Introduction: Although, there are several studies that use the external masculinisation score (EMS) for numerical description of the external genitalia in infants with DSD, data on change in EMS in the routine clinical setting are lacking.
Objectives: To determine the longitudinal change in EMS and its determinants in a cohort of boys with XY DSD in one specialist centre.
Methods: Observational study of boys with XY DSD who were evaluated by the DSD Diagnostic Board in Glasgow from 2010 to 2018. Calculations of EMS at initial (EMS1) and most recent (EMS2) assessments were performed based on information obtained from medical records. Surgical interventions (SI) including orchidopexies, hypospadias repairs, biopsies and orchidectomy and therapeutic interventions (TI) including testosterone therapy were also recorded.
Results: 171 boys with median age at initial and last assessment of 0.82yrs (range, 0.00, 16.73) and 4.67yrs (0.23, 19.05), respectively, were identified. Median follow-up time was 3.2yrs (0.08, 16.13). Median EMS, out of 12, at first and last assessment was 8.5 (2, 12) and 10.5 (3, 12), respectively (P<0.0001). Median change in EMS was 1.5 (-2, 9) with a median change of 0.49/yr (-1.21, 5.53). Of the 171 boys, 133 (78%) had an EMS2 higher than EMS1 with median change of 2 (0.5, 9) and median duration of follow-up of 3.76yrs (0.18, 16.13). There were 29 (17%) boys who had no change in EMS over the median follow-up period of 1.29yrs (008, 4.82). Of these 29 boys, 18 (62%) were waiting for surgery, in 8 (28%) no surgical intervention was required and 3 (10%) had a combination of orchidopexy with contralateral orchidectomy or testicular atrophy. In the remaining 9 (5%) there was a decrease in EMS by a median value of 0.5 (2, 0.5) over a median follow-up period of 4.7yrs (1.42, 14.05) and in all 9 there was a history of orchidectomy or spontaneous atrophy. SI were evident in 148 (87%) boys whereas TI were recorded in 10 (6%). There was no significant change in EMS in those who had TI and had no SI. A median EMS1 of 8 (2, 11.5) rose to 11 (3, 12) in the 161 (94%) boys who did not have any TI (P<0.001).
Conclusions: The EMS in boys with XY DSD improves over childhood and adolescence. The change in EMS in boys with DSD is poorer in those who do not have surgery and who are hypogonadal and require TI.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology