Analysis of gender assignment in children with 46, XY disorders of sex development.

Objective·To explore the results of gender assignment of the patients with 46, XY disorders of sex development (DSD), and provide reference for clinical decision-making of similar patients. Methods·The clinical data of 46,XY DSD patients who were treated in Children's Hospital of Shanghai Jiao Tong University from 2015 to 2018 were collected. All the patients completed comprehensive assessments in the Department of Pediatric Endocrinology. Gender assignment was carried out after multidisciplinary treatment team discussion and full communication with the patients and/or the family members. The gender assignment results of these patients with different conditions were analyzed. The follow-up began 1 month after operation until 18 years old. Psychological assessment was performed after puberty. Results·A total of 52 patients with 46,XY DSD were collected. Before admission, 26 cases were female and 26 cases were male. Thirteen female patients were assigned to the same gender, among whom 6 cases were diagnosed as having complete androgen insensitivity syndrome, 2 cases diagnosed as having 17α-hydroxylase deficiency with extremely poor testicular function, 1 diagnosed as having complete gonadal dysplasia, and 4 diagnosed as having testicular dysfunction; otherwise 13 female patients changed gender to male, because 3 patients had partial androgen insensitive syndrome, 4 patients had 5α-reductase deficiency, 2 patients had androgen synthesis disorder, and the etiology of 4 patients was unknown (gonadal biopsy showed that both gonads of the patients were testicular tissues). All the 26 male patients were assigned to the same gender, among whom 11 cases were diagnosed as having 5α -reductase deficiency, 6 diagnosed as having partial androgen insensitivity syndrome, 4 diagnosed as having androgen synthesis disorder, and 5 cases with unknown etiology (gonadal biopsy showed bilateral testicular tissues in 2 cases and unilateral gonadal dysplasia with contralateral testicular tissue in 3 cases). Thirteen patients who reached the age of psychological evaluation did not exist gender identity confusion. Conclusion·The 46,XY DSD patients with complete gonadal dysplasia, complete androgen insensitivity syndrome or testicular dysfunction can be considered for female gender assignment. The patients with 5α-reductase deficiency or partial androgen insensitivity syndrome can be considered for male selection. For the children with unknown etiology, it should be considered comprehensively according to the specific phenotype and the actual situation of children's families. [ABSTRACT FROM AUTHOR]