ESPE Yearbook of Paediatric Endocrinology

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...

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....

To read the full abstract: J Pediatr. 2019 Dec;215:192–198.Identifying the diagnosis in children with syndromic short stature and those with recognized genetic growth disorders is often challenging, as they may share many clinical features (1)(2). The candidate gene approach has many limitations in unveiling the genetic cause. Therefore, whole exome sequencing (WES) has been proposed to improve the diagnostic rate in children with short sta...