ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nat Commun. 2020;11:1343.Li et al. describe a new genetic mechanism causing Pendred syndrome and extend evidence for an oligogenic origin of congenital hypothyroidism (CH). Autosomal recessive mutations in Pendrin (PDS/SCL26A4 ) were described in 1997 to cause Pendred syndrome [1]. However, over the years patients with either only heterozygous or even no mutation in PDS/SLC26A4 have been diag...

To read the full abstract: Cell 2017;170:199-212 e20T2DM has a disproportionate impact on persons of Latin American descent. GWAS in Mexican and other Latin American samples identified a haplotype containing four missense SNPs, all in SLC16A11, that were much more common in individuals with Native American ancestry than in east Asian, European and African samples. The association was stronge...

Brief summary: In May 2023, the European Atherosclerosis Society (EAS) released an update to its 2014 consensus on homozygous familial hypercholesterolemia (HoFH). The 2023 statement provides updated diagnostic criteria, screening recommendations, treatment algorithms, guidance about family planning, and new insights into the genetics of the disease.Comment: Here is a brief summary of the new findings and recommendations of the updated consensus:<p c...

EMBO Rep. 2020;21:e50612. doi: 10.15252/embr.202050612.This zebrafish study identified and molecularly characterized adult transcriptionally different thyrocyte subpopulations even within the same follicle.It is well established that within a thyroid gland, follicles are heterogenous concerning functional activity. More active follicles are characterized by a high co...

JAMA. 2020;323(4):339–351. doi: 10.1001/jama.2019.21565This study aimed to determine the prevalence of pre-symptomatic T1D in young children participating in a public health screening program for islet autoantibodies and the risk for progression to clinical T1D in children carrying multiple autoantibodies. On screening, 0.03% were found to have clinical T1D. Of the 0.31% who were foun...

J Clin Res Pediatr Endocrinol 2020 Dec 30.doi: 10.4274/jcrpe.galenos.2020.2020.0216– The characteristics of 44 patients with 46,XX congenital adrenal hyperplasia (CAH) who were raised as males were described– 15/44 (34%) were diagnosed before 2 years of age– The median final height was 149.2 (range 133–172) cmThis paper discusses an important ...

PLoS Genet. 2020; 16(10): e1009069. doi: https://doi.org/10.1371/journal.pgen.1009069The authors used mouse conditional gene knock-out models to investigate the role of Insulin-like growth factor-2 (Igf2) in pancreatic growth and function. When Igf2 was deleted specifically in mesenchyme-derived cells (but not when deleted in exocrine and endocrine cells), the entire pancreas was smal...

Eur Heart J. 2022 Mar 17:ehac112. PMID: 35296881, doi: 10.1093/eurheartj/ehac112.Brief Summary: This translational study explored the molecular and cellular mechanisms whereby testosterone impacts vascular function. The findings suggest that hypospadias is associated with vascular dysfunction and represents a risk factor for hypertension and cardiovascular disease in adulthood due to impair...

achim.kramer@charite.de Diabetes 2021;70:1985–1999http://www.ncbi.nlm.nih.gov/pubmed/34226282Brief Summary: This study analyzed gene expression in subcutaneous adipose tissue samples of adults with obesity collected before and after the hyperinsulinemic–euglycemic clamp or control saline infusion. They demonstrate that insulin regulat...

To read the full abstract: J Clin Endocrinol Metab. 2019;104:5765–5779.It is not clear whether retesting is needed for a healthy cotwin of a twin pair discordant for congenital hypothyroidism (CH) at the first neonatal screening. Medda et al. retrospectively analyzed a cohort of 47 twin pairs discordant for CH at the first neonatal screening. On follow-up, 7 (15%) of cotwins who were initially negatively screened then tested positi...