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 standardized instruments to measure quality of life and psychopathology. Additional questions concerning demographic variables and suicidality were included. Results: In both patient samples examined, 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.

Update on Mayer—Rokitansky—Küster—Hauser syndrome

This review presents an update of Mayer—Rokitansky—Küster—Hauser(MRKH)syndrome on its etiologic,clinical,diagnostic,psychological,therapeutic,and reproductive aspects.The etiology of MRKH syndrome remains unclear due to its intrinsic heterogeneity.Nongenetic and genetic causes that may interact during the embryonic development have been proposed with no definitive etiopathogenesis identified.The proportion of concomitant extragenital malformations varies in different studies,and the discrepancies may be explained by ethnic differences.In addition to physical examination and pelvic ultrasound,the performance of pelvic magnetic resonance imaging is crucial in detecting the presence of rudimentary uterine endometrium.MRKH syndrome has long-lasting psychological effects on patients,resulting in low esteem,poor coping strategies,depression,and anxiety symptoms.Providing psychological counseling and peer support to diagnosed patients is recommended.Proper and timely psychological intervention could significantly improve a patient’s outcome.Various nonsurgical and surgical methods have been suggested for treatment of MRKH syndrome.Due to the high success rate and minimal risk of complications,vaginal dilation has been proven to be the first-line therapy.Vaginoplasty is the second-line option for patients experiencing dilation failure.Uterine transplantation and gestational surrogacy are options for women with MRKH syndrome to achieve biological motherhood.