Endocrine Abstracts

Introduction: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a 46,XX DSD condition associated with typical pubertal development, primary amenorrhea (absent uterus) associated with agenesis of the cervix and upper third of the vagina. Following diagnosis, optimal care strategy is unclear.

Objective: Evaluate i) input required from the DSD MDT ii) establish main care requirements iii) review interventions typically accessed via the specialist DSD clinic iv) understand the medical and psychosocial needs, to develop support pathways.

Method: Review of patients presenting with MRKH between 2020-2024. The following were assessed: MDT input, psychology interventions, endocrine assessment, and time accessing each speciality. The patient and/or caregiver(s) identified whether their priority needs were medical or psychosocial.

Results: Eight patients were referred, (25% (2/8) age < 15 y, 75% (6/8) 15-17y); 88% (7/8) were newly diagnosed. At diagnosis, 63% (5/8) had a joint appointment with the consultant endocrinologist and clinical psychologist. In total, 8 patients accessed 7 endocrine clinics, 8 DSD clinics, 13 psychology sessions and 5 joint appointments. Following diagnosis, the primary needs for all (100%, 8/8) were psychological not medical. Psychology intervention focused on: adjustment to diagnosis, understanding MRKH, future fertility and sexual function, self-image/identity support and navigating conversations with peers. Mean total time per patient for psychology support was 248 minutes vs 95 minutes for endocrinology. 1 patient declined further support, 1 has ongoing support, 2 are newly referred. 50% (4/8) were supported by psychology for referral to gynaecology to explore future sexual function, 12% (1/8) requested/needed dilatation. Endocrine appointments focussed on the same themes covered by psychology support. 50% (4/8) patients stated no further support was needed at present after 1-3 psychology sessions and reported reduced distress around diagnosis, increased understanding and adjustment to their diagnosis.

Conclusion: Following diagnosis of MRKH, psychology care rather than endocrine care, was the cornerstone of management. Care delivered by psychology was diverse, holistic and beyond targeted psychology interventions. We speculate that a joint appointment at the time of diagnosis, with psychology and endocrinology, was key to patients engaging with ongoing psychology care. Psychology care provision should be incorporated into standard care for patients with MRKH.