During Three Decades Prenatal Diagnoses of Differences in Sex Development Increased and Gonadectomy Rates Declined

The therapeutic approach to differences of sex development (DSD) has changed over recent decades. We aimed to describe the evolution of clinical diagnoses of DSD in children attending a tertiary paediatric centre.

This retrospective observational study compared diagnoses and management, before and after the introduction of consensus guidelines for DSD in 2006.

The cohort included 87 patients with 46, XY (78.4%), 15 with 46, XX (13.5%) and 9 with sex chromosomal DSD (8.1%). Gonadectomy rates were 27.9%, 6.6% and 66.6% for the respective groups. The mean age at presentation was younger among those with 46, XY than with 46, XX (0.5 ± 2.5 vs. 6.8 ± 8.1 years, p = 0.007) and a higher proportion presented by age one year (93.1% vs. 60.0%, p = 0.001). During 1990-2006, 44 children were diagnosed, and during 2007-2019, 67 children. Prenatal diagnosis increased from 4.5% to 25.4% (p = 0.004). Smaller proportions in the later than earlier period underwent gonadectomy (19.4% vs. 40.9%, p = 0.017) and sex reassignment (1.5% vs. 13.6%, p < 0.02).

Over the three-decade period, the rate of prenatal diagnosis increased and the rates of gonadectomy and sex reassignment declined. These findings reflect a shift towards earlier, individualised multidisciplinary care, which was facilitated by advanced diagnostics.