Investigating the Prevalence of Pelvic Floor Symptoms Associated with MRKH

Müllerian agenesis, or Mayer-Rokitansky-Küster-Hauser syndrome, occurs in one in 4,500 to 5,000 individuals assigned female sex at birth and consists of congenital absence or underdevelopment of the Mullerian structures (uterus, cervix, and upper vagina), leading to uterine factor infertility and potential need for vaginal lengthening to participate in receptive vaginal intercourse. About 30% of patients have comorbidities that can affect skeletal, kidney, and heart development, or increase risk for endometriosis. While the tenets of care regarding MRKH include diagnosis, psychosocial support and general gynecologic care. This includes vaginal lengthening (if desired). Not previously well studied, individuals with MRKH anecdotally report pelvic floor symptoms. To investigate the prevalence of pelvic floor symptoms among individuals with MRKH, Christine Pennesi, MD, in conjunction with a multidisciplinary research team including Elisabeth Quint, MD, pediatric and adolescent gynecology, and Carolyn Swenson, MD, urogynecology, both at Michigan Medicine, and Amy Lossie, PhD, from patient-led support and advocacy organization Beautiful You MRKH 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.

This work identified a high prevalence of self-reported pelvic floor symptoms. Over 800 individuals responded to the survey, and 615 met study inclusion criteria. Specifically, of individuals with Mayer-Rokitansky-Küster-Hauser syndrome, 70% reported having one or more urinary symptoms, 79% reported being bothered by these symptoms. Urinary symptoms included urinary incontinence (34%), urinary frequency (40%), urinary urgency (40%), pain with urination (16%), and recurrent urinary tract infections (29%). Prolapse symptoms included lower abdominal pressure (41%), pelvic heaviness or dullness (29%), and vaginal bulge (11%). In addition, 25% of respondents reported constipation and anal incontinence. This research identified that urinary, prolapse and bowel symptoms were common among individuals with Mayer-Rokitansky-Küster-Hauser syndrome and, thus, should be screened for and evaluated in this population.

Based on the critical care gaps identified with regard to psychosocial support and the above research related to frequent pelvic floor symptoms, Pennesi led the development of a multidisciplinary MRKH Center at Cincinnati Children’s centered around pediatric and adolescent gynecology and gynecology nursing expertise. As part of our multidisciplinary team approach to MRKH care, our pelvic therapy experts offer evaluation and treatment of urinary and bowel symptoms in addition to pelvic floor pain and vaginal lengthening challenges. Additionally, our social work and psychology providers help to support the psychosocial aspects of the diagnosis and its impact on individuals and their families. Together, our multidisciplinary care team – which includes pediatric and adolescent gynecology, psychology, social work, nursing, pelvic floor therapy and a referral network of pediatric subspecialists (urology, nephrology, cardiology, orthopedics, genetics) – helps to fill the care gaps identified by prior research, including the above study by Pennesi in collaboration with Michigan Medicine and Beautiful You MRKH research team.

Identifying Treatment Patterns for Pediatric Vulvoperineal Lichen Sclerosus

Lichen sclerosus is a chronic inflammatory condition affecting the anogenital skin of prepubertal girls (and post-menopausal women), causing whitening of the vulvar perineal skin in a classic figure of eight pattern, skin atrophy or wrinkling, bruising (purpura), skin splits (fissures), and loss of normal architecture including scarring of the introitus. The diagnosis is often missed or delayed, likely due to delay in presenting to care and lack of familiarity and comfort among practitioners in diagnosing and treating vulvar dermatoses. It takes an average of one to two years from onset of symptoms to correct diagnosis based on prior studies (Focseneanu et al., 2013). Due to the risks of untreated disease, treatment and close follow-up are critical; however, evidence-based protocols for treating pediatric LS are not lacking.

Pennesi and pediatric dermatology colleague Kalyani Marathe, MD, MPH, director of the Division of Dermatology, collaborated with a research team at Children’s National to develop a comprehensive survey of dermatology and gynecology providers. The cross-sectional study used a 35-question survey to assess knowledge, attitudes and management practices for patients with pediatric-onset LS. Over 100 providers responded to the survey making this study the largest of its kind to date describing treatment patterns among specialists treating pediatric vulvoperineal lichen sclerosus. Limited evidence-based guidelines for managing pediatric vulvoperineal lichen sclerosus mean this study helped highlight treatment trends so that further studies will identify evidence-based best treatment protocols for pediatric LS.

To provide patients with comprehensive care and surveillance, Pennesi and Marathe hold a monthly interdisciplinary clinic for pediatric and adolescent vulvar skin conditions at the main and Liberty campuses. Through this clinical care, Pennesi and Marathe strive to continue to improve care of individuals with lichen sclerosus. Future research endeavors include standardizing the physical exam assessment and disease surveillance as well as investigations on the impact of pediatric vulvoperineal lichen sclerosus on quality of life.

Reproductive Anomalies: Diagnosis, Management, and Quality of Life-Long Term Outcomes

Anorectal malformations (ARM) encompass a variety of anomalies. They are often characterized by an imperforate anus with a rectal fistula that opens along the length of the perineum, vestibule or vagina. Cloaca is the most complex of these malformations. It affects the rectum and urogenital tract, presenting at birth in females with a single perineal orifice leading to a common channel in which the urethra, vagina, and rectum converge. Initial surgical repair involves complex management decisions related to the urethra, bladder, ureters, vagina(s) and distal colon, with the goal to achieve urinary and bowel control. Later, menstrual egress and sexual and obstetric function become important. Patients with ARM are at increased risk for reproductive anomalies, such as uterovaginal duplication with vaginal septum. The type of gynecologic anomaly, the repair performed, and various other factors can affect menstrual health, sexual function and reproductive outcomes in these patients.

There have only been a few studies to focus on the reproductive and sexual function of adult patients with a history of cloaca. Lesley Breech, MD, previously led a project in our institution (using a validated Female Sexual Function Index) suggesting that patients with ARM had similar sexual function no matter whether they underwent vaginal reconstruction and / or replacement. Sexual function in women with ARM appeared inferior to the general population but superior to women with known female sexual arousal disorder. A survey by other authors of patients with ARM demonstrated incontinence, lack of desire, and concern for pain are issues suggested by patients. This same study suggested women were more likely to ask gynecologists for advice about sexuality or intimate relationship than any other person. Breech in collaboration with Lissa Yu, MD, and Michelle McGowan, PhD, recently completed a qualitative study to gather patients’ values, perspectives and recommendations to confirm and update these findings. Not surprisingly, when presented at both the North American Society of Pediatric and Adolescent Gynecology Annual Clinical and Research Meeting and the Pediatric Colorectal and Pelvic Learning Consortium annual meeting, they noted patients with ARM face particular gynecologic concerns and desire care by gynecologic providers well-versed in their diagnoses. Like many young people, these patients desire guidance about sex and family building throughout adolescence and adulthood. This desire for guidance becomes particularly important with the anatomic changes associated with their surgical history and ongoing health concerns. Barriers to sexual wellness include the role of bowel and bladder management, self-image concerns, and pain and lack of sensation with penetrative intercourse. Involving gynecologists early and frequently in care for patients with cloaca allows for longitudinal reproductive care in these patients with complex medical and surgical histories. In her role as the lead gynecologist in both the Colorectal Center and the Urogenital Center at Cincinnati Children’s Hospital Medical Center, Breech has a unique opportunity to translate these findings into additional studies and / or improvement in both the clinical and surgical care of girls and young women born with congenital reproductive anomalies, especially in association with anorectal malformations.