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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...

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ey0019.6-10 | Basic and Genetic Research of DSD | ESPEYB19

6.10. Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46, XY differences of sex development

NL Gomes , RL Batista , MY Nishi , AM Lerario , TE Silva , Moraes Narcizo A de , AFF Benedetti , Assis Funari MF de , Junior JA Faria , DR Moraes , LML Quintao , LR Montenegro , MTM Ferrari , AA Jorge , IJP Arnhold , EMF Costa , S Domenice , BB Mendonca

J Clin Endocrinol Metab. 2022 Apr 19;107(5):e1797-e1806. PMID: 35134971, doi: 10.1210/clinem/dgac064. Brief Summary: This retrospective clinical research reports the clinical/biochemical, radiological, and genetic findings of a large cohort of 209 non-syndromic 46,XY DSD patients from a single tertiary center collected over the last 25 years in Brazil. A molecular diagnosis was achieved in 59....

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ESPE Yearbook of Paediatric Endocrinology

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

6.10. Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46, XY differences of sex development

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