ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2021 Mar 25;106(4):1111–1128.https://pubmed.ncbi.nlm.nih.gov/33382876/In this multicentre patient cohort study, the authors investigated the use of targeted metabolomics to discriminate primary hypertension (PHT) from endocrine forms of hypertension (EHT). They identified 16 metabolites that help to discriminate between PHT and EHT.Arteri...

To read the full abstract: Eur J Pediatr 2017; 176:873-879Achondroplasia (ACH) is the most common genetic form of disproportionate short stature, occurring in 1:15,000 –1:40,000 live births [28]. Most patients have a gain of function mutation in the transmembrane domain of the fibroblast growth factor receptor 3 (FGFR3), leading to prolonged intracellular MAPK signalin...

Brief summary: This randomized, controlled study in healthy-weight individuals examined the effect of a daily high-fat/high-sugar (HF/HS) intervention over 8 weeks on fat and sugar preference, alterations of brain response to food and sensory associative learning. It addressed the question, whether the association between obesity and altered brain function is pre-existing, is secondary to obesity or is attributed to western diet.Current models of obesity...

Front Endocrinol (Lausanne). 2020 Nov 27;11:603021. doi: 10.3389/fendo.2020.603021. PMID: 33329403.This and previous studies have shown that Gestational diabetes mellitus (GDM) alone and maternal obesity/overweight are associated with alterations in the newborn gut microbiota. In this study, there were significant alterations in the newborn gut microbiota species at 2 weeks of age.<p...

To read the full abstract: J Clin Invest 2017;127:3861-3865Metaphyseal chondrodysplasia, Schmid type (MCDS) is an orphan disease with highly abnormal endochondral ossification causing shortening and deformities of the limbs, impairment of mobility and chronic pain. As for most skeletal dysplasias, current treatment options remain symptomatic due to the lack in causal therapeutic measures. In the actua...

Sci Transl Med. 2021; 13(596): eabc0555. PMID: 34078742https://pubmed.ncbi.nlm.nih.gov/34078742/Brief Summary: These in vitro and in vivo studies show that the brain penetrant PPARγ agonist leriglitazone restores multiple biological pathways relevant for neuroinflammatory and neurodegenerative diseases, and particularly for X-linked adreno-leukodystrophy (X-AL...

Brief summary: Growth Hormone (GH)-Insulin-Growth-Factor-1 (IGF-1) axis plays the major role in promoting growth, but novel factors seem to modulate GH-IGF1 axis functioning. The majority of circulating IGF-1 and IGF-2 are bound to IGF-binding proteins (IGF-BPs) which prolong their half-life and regulate their tissue distribution (1,2). Pappalysins (PAPP-A, PAPP-A2) increase IGF-1 bioavailability through cleavage of IGFBPs and are inhibited by stanniocalcins (STC1, STC2) (3,4)...

In Brief: The authors created mouse embryos in the laboratory from a combination of multiple stem cell lines. These embryos were developed ex vivo up to the equivalent of day 8.5 post-fertilization. Embryos developed within an extraembryonic yolk sac and were similar to whole natural embryos, with defined forebrain and midbrain regions, a beating heart-like structure, a neural tube and somites, a tail bud containing neuromesodermal progenitors, a gut tube, and also pr...

To read the full abstract: Environmental health perspectives vol. 127,10 (2019): 107011. doi: https://ehp.niehs.nih.gov/doi/full/10.1289/EHP5570?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmedThis study identifies the effects of exposure to environmentally rel...

J Clin Invest. 2020 Dec 1;130(12):6338–6353. doi: 10.1172/JCI141455. PMID: 33164986.This manuscript describes a novel disorder due to homozygous mutations in the YIPF5 gene which cause a complex syndrome of neonatal/early onset diabetes mellitus, epilepsy and microcephaly. The underlying mechanism of the diabetes involves the accumulation of proinsulin (unable to be transported to the Golgi...