ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Endocrinology. 2017 Jul 1;158(7):2102-2112Gestational diabetes mellitus (GDM) produces fetal hyperglycemia with increased lifelong risks for the exposed offspring to cardiovascular and other diseases. In-utero exposure to GDM alters metabolic programming in newborns and their placenta, cord tissues, and cord blood. Human umbilical cord mesenchymal stromal cells (hUC-MSCs...

Brief summary: In the prospective population-based Growing Up in Singapore Toward Healthy Outcomes (GUSTO) study (n=437 children, 51.9% boys), the effect of parent-reported screen time in infancy was tested on EEG characteristics and correlated to cognitive outcome. Mean daily screen time at 12 months of age was 2 hours. Infant screen time was associated with altered cortical EEG activity at 18 months and was suggested to explain observed alterations in attention and ...

To read the full abstract: J Clin Invest. 2020;130:1479–1490.This detailed genetic and molecular analysis of a three-generation family reveals a new form of autosomal dominant tumor susceptibility syndrome entitled familial multinodular goiter (MNG) with schwannomatosis. Biallelic alterations of the DGCR8 gene were found in all affected patients: First, all patients harbored the same heterozygous germline mutation p.E518K. Secondly...

Brief Summary: This study investigated congenital hypothyroidism (CH) due to dominantly inherited resistance to TSH (RTSH) in 12 unrelated families. It reveals that mutations in a non-coding (TTTG) short tandem repeat (STR) on chromosome 15q cause this condition by activating a thyroid-specific enhancer cluster. Functional studies showed that activation of this enhancer cluster leads to upregulation of the bicistronic MIR7-2/MIR1179 locus, resulting in overexpression of its mi...