Introduction: Although a number of studies have reported on the External Masculinisation Score (EMS) and have validated its use for numerical descriptions of the external genitalia, the methodology in these studies has not considered longitudinal changes in EMS.
Objectives: To examine longitudinal changes in EMS in boys with XY Disorders of Sex Development (DSD) and determine the causes of these changes.
Methods: All boys of confirmed or presumed karyotype 46,XY who were reviewed at the DSD clinic at the Royal Hospital for Children in Glasgow from 2010 to 2018 were included. Patients on the I-DSD Registry and those who underwent an hCG stimulation test were also included. The information required to calculate the first and latest scores was obtained from medical records. Surgical interventions (SI) orchidopexies, orchidectomies, hypospadias repairs, and biopsies as well as therapeutic interventions (TI) testosterone therapy were recorded. Total EMS was calculated at first assessment (EMS1) and at the latest assessment (EMS2). This calculation was done in duplicate by two independent authors. Any discrepancies found were discussed and resolved.
Results: In total, 143 boys were identified, with a median age of 0.93 years (range 0.0016.93 years) and 4.58 years (range 0.4519.05 years) at EMS1 and EMS2, respectively. Median interval time between EMS1 and EMS2 was 3.26 years (range 0.2715.48 years). Median EMS out of 12 was calculated as 9.0 (range 1.512.0) and 11 (range 312) at first and latest assessment, respectively (P<0.0001). Median change in EMS was 2 (range 911). Of the 143 boys, 121 had solely SI, one had solely TI, five boys had both SI and TI, and 16 boys had no intervention. In boys who had SI (n=121), 120 showed changes in their EMS. In boys who had TI (n=6), two showed changes in EMS, but this could also be attributed to their SI. There was no significant change in EMS in boys who had TI and no SI.
Conclusion: EMS increases over childhood and adolescence, and the main determinant of this increase is surgical intervention. Testosterone therapy is not a cause of EMS changes, but more research needs to be undertaken in a larger patient cohort.
27 - 29 Nov 2019
British Society for Paediatric Endocrinology and Diabetes