, and #infertility. Posts made from the Beautiful You MRKH Facebook page reached 6702 people; furthermore, 2022 individuals clicked on the post, and 498 individuals commented on the post. These posts created 1405 impressions on Twitter, with similar numbers on Instagram. Additional people responded to posts in various Facebook support groups. These support groups are not named to protect the identities of members. Strategies to increase enrollment included advertising the number of people who had taken the survey, posing questions regarding UI on social media platforms, and fostering discussions on UI in private Facebook support groups. The full survey is available in the Appendix .
Our study was reviewed by the University of Michigan Institutional Review Board and designated exempt (HUM00154832) on January 29, 2019. Participation was voluntary, and consent was attained through survey continuation. The inclusion criteria included self-reported diagnosis of MRKH syndrome and female sex. Individuals were excluded from the study for the following: age <18 years, history of renal transplant or dialysis, completion of <85% of the survey, and non-English responses. To encourage participation, responses to each question were voluntary and were not required to move through the survey; furthermore, the questionnaire implemented survey logic to present follow-up questions (eg, type of surgery) based on response to previous linked questions (eg, history of VL), as described below and included in the Appendix . Participants were asked questions regarding demographics; MRKH diagnosis (MRKH type 1 [isolated müllerian agenesis] and type 2 [müllerian agenesis associated with other congenital differences], unspecified, or other); and surgical and nonsurgical VL treatment history. Participants were asked to designate their VL treatment from the following: dilator treatment, coital dilation, surgical treatment, other, or unknown. Nonsurgical VL was defined as a history of dilator treatment or coital dilation. Surgical VL was defined as a history of surgical VL, with or without nonsurgical VL. Surgical VL included McIndoe procedure (skin graft), Vecchietti procedure (laparoscopic procedure to attach strings from a dilator to a traction device), bowel vagina (using a part of the bowel to create the vagina), Davydov procedure (laparoscopic procedure to create a vagina using the peritoneal lining), Williams procedure (creation of a vaginal “pouch”), other (including the Sheares procedure), or unknown.
Validated questionnaires and independent questions assessed pelvic floor symptoms. Recent UI was ascertained using the following “yes or no” question: “In the past 12 months, have you had any involuntary leakage of urine (leaking urine at times when you are not trying to pee)?” Among those who reported a history of involuntary UI in the past 12 months, recent UI severity and bother were further assessed using the Michigan Incontinence Symptom Index (M-ISI), which assesses symptoms of stress and urgency incontinence and severity and bother, over the past month. The M-ISI score ranges from 0 to 32 and includes subscales for stress and urgency incontinence symptoms (each 0–12), severity (0–32), and bother (0–8), with higher scores indicating more severe symptoms. A separate question asked participants to indicate the presence or absence of the following LUTS: UI, recurrent urinary tract infections (UTIs), pain with urination, urinary frequency, and urinary urgency. For those who reported at least 1 LUTS, bother was assessed with the following “yes no” question: “Are you bothered by these urinary symptoms?” Impact on quality of life (QOL) was also assessed by asking those who reported recent UI or LUTS the question “How would you feel if you had to live with your urinary condition the way it is now (no better, no worse) for the rest of your life?” Urinary symptoms were considered to have “no impact on QOL” if patients reported that they would be “delighted,” “pleased,” “mostly satisfied,” or “mixed” living with their current urinary symptom for the rest of their lives. Urinary symptoms were considered to have a “negative impact on QOL” if participants reported that they would feel “mostly dissatisfied,” “unhappy,” or “terrible” living with their current urinary symptom for the rest of their lives. Pelvic organ prolapse symptoms were assessed using the Pelvic Organ Prolapse Distress Inventory short-form version (POPDI-6). POPDI-6 scores range from 0 to 100; higher scores indicate greater severity of prolapse symptoms. Prolapse symptoms were considered “bothersome” if respondents reported being “moderately” or “quite” bothered by them. Bowel symptoms were assessed using the Bristol Stool Form Scale (BSFS) and questions about the presence or absence of flatal and fecal incontinence. On the BSFS, type 1 or 2 stool forms were considered constipation, type 3 to 5 stool forms were considered normal, and type 6 or 7 were considered diarrhea. History of anal incontinence (AI) was defined as having flatal or fecal incontinence before, after, or before and after VL treatment. Participants who indicated a history of AI were also asked about bother (“How much does accidental leakage of stool or gas bother you?”) and bother because of flatal or fecal incontinence was defined as “a moderate amount” or “a lot.”
Statistical analyses were performed with Statistical Analysis Software (version 9.4; SAS Institute, Cary NC). Descriptive statistics, including median values with interquartile ranges (IQR), were calculated to describe the sample population. Logistic regression, the Fisher exact test, and the Kruskal-Wallis test were used to assess genitourinary (GU) symptoms in relation to VL. Associations between age and GU symptoms were investigated with Spearman correlations. P values of <.05 were considered significant.
Results
Of 808 respondents, 615 met the inclusion criteria, representing 40 countries (64% from North America). The exclusion criteria are shown in the Figure .
Demographics are listed in Table 1 . Participant age ranged from 18 to 75 years, age at diagnosis from 1 to 46 years, and 331 of 614 participants (54%) reported using at least 1 VL treatment—most commonly dilation. The median age for initiating treatment was 18 years for all VL techniques. The most common surgical VL procedure was the McIndoe technique, followed by bowel neovagina, Vecchietti (laparoscopic), and Davydov procedures. Among 614 respondents, 41 (7%) and 28 (5%), respectively, reported vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities and congenital defects of the vertebrae, anus, trachea, esophagus, or renal systems syndrome. Anorectal malformations were uncommon in 7 of 614 respondents (1%). Most respondents reported no (458 of 614 [75%]) or unknown (83 of 614 [14%]) congenital differences. Previous urologic surgery was uncommon in 27 of 615 respondents (4%).
| Characteristic | n (%) or median (IQR) |
|---|---|
| Age (y) (n=614) | |
| At diagnosis | 16 (15–17) |
| Current | 29 (24–36) |
| MRKH type (n=615) | |
| Type 1 (isolated absence of uterus and vagina) | 279 (45) |
| Type 2 (type 1 with associated with other congenital differences) | 134 (22) |
| Unspecified | 200 (33) |
| Other | 2 (<1) |
| Continent (n=615) | |
| Africa | 9 (1) |
| Asia | 49 (8) |
| Europe | 127 (21) |
| North America | 392 (64) |
| Oceania | 27 (4) |
| South America | 5 (1) |
| Unknown | 6 (1) |
| Race (n=615) | |
| White | 499 (81) |
| Black or African American | 18 (3) |
| American Indian or Alaska Native | 8 (1) |
| Asian | 55 (9) |
| Native Hawaiian or Pacific Islander | 4 (1) |
| Multiracial | 6 (1) |
| Other | 19 (3) |
| Declined to answer | 6 (1) |
| Ethnicity (n=605) | |
| Hispanic or Latino | 40 (7) |
| Non-Hispanic or non-Latino | 509 (84) |
| Declined to answer | 56 (9) |
| History of vaginal lengthening treatment (n=614) | |
| Yes | 331 (54) |
| No | 282 (46) |
| Do not know | 1 (<1) |
| Vaginal Lengthening treatment (n=330) a | |
| Dilator treatment | 237 (72) |
| Age at start of dilator treatment (y) | 18 (16–19) |
| Coital dilation (dilation by sex) | 114 (35) |
| Age at start of coital dilation (y) | 18 (17–20) |
| Surgical treatment | 130 (39) |
| Age at time of surgery (y) | 18 (17–21) |
| Vaginal lengthening surgery (n=122) | |
| McIndoe | 43 (35) |
| Vecchietti (laparoscopic) | 20 (16) |
| Bowel vagina | 21 (17) |
| Davydov | 18 (15) |
| Williams | 8 (7) |
| Other | 12 (10) |
| Other congenital differences (n=614) a | |
| Anorectal malformation | 7 (1) |
| VATER syndrome | 28 (5) |
| VACTERL | 41 (7) |
| Other | 11 (2) |
| Unknown | 83 (14) |
| None | 458 (75) |
| Previous urologic surgery (n=615) a | |
| Bladder augmentation | 1 (<1) |
| Ureteral reimplantation | 14 (2) |
| Urethroplasty | 2 (<1) |
| Other | 13 (2) |
| None | 588 (96) |
Urinary symptoms
Lower urinary tract symptoms and recent urinary incontinence
Lower urinary tract symptoms were reported by 428 of 614 respondents (70%), 339 of 428 (79%) of whom reported them as bothersome. Respondents reported experiencing urinary urgency (248 of 614 [40%]), urinary frequency (245 of 614 [40%]), recurrent UTIs (177 of 614 [29%]), and pain with urination (97 of 614 [16%]).
When asked about recent UI, 290 of 615 respondents (47%) endorsed symptoms in the past year, with 115 of 289 respondents (40%) reporting at least weekly UI. Although 226 of 289 respondents (78%) reported losing “a few drops or a little” with each UI episode, 63 of 289 (22%) reported leaking “more than a little.”
On the M-ISI, which assessed UI severity and bother in the last month, for both stress (n=290) and urge (n=289) UI, respondents had a median score of 3 of 12 (IQRs, 1–5 and 2–6, respectively). Median M-ISI severity score (n=288) was 9 of 32 (IQR, 5–14) and median bother score (n=290) was 1 of 8 (IQR, 0–3). M-ISI score was positively correlated with age (r=0.17; P =.002; Spearman correlation). Although the median M-ISI bother score was low, indicating that recent UI was not bothersome, nearly 8 of 10 respondents with at least 1 LUTS indicated that their LUTS were bothersome, and 168 of 468 respondents (36%) who reported LUTS or recent UI also reported a negative impact on QOL when asked about having to live with their current urinary condition for the rest of their lives.
Urinary symptoms by vaginal lengthening history
Table 2 compares urinary symptoms between respondents with and without VL treatments. M-ISI scores (stress and urge UI subscales, total severity, and bother scores) did not differ between those with and without VL. However, reporting of UI over the last year was significantly higher among those with VL treatment (53%) than those without VL (41%) ( P =.003). Respondents who disclosed UI symptoms before VL reported a median age of onset of 13 years (IQR, 6–14) compared with 20 years (IQR, 16–30) among those without VL ( P <.001, Kruskal-Wallis test). Participants who reported symptoms after VL reported a median age of onset of 21 years (IQR, 19–28). After controlling for age, logistic regression revealed a 45% increased odds of history of UI within the past year among those who had VL treatment (odds ratio [OR], 1.45; 95% confidence interval [CI], 1.04–2.02, P =.02) compared with those without VL treatment. When asked how they would feel if they had to live forever with their current urinary symptoms, there was no difference in impact on QOL ( P =.39, Fisher exact test) among those with and without VL treatments.
| Characteristic | History of vaginal lengthening | No history of vaginal lengthening | P value a |
|---|---|---|---|
| Current urinary symptoms (n=612) b | n=331 | n=281 | |
| Leaking of urine | 109 (33) | 101 (36) | .44 |
| Urinary urgency | 124 (37) | 124 (44) | .10 |
| Urinary frequency | 126 (38) | 119 (42) | .28 |
| Recurrent urinary tract infections | 91 (27) | 86 (31) | .42 |
| Pain with urination | 45 (14) | 52 (19) | .12 |
| Other | 7 (2) | 9 (3) | .45 |
| None | 113 (34) | 71 (25) | .02 |
| Urinary incontinence in the past year (n=613) | .003 | ||
| Yes | 175 (53) | 115 (41) | |
| No | 156 (47) | 167 (59) | |
| Frequency of urinary incontinence in the past year (n=289) | .29 | ||
| Less than once a month | 45 (26) | 27 (24) | |
| One or several times a month | 66 (38) | 36 (32) | |
| One or several times a week | 31 (18) | 31 (27) | |
| Every day or night | 33 (19) | 20 (18) | |
| Quantity of urinary incontinence in the past year (n=289) | .15 | ||
| A few drops or a little | 142 (81) | 84 (74) | |
| More than a little | 33 (19) | 30 (26) | |
| Michigan Incontinence Symptom Index (M-ISI) | |||
| Stress urinary incontinence domain (n=290) | |||
| Points | 3 (1–5) | 3 (1–6) | .32 |
| Urgency urinary incontinence domain (n=289) | |||
| Points | 3 (2–6) | 3 (2–6) | .85 |
| Pad use domain (n=289) | |||
| Points | 0 (0–2) | 0 (0–2) | .65 |
| Bother domain (n=290) | |||
| Points | 2 (0–4) | 1 (0–3) | .26 |
| Severity domain (n=288) | |||
| Points | 8.0 (4.6–13.7) | 9.0 (4.6–13.7) | .62 |
| Prolapse symptoms over the past 3 mo | |||
| Do you usually experience pressure in the lower abdomen? (n=610) | .41 | ||
| Yes | 129 (39) | 118 (42) | |
| Do you usually experience heaviness or dullness in the pelvic area? (n=608) | .65 | ||
| Yes | 93 (28) | 84 (30) | |
| Do you usually have a bulge or something falling out that you can see or feel in your vaginal area? (n=607) | .90 | ||
| Yes | 36 (11) | 32 (12) | |
| Do you ever have to push on the vagina or around the rectum to have or complete a bowel movement? (n=607) | .70 | ||
| Yes | 77 (23) | 69 (25) | 77 (23) |
| Do you usually experience a feeling of incomplete bladder emptying? (n=610) | .74 | ||
| Yes | 146 (44) | 128 (46) | |
| Do you ever have to push up on a bulge in the vaginal area with your fingers to start or complete urination? (n=608) | .56 | ||
| Yes | 13 (4) | 14 (5) | |
| POPDI-6 score (n=604) | 5.6 (0.0–22.2) | 5.6 (0.0–22.2) | .20 |
| Constipation | |||
| Bristol Stool Scale (n=609) | .13 | ||
| Type 1 or 2 | 74 (23) | 79 (28) | |
| Type 3–5 | 212 (65) | 177 (63) | |
| Type 6 or 7 | 42 (13) | 25 (9) | |
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