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Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis

Clinical Endocrinology Jun 23, 2018

Gomes NL, et al. - In this retrospective longitudinal study, the researchers investigated the long-term outcomes of patients with 46,XY partial gonadal dysgenesis (PGD) regarding testosterone production, germ cell tumour risk, genotype and psychosexual adaptation. This study was conducted on 33 patients (20 assigned male and 13 patients assigned female at birth). According to the findings obtained, spontaneous puberty was seen 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. By 12% of the patients, gender change due to gender dysphoria was reported. It was observed that all the subjects reported satisfaction with their final gender and most of them with their sexual life.
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