Long‐term outcomes and molecular analysis of a large cohort of patients with 46,<scp>XY</scp> disorder of sex development due to partial gonadal dysgenesis

Abstract

Spontaneous puberty was observed in 57% of the patients with 46,XY PGD, being NR5A1 defects the most prevalent ones among all the patients and in those with spontaneous puberty. Gender change due to gender dysphoria was reported by 12% of the patients. All the patients reported satisfaction with their final gender, and most of them with their sexual life.