ESPE Yearbook of Paediatric Endocrinology

Brief summary: This cross-sectional single tertiary center study analyzed the aspects of sexual life and fertility desire among a large cohort of adults with 46,XY DSD in Brazil. The influence of critical variables such as external genital appearances, prenatal androgen exposure, and gender change in the sexuality of 46,XY DSD people were investigated.There is sparse literature on the sexual function of 46,XY DSD conditions due to their rarity and hetero...

Brief summary: This in vitro study reports that fully potent oocytes were generated from pluripotent stem cells of the tail of a sexually mature male mouse. These oocytes were able to give rise to offspring after fertilization.A particular challenge in the care of DSD patients in adulthood is the optimization of fertility potential. Fertility outcome is significantly reduced in all types of DSD depending on the underlying etiology as well as the...

Brief summary: In this in vivo study, Xia et al. demonstrate that AAV-mediated gene therapy recovers testosterone levels, restarts sexual development, restores spermatogenesis, and produces fertile offspring in a mouse model of Leydig cell failure (LCF).A null mutation in the gene encoding luteinizing hormone/choriogonadotrophin receptor (Lhcgr) causes a hereditary LCF in mice which is characterized by a reduction in testosterone levels...