Endocrine Abstracts

JOINT1019

A multidisciplinary team (MDT) approach is recommended to provide holistic patient-centred care for those affected by Differences in Sex Development (DSD). We evaluated regional DSD services in a large Children’s hospital with the aim to investigate 1) clinical outcomes for patients, and 2) patients/caregivers’ experiences of the service.

Methods: Electronic records of all patients who attended the DSD MDT clinics over a 5-year period (2019-2023) were reviewed retrospectively for clinical outcomes. Feedback using questionnaires (7 items on 5-point Likert-scale) and semi-qualitative survey (4 items) completed by a subset of patients/caregivers attending 3 clinics during 2024 were analysed.

Results: Fifty-eight patients were reviewed at 98 appointments. Median age at the start of this study was 4.4 years (36 days-17.9 years). Karyotype was 46XY in 30 (51.7%), 46XX in 23 (39.7%) and other in 5 (8.6%) patients. Pathophysiology categorization suggested defects in gonad differentiation in 22 (38%) [19 (33%) gonadal dysgenesis, Mullerian ducts in 3 (5%)], steroid biosynthesis in 22 (38%), androgen action in 11 (19%) and unknown in 3 (5%). A definitive diagnosis was made in the DSD clinic in 33/58 (56.9%). The commonest diagnosis was 21 hydroxylase deficiency congenital adrenal hyperplasia (n = 15, 25.9%). Before attending the clinic, gender assigned was male for 21 (36.2 =%) and female for 37 (63.8%) patients. Reconstructive genital surgery had been done in 21/58 (36.2%) patients before they attended the clinic. Specialists in endocrinology, urology, clinical psychology, clinical genetics, nursing and biochemistry were present at each clinic. MDT discussions with patients/caregivers led to complex decisions about gender reassignment from female to male (n = 3), prophylactic gonadectomy owing to risk of malignancy (8/19, 42.1% patients with gonadal dysgenesis; 4/9, 44% with androgen insensitivity) and external genital surgery (n = 10, 17.2%). All 9 patients/caregivers who attended 3 clinics completed questionnaires; 100% were ‘very satisfied’ with the clinic and found the MDT ‘very helpful’, 89% ‘felt comfortable asking questions’ and over 75% ‘understood everything about their complex condition’. Semi-qualitative review suggested that the clinic was meeting the needs of patients/caregivers, and no changes were requested.

Discussion: This MDT clinic contributed to shared decisions for complex interventions, including gender reassignment, prophylactic gonadectomy and reconstructive genital surgery, supported by positive feedback from patients/caregivers. From the feedback responses, the MDT recognizes a need to give patients/caregivers more opportunities and encouragement so that they feel completely comfortable asking questions, and which may contribute to enhancing their understanding about their complex condition.