Quality of life and psychological distress in women with Mayer-Rokitansky-Küster-Hauser syndrome and individuals with Complete Androgen Insensitivity Syndrome

Purpose: This study examines quality of life and psychological distress in individuals with Mayer- Rokitansky-Küster-Hauser Syndrome (MRKHS) and Complete Androgen Insensitivity Syndrome (CAIS), two syndromes belonging to the field of “disorders of sex development”. Methods: Fifty women with MRKHS and eleven individuals with CAIS participated. The German versions of the World Health Organization Quality of Life Questionnaire (short version, WHOQOL-Bref), the Brief Symptom Inventory (BSI), and the Patient Health Questionnaire (PHQ-D) were used as standar- dized instruments to measure quality of life and psychopathology. Additional questions concern- ing demographic variables and suicidality were included. Results: In both patient samples ex- amined, general quality of life reported was in the average range (CAIS: mean z-score = −0.43, SD = 1.05; MRKHS: mean z-score = −0.11, SD = 1.06). The standardized instrument assessment revealed increased psychological distress (proportion of clinical cases according to the BSI: CAIS: 54.5%; MRKHS: 55.1%). A correlation between psychological distress and time span from first suspicion to diagnosis was found in women with MRKHS (Spearman’s rho = 0.35, p = 0.018). Conclusions: The results illustrate the importance of individualised and thorough diagnostics when dealing with patients with MRKHS or CAIS. Psychological distress might be an issue for these individuals and therefore should be considered in treatment and counselling.