ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2020 Apr 1;105(4). PMID: 32170320In congenital hyperinsulinism (CHI) there is dysregulation of insulin secretion that leads to persistent hypoglycaemia. Mutations in the ABCC8/KCNJ11 genes which encode the pancreatic KATP channels proteins (SUR1/KIR6.2 respectively) are the most common causes of CHI. Mutations ...

To read the full abstract: Diabetes Care. 2019 Jun;42(6):1009–1017. PMID: 30967436Gestational diabetes mellitus (GDM) is increasing in incidence, affecting approximately 14% of pregnancies. Preventing GDM may significantly improve outcome for both mothers and offspring. The pathogenesis of GDM involves insulin resistance, pancreatic beta-cell failure and an increase in inflamm...

To read the full abstract: Genet Med. 2020, Jan; 22: 150-9. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/pdf/41436_2019_Article_606.pdfMassive parallel sequencing of 145 46,XY DSD patients revealed 13 individuals with heterozygous missense pathogenic variants in the RNA helicase DHX37, explaining 11% of cases of 46,XY gonadal d...

Lancet Diabetes Endocrinol. 2021;9:94–105. doi: 10.1016/S2213-8587(20)30399-5.This population based nested case-control study integrated registry data from Denmark, Norway, Sweden and Finland over 40 years to investigate the association of maternal, in-utero, and postnatal factors with thyroid cancer risk in offspring. Each patient with thyroid cancer (cases n=...

Brief summary: This observational study aimed at clarifying the contribution of pathogenic copy number variants (PCNVs) and candidate pathogenic variants in 86 children born small-for-gestational-age with short stature (SGA-SS).Approximately 10% of children born SGA do not show catch-up and remain permanently short (SGA-SS) (1,2). There is increasing evidence suggesting that genetic abnormalities underlie a high proportion of SGA-SS children. In this stu...

Thyroid. 2021:387–419. doi: 10.1089/thy.2020.0333.These updated ENDO-European Reference Network (ENDO-ERN), European Society for Paediatric Endocrinology (ESPE) and European Society for Endocrinology (ESE) guidelines for congenital hypothyroidism will serve as comprehensive review of the literature providing recommendations to all aspects of the disease.The first ...

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...

Nat Commun. 2021 Jul 21;12(1):4446. doi: 10.1038/s41467-021-24748-8. PMID: 34290257Brief Summary: Jaundice is a major clinical sign of congenital hypothyroidism. LT4 treatment in hypothyroid neonates normalizes jaundice rapidly by inducing hepatocyte maturation. This mouse model study investigated the molecular mechanisms of thyroid hormone induced hepatocyte differentiation. A postnatal a...

Endocrinology 163, bqac005. (2022).Abstract: https://pubmed-ncbi-nlm-nih-gov/35041746/In Brief: C-type natriuretic peptide (CNP) is known to stimulate enchondral bone formation, but the distinct cellular pathways and cellular targets are unclear. This study used in vivo and in vitro biosensor systems to identify cGMP-induced activation of PKA as a major effect of CNP with growth promoting e...

Sci Adv. 2022; 8(16): eabn8485. PMID: 35442744https://pubmed.ncbi.nlm.nih.gov/35442744/Brief Summary: This histologic and transcriptomic study of human and primate adrenal tissue samples provides a molecular framework to understand the fetal development of the adrenal gland.The adrenal cortex is the major source of steroid hormones that drive a plethora of critical ph...