(85) Medical History & Sexual Function and Satisfaction (PROMIS SFS) Profile in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome Patients: Preliminary Findings and Call for US & International Enrollment

Background: Mullerian agenesis, also known as Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome, is a rare congenital anomaly whose etiology and long-term health outcomes are still not well known. While most cases are sporadic, cases of familial clustering indicate a possible genetic cause. Renal, skeletal, auditory, and cardiac anomalies are known to be associated with MRKH. Little is known regarding other health outcomes including overall well-being and sexual function.

Case: Through the NICHD Pediatric and Adolescent Gynecology Conditions protocol (https://clinicalstudies.info.nih.gov/ProtocolDetails.aspx?id=2020-CH-012 ), detailed medical and quality-of-life information is collected. Since January 2022, n=8 MRKH patients enrolled in this protocol with medical history notable for 1 patient with a missing kidney, 1 with a kidney located in the pelvis, and 1 patient with a clubfoot. A detailed family history (FH) was also collected for n=7 patients. Two patients had a FH of missing kidney or kidney failure, 1 had a maternal grandmother with uterus didelphys, and 1 with FH of acoustic neuroma.

Additionally, n=5 completed a Body Image Scale (BIS) and n=4 completed the validated Patient-Reported Outcomes Measurement Information System (PROMIS) for sexual function and satisfaction (SFS). The BIS ranges from 0 to 30, with a score of 10 or higher indicating body image dissatisfaction. Scores ranged from 2 to 11 with the highest BIS in the oldest patient in the cohort.

The PROMIS SFS profile includes sexual activity interest, lubrication, vaginal discomfort, orgasm ability and pleasure, and satisfaction with sex life. A t-score is calculated in comparison to a sampled healthy US female population. Two patients had decreased interest in sexual activity and 3 patients were sexually active in the past 30 days. One patient had a decreased lubrication t-score more than 2 SD below the mean.

Comments: The goal of our prospective deep phenotyping protocol is to increase our cohort of patients with MRKH and collect detailed medical history, family history, and sexual health and body image survey data within this patient population. By evaluating a variety of other conditions, symptoms, and family history, we aim to better characterize co-occurring medical conditions as well as family history that could provide insight into the underlying causes and associated conditions with MRKH. Additionally, we aim to utilize the PROMIS SFS profile and BSI to better understand sexual health function and long-term outcomes experienced by this group of patients.