Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a female reproductive disorder characterized by the absence or underdevelopment of the uterus, cervix and vagina. Limited research has examined factors related to psychological adjustment in MRKH. This study aimed to explore associations among illness representations, self-concept, psychological distress, and self-esteem in MRKH.

Cross-sectional.

Participants were recruited globally online and from patient meetings.

A total of 263 patients with MRKH (age 16.1-74.4 years; mean = 31.7 years) completed questionnaires.

None.

Validated self-reported measures of psychological distress and self-esteem (outcomes) and illness representations, self-concept, social support-seeking, and positive affect (hypothesized correlates) were explored in correlation and hierarchical regression analyses, alongside demographic and clinical variables.

Younger age and shorter time since diagnosis was associated with higher distress and lower self-esteem. Patients with MRKH reported significantly higher distress and lower self-esteem than the general population. Higher distress and lower self-esteem were associated with higher reported engulfment (defining one's identity or feeling consumed by MRKH) and beliefs about the serious consequences of MRKH, and lower reported MRKH coherence, enrichment (positive changes to self-identity because of MRKH) and positive affect.

Findings suggest that the impact of MRKH on identity plays an important role in adjustment. High perceived coherence and maintenance of positive affect may play a protective role in psychological adjustment. A 12-month follow-up study is planned to examine associations among these variables longitudinally. Baseline data suggest that early availability of psychological support would be beneficial, and interventions focused on identity and psychoeducation about MRKH would be valuable.