ISSN 1662-4009 (online)

Previous issue | Volume 20 | ESPEYB20

Yearbook of Paediatric Endocrinology 2023

ey0020.4-4 | Novel Players in the Pathogenesis of DSD | ESPEYB20

4.4. Elevated plasma miR-210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development

FM Elias , MY Nishi , MHP Sircili , RL Bastista , NL Gomes , MTM Ferrari , EMF Costa , FT Denes , BB Mendonca , S Domenice

Brief summary: This translational study showed an increased plasma expression of miR-210 in individuals with 46,XY DSD compared to the control population and also showed a positive association between the presence of atypical genitalia and plasma levels of miR-210 expression in individuals with 46,XY DSD. The findings of this study contribute to a novel perspective on the possible role of miRNAs in the development of the male external genitalia and in the development of phenot...

ey0020.4-5 | Novel Players in the Pathogenesis of DSD | ESPEYB20

4.5. CDYL reinforces male gonadal sex determination through epigenetically repressing Wnt4 transcription in mice

N Okashita , R Maeda , M Tachibana

Brief summary: This in vivo study identifies a new gene, CDYL (Chromodomain Y-like protein) in the epigenetic control of sex determination in mice.Recent findings on mammalian sex development suggest that the fate decision of bipotential gonads depends not only on transcriptional activation of Y-linked testis-determining gene (SRY/Sry) but also on a delicate expression balance between the mutually antagonistic pro-testis and pro-ovarian genes. P...