ESPE Abstracts

Introduction: Gonadectomy may be indicated in people with differences or disorders of sex development (DSD). Based on historical data from the International-DSD (I-DSD) Registry that showed considerable practice variation, this I-DSD care quality improvement project seeks to determine, through prospective surveillance, the frequency of gonadectomy in individuals with DSD internationally.

Methods: All existing I-DSD centres were invited to participate; the study commenced in December 2022. Participating centres are sent a monthly email asking if a gonadectomy has been performed in a suspected or confirmed case of DSD. Where informed consent for inclusion in the I-DSD Registry has been obtained in a reported case, a secondary survey is issued to capture additional information on clinical management and outcomes. The study remains open to new I-DSD centres.

Results: Of 208 centres invited, 76 (37%) centres from 33 countries spanning all continents have been reporting monthly. Of the centres, the median (range) number of cases in the registry was 132 (1, 328). During the first 4 months of surveillance, a total of 34 gonadectomies have been reported from 22 (29%) centres in 15 (45%) countries. Of centres reporting a case, a median of 1 (0, 5) gonadectomy has been reported per centre. So far, 13/34 (38%) reported cases have been registered on the Registry with secondary surveys complete from 6 of these. Reported underlying diagnoses were disorder of gonadal development (n=3, [50%]), disorder of androgen action (n=2, [33%]) and chromosomal DSD n=1 [17%]). Five (83%) children were assigned female; median (range) age was 5.5yrs (3, 16). Gonadal position was intra-abdominal in five (83%) children and labio-scrotal in one (17%) child. Indications for gonadectomy included: mitigation of tumour risk in gonads with documented absence of function / gonadal insufficiency (n=3 [50%], all bilateral), abnormal gonad at laparoscopy (n=1[17%], unilateral), current hormone production incongruent with gender identity (n=1[17%], bilateral) and at parental request (n=1[17%], bilateral). Two children had atypical neoplastic change evident at histopathology: gonadoblastoma (n=1[17%]) and both dysgerminoma and seminoma (n=1[17%]). All individuals had been seen by a multidisciplinary team at a specialist centre for at least 1 year prior to gonadectomy.

Conclusions: Approximately 9 gonadectomies are currently reported in total per month in DSD specialist centres that are associated with I-DSD. The I-DSD platform shows clear utility for performing prospective surveillance of rare procedures; such studies are essential for care quality improvement and to inform future studies.