Prevalence of Intersex/Differences in Sex Development and Primary Gonadal Insufficiency in a Pediatric Transgender Population

Purpose: This study aims to assess the prevalence of intersex variations/differences in sex development (I/DSDs), associated adrenal conditions, and primary gonadal insufficiency in children with gender dysphoria.Methods: We performed a comprehensive review of the medical records for individuals who carried the diagnostic codes for gender dysphoria in addition to intersex and/or other conditions associated with sex steroid variations among patients evaluated by pediatric endocrinologists from 2013 to 2022.Results: We found that 9 of 612 (1.5%) transmasculine (TM) and 4 of 215 (1.9%) transfeminine patients had detectable I/DSDs. Although most patients were diagnosed with I/DSDs before evaluation of gender dysphoria, 4 of 13 (30.7%) were diagnosed with I/DSDs after being referred to endocrinology for gender dysphoria. In all cases, diagnoses were made by the endocrinologists evaluating for gender dysphoria. An additional 0.7% of TM patients were diagnosed with distinct hyperandrogenic adrenal conditions, and 1% of TM patients were diagnosed with primary ovarian insufficiency.Conclusion: The low, but clinically relevant, prevalence of I/DSDs, distinct adrenal conditions, and primary gonadal insufficiency in this transgender population supports the need for access to individualized expert medical care. Specifically, multidisciplinary clinics with experience in endocrinology may provide specialized support for the transgender community.