Background: We have proposed a simple and comprehensive scoring system to evaluate clinical features of differences/disorders of sexual development (DSD); however, its clinical evaluation has not been performed.
Aim: To evaluate the association between this newly proposed DSD scoring system (DSD-SS) and assigned gender in patients with 45,X/46,XY mosaicism.
Methods: DSD-SS involves evaluation of the external and internal genitalia, and gonads consisting of a) growth and b)fusion of scrotum/labia majora, c) glans penis development, d) urethral orifice position, e) presence or absence of the urogenital sinus, f) presence or absence of the uterus, and g) gonadal position (scrotal, inguinal, or abdominal). Each component has two to four ranks (for a score from 0 to 6). The sum of each score was calculated with complete male phenotype being attaining the score of 42. To determine the association of DSD-SS and assigned gender, we retrospectively evaluated 46 subjects with 45,X/46,XY mosaicism through their medical records. The scoring of external genitalia was based on direct evaluation of photographs. This study is approved by institutional ethical committees.
Results: Twenty-one subjects were male-assigned (M) and 25 were female-assigned (F), the latter of which included 12 subjects with Turner syndrome (TS). Subjects with TS were excluded from the subsequent analysis because they showed complete female external genitalia, the presence of uterus, and intra-abdominal gonads (score 0).The average score in M (N=21) was 25 and this was significantly higher than that of F (N=13)(score 10). Ninety-five percent of M scored equal to or above 19, whereas the score of 91% of F was lower than 19. The score of each component of external genitalia showed significant overlaps between M and F; however, total score of external genitalia showed minimal overlaps, suggesting the comprehensiveness of DSD-SS. All the F possessed uterus, indicating that the presence of uterus is an important factor for female assignment. Half of M showed the presence of uterus, but the total score of external genitalia in M was higher compared to F irrespective of the presence of uterus. The score of gonadal position showed significant overlaps between M and F.
Conclusion: The newly developed DSD-SS is useful in comprehensively evaluating the clinical features and DSD-SS based scoring well corresponded to the assigned gender in 45,X/46,XY mosaicism.
This is a side-by-side submission with the presentation by Nagamatsu et al. (submission No: 526)
19 - 21 Sep 2019
European Society for Paediatric Endocrinology