Gonadectomy Practices in a Multidisciplinary Differences of Sex Development Clinic Support a Risk-Stratified Approach

To evaluate gonadal management practices among pediatric patients with differences of sex development (DSD) at increased risk for gonadal tumors cared for in a multidisciplinary setting.

Patients evaluated within the multidisciplinary clinic for gonadectomy between 2013-2024 were retrospectively reviewed. Eligible patients were stratified into tumor risk categories: high, intermediate, and low. Descriptive statistics characterized gonadectomy practices for the cohort, including stratification by tumor risk category and study year.

Eighty-one patients were included. The most common diagnoses were Turner syndrome with Y chromosome material (TS+Y) (N=23), Complete Androgen Insensitivity Syndrome (CAIS) (N=15), and Mixed Gonadal Dysgenesis (N=12). The proportion undergoing gonadectomy differed significantly by tumor risk: 96% for high-risk (24/25), 63% for intermediate-risk (20/32), and 38% for low-risk (9/24). Median age at gonadectomy was significantly different, with younger ages observed among higher-risk patients (median: 6.7 years in high-risk, 9.7 years in intermediate-risk, and 16.4 years in low-risk diagnoses). Tumors were present in nine patients (7 gonadoblastoma, 2 dysgerminoma, all high- or intermediate-risk). Two-thirds of tumors occurred in patients with complete gonadal dysgenesis [CGD]).

Gonadectomy frequency and age at surgery differed by tumor risk category, with higher-risk patients with DSD undergoing gonadectomy more often and younger. Across study years, there was no significant change in the proportion undergoing gonadectomy or in age at surgery. These findings support risk-stratified gonadal management, including deferring gonadectomy until after puberty in CAIS, and emphasizing discussion rather than default removal in TS+Y. Gonadectomy remains important for high-risk DSD diagnoses, particularly CGD.