ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2021;106: e1002–e1013. https://pubmed.ncbi.nlm.nih.gov/33141175/This cross-sectional study applied a commonly used system to classify reproductive aging (Stages of Reproductive Aging Workshop +10 or ‘STRAW +10’) to 338 adolescents and young adult (AYA) cancer survivors (1). The study aimed to evaluate if STRAW +10 correctly identifies premature ovaria...

To read the full abstract: J Clin Invest 2018;128:960-969Mouse models for PWS are urgently needed to facilitate drug development for treatment of hyperphagia and obesity in PWS patients. Here, the authors set out to create a mouse model that better recapitulates human PWS; they chose Snord116 as the target. Snord116 comprises a cluster of noncoding RNAs (ncRNAs) on paternal chromosome 15q11.2. Deletio...

Brief Summary:This study in mice shows that insulin-like growth factor 2 (IGF2), encoded by an imprinted gene and expressed by placental endocrine cells, is essential for the adaptive changes in maternal glucose and lipid metabolism during pregnancy to promote fetal growth. Failure of this adaptive program during pregnancy also resulted in metabolic dysfunction of offspring mice later in their life.IGF2 has been longer known to be involved in the regulat...

Nat Med, 2021 Jun;27(6):1088–1096. 10.1038/s41591-021-01349-y. https://pubmed.ncbi.nlm.nih.gov/34045736/This paper reports the high prevalence of MC4R loss-of-function (LoF) variants in a normal population and their large impact on longitudinally assessed anthropometric traits from birth to young adult life.Th...

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...

To read the full abstract: Genome Res 2018;28:423–431The discovery of a mummified humanoid female skeleton on a shelf in a building in La Noria, Chile in 2003 created enormous scientific and popular interest. Its highly unusual appearance included a length of only 6 inches despite a bone age of 6–7 years old, marked turricephaly (a cone-shaped top of the skull), and reduced number...

To read the full abstract: N Engl J Med. 2019 Oct 31;381(18):1707–1717. doi: 10.1056/NEJMoa1907863. PMID: 31618560Despite advances in diabetes care, attaining good glycemic outcomes in patients with type 1 diabetes (T1DM) remains challenging and often is not achieved. For example, the targets set by the American Diabetes Association are met in only a minority of patients. It is hoped th...

Nature. 2021 Nov;599(7885):436-441. doi: 10.1038/s41586-021-04088-9. Epub 2021 Nov 3. PMID: 34732894. https://www.nature.com/articles/s41586-021-04088-9Brief Summary: This combination of a multi-cohort and animal studies describes the clinical impact of MC3R gene mutations. The authors identified a clinical syndrome ...

Brief Summary: this large patient cohort study identified an overrepresentation of functionally damaging variants in MC3R in individuals with constitutional delay of growth and puberty but not in patients with IHH.Melanocortin 3 receptor (MC3R) is a permissive signal expressed by hypothalamic kisspeptin-neurokinin B-dynorphin (KNDY) neurons. It activates puberty through the leptin-proopiomelanocortin pathway in response to nutritional signaling<...

Brief Summary: This exome-wide association study conducted in the UK Biobank cohort (n=454 787) and in two non-European cohorts, the Mexican MCPS cohort (n=141 046) and the Pakistani PGR cohort (n=37 800), identified a association between rare protein-truncating variants (PTVs) in the APBA1 and the BSN genes and adult-onset obesity, suggesting two new genes as possible causes for monogenic obesity. Rare PTVs in BSN were also associated with Type 2 di...