ESPE Abstracts

Introduction: Differences in sex development (DSD) comprise a heterogeneous group of congenital conditions that affect human sex determination and differentiation. We aimed to describe the clinical diagnoses of children with DSD who were referred to a pediatric tertiary center, and to examine trends in clinical features and management over three decades.

Methods: This is a retrospective, cross-sectional study of children with DSD who were under our care during 1990-2019. The cohort was sub-classified by DSD class and by the year of diagnosis: before and after the introduction of the current DSD consensus guidelines in 2006.

Results: The cohort included patients with 46, XY DSD (n=87, 78.5%); 46, XX DSD (n=15, 13.5%); and chromosomal DSD (n=9, 8%). For patients with 46, XY DSD compared to patients with 46, XX DSD, the mean age at presentation was younger (0.5±2.5 vs. 6.8±8.1 years, P=0.007), and a higher proportion presented by age 1 year (94% vs. 60%, P=0.001). Forty-four children were diagnosed during 1990-2006, and 67 during 2007-2019. While the proportions of DSD classes were similar between the two periods, prenatal diagnosis was more common in the recent years: 25.4% vs. 4.5% of the patients, P=0.004. Gonadectomy was performed in 22.9% of 46, XY patients; 6.6% of 46, XX patients; and 67% of chromosomal DSD patients. During 2007-2019 compared to 1990-2006, the proportions were lower of patients who underwent gonadectomy (16% vs. 36%, P=0.02), and of patients who had sex reassignment (1.5% vs. 11%, P<0.04).

Conclusions: An increase in the rate of prenatal diagnosis, and declines in the rates of gonadectomy and sex reassignment were shown over the course of three decades. Earlier diagnosis and the introduction of new advanced diagnostic tools enabled earlier and better management, using a patient-centered approach, by a multidisciplinary team.