7756 Gonadectomy in Individuals with Differences of Sex Development - A Prospective I-DSD Registry Study
Authors: O'Connell Michele Ann , Lucas-Herald Angela K , Bryce Jillian , Chen Minglu , Davies Justin H , Shnorhavorian Margarett , Atapattu Navoda , Bachynska Inna , Birkebaek Niels , Cools Martine , Demir Korcan , de Vries Liat , Elsedfy Heba , Fahmy Mohamed A B , Globa Evgenia , Grinspon Romina , Guaragna-Filho Guilherme , Guerra-Junior Gil , Janus Dominika , Kolesinska Zofia , Mazen Inas , O’Connell Susan M , Seneviratne Sumudu N , Stancampiano Marianna , Verkauskas Gilvydas , Faisal Ahmed S 
Published: October 2024

Disclosure: M.A. O'Connell: None. A.K. Lucas-Herald: None. J. Bryce: None. M. Chen: None. J.H. Davies: None. M. Shnorhavorian: None. N. Atapattu: None. I. Bachynska: None. N. Birkebaek: None. M. Cools: None. K. Demir: None. L. de Vries: None. H. Elsedfy: None. M.A. Fahmy: None. E. Globa: None. R. Grinspon: None. G. Guaragna-Filho: None. G. Guerra-Junior: None. D. Janus: None. Z. Kolesinska: None. I. Mazen: None. S.M. O'Connell: None. S.N. Seneviratne: None. M. Stancampiano: None. G. Verkauskas: None. S.F. Ahmed: None. O. i-DSD gonadectomy surveillance consortium: None.

Introduction: Gonadectomy may be indicated in people with differences of sex development (DSD), but variation in practice is reported. This study aims to determine, through prospective surveillance, the frequency of gonadectomy and associated care pathways in individuals with DSD internationally. Methods: All I-DSD centres were invited to participate; the study commenced in December 2022. Participating centres receive a monthly email asking whether a gonadectomy has been performed in an individual with DSD. Where informed consent for inclusion in the I-DSD Registry has been obtained in a reported case, a secondary survey captures additional clinical information. Results: Of 208 centres invited, 74 have responded to monthly email surveys. Over the first 12 months of surveillance, gonadectomies were reported in 71 individuals from 34 centres in 19 countries (median [range]: 1[1, 5]); 40 centres reported no gonadectomy. Secondary survey data are available for 30/65 (46%) of reported cases to date. Twenty-four (80%) individuals are female; median (range) age at gonadectomy was 9.2 (2.1,20.0) years. All had specialist multidisciplinary team involvement prior to gonadectomy: endocrinology (97%), genetics (77%) and psychology (67%) were most frequently involved. Gonads were intra-abdominal in 25/30 (83%). Differences of gonadal development (13/30 [43%]) and Turner syndrome (8/30 [27%]) were the most frequent underlying DSD. Pre-gonadectomy investigations included: hormonal testing (28/30 [93%]), imaging (23/30 [77%] - US alone n=14; US + MRI n=7; MRI alone n=2), direct visualisation at laparoscopy (7/30 [23%]) and gonadal biopsy (2/30 [7%]). Bilateral gonadectomy was undertaken in 25/30 (83%). Mitigation of future malignancy risk in the context of gonadal insufficiency was the most common primary indication for gonadectomy (19/30, [63%]); additional indications were concerning changes on biopsy/imaging (3/30 [10%]), hormone production incongruent with sex assigned (4/30 [13%]) or gender identity (2/30 [7%]) and parental choice (2/30 [7%]). Histopathology confirmed neoplastic change in 7 individuals (23%). Gonadectomy was intentionally deferred in 8/30 (27%) individuals, most commonly to allow their involvement in decision making. Twelve individuals (40%) were 12yrs or older at gonadectomy; all were involved in the pre-operative decision-making process. Conclusions: This study offers important contemporary insights into the practice of gonadectomy in individuals with DSD internationally. Multidisciplinary care provision prior to gonadectomy is standard; however, management pathways vary, likely reflecting diversity of clinical presentations and lack of consensus regarding optimal approach. The I-DSD platform shows clear utility for performing prospective surveillance of rare procedures; such studies are essential for care quality improvement.

Presentation: 6/2/2024