Available online 15 March 2024

The diagnosis of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is often a lengthy process that typically occurs during late adolescence. To support optimized and patient-centered care, this study aimed to investigate how women with MRKH syndrome experience the diagnostic process.

From January 2021 to March 2021, we conducted in-depth interviews with 18 Danish women (≥25 years) diagnosed with MRKH syndrome. The interviews lasted a median of 92 minutes (range: 67-117). Data were analyzed using thematic analysis.

As teenagers or young women at the time, all women had experienced the diagnostic process in the non-specialized healthcare sector as deeply upsetting due to distressing gynecological examinations, use of inappropriate language, and considerable diagnostic delay. When reaching the specialized healthcare sector, questions could finally be answered, but this information and support did not significantly alter their feelings of being 'deviant' or 'flawed'. The women continued their diagnostic odyssey beyond the healthcare system and found online communities that gave them valuable support in living with MRKH syndrome.

Women experience the diagnostic odyssey of MRKH syndrome as upsetting and potentially traumatizing beyond the diagnosis. Healthcare professionals can influence young women's understanding and experience of MRKH syndrome by using inclusive language (e.g. avoiding 'deformity') and addressing all that is normal and functioning (e.g. external genitalia and potential for sexual pleasure). In non-urgent conditions, young women should be given the choice to delay a genital examination.

Mullerian aplasia

MRKH

vaginal agenesis

46,XX DSD

qualitative research

© 2024 Published by Elsevier Inc. on behalf of North American Society for Pediatric and Adolescent Gynecology.