ESPE Abstracts

Background: To understand the quality of information that is available in the I-DSD Registry (https://sdmregistries.org/), this study aim ed to understand the extent of information that is available on the phenotype of the external genitalia in males that have been included with a condition associated with a suspected hypogonadal state and DSD.

Methods: A total of 3,248 male cases with a median current age of 16.9 years (range, 0.2, 85.3) from 106 centres from 38 countries, excluding those that had androgen excess, were identified.

Results: Within this cohort, 2,005 (62%) had a 46,XY karyotype, 725 (22%) had 47XXY or related variants, 204 (6%) had 45,X or related variants, 128 (4%) had 46,XX, and 186 (6%) had another karyotype. Of the 2,005 cases of 46,XY, 869 (43%) had non-specific XY DSD (NS-DSD), 345 (17%) had disorder of androgen action (DAA), 308 (15%) disorder of gonadal development (DGD), 231 (12%) disorder of androgen synthesis (DAS), 48 (2%) had Persistent Müllerian duct syndrome, 50 (2%) had hypogonadotrophic hypogonadism (HH), and 154 (8%) other disorders. Of the 128 male cases that were 46,XX, 113 (88%) had DGD, 2 (2%) had DAS, and the remaining 13 (10%) had another disorder. The genital appearance was described in 1,243 cases out of 3,248 (38%) cases. Information on the location of the meatus was available in 1,169 out of 1,243 (94%), of which 868 (74%) had hypospadias, with 168 (19%) being isolated and in 700 (81%) combined with other external genitalia anomalies. The location of the gonads was available for 1,163 out of 1,243 (94%) cases, with 577 (50%) having undescended testes. The appearance of labioscrotal folds was described in 1,147 (92%) cases, with a bifid scrotum evident in 351 (31%). The phallus size was described in 1,168 (94%) cases, with a record of micropenis in 616 (53%). In the group where all information on external genitalia was available (n, 1005), the median age (10^th, 90^th) was 15.4 years (5.7, 30.4).

Conclusion: Although the proportion of cases with detailed information on external genital phenotype in males with suspected DSD is about one-third, the actual numbers of cases with detailed data are suitable for long-term outcome studies. However, given the aetiological heterogeneity in males with DSD, there is a need to continue increasing the overall proportion of cases that have detailed phenotypic information.