ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nature Genetics 2018; 50: 26–41These authors combined data from 125 cohorts comprising more than 700,000 individuals to discover rare and low-frequency (R/LF) coding single nucleotide variants (SNVs) associated with BMI, thereby identifying novel potential targets for the treatment of obesity. They identified 14 R/LF coding SNVs in 13 genes associated with...

To read the full abstract: Nature 2017;547:419Since the identification of DNA methylation as a master regulator of genomic imprinting more than 20 years ago, it has been the only known mammalian germline imprinting mark. However, recent studies have identified several imprinted genes capable of maintaining paternal allele-specific expression in the absence of oocyte DNA methylation. Here, t...

Brief Summary: This study examined the potential benefits of Verapamil, a calcium channel blocker traditionally used to treat hypertension, in Type 1 Diabetes (T1D). It shows that Verapamil can prevent the decline of Insulin-like Growth Factor I (IGF-I) levels, which are crucial for β-cell survival and insulin production. Moreover, Verapamil reduced the expression of IGF-binding protein 3 (IGFBP3), enhancing IGF-I signaling and protecting β-cells from apoptosis. Henc...

Cell Stem Cell. 2022 Feb 3;29(2):328-343.e5. doi: 10.1016/j.stem.2021.11.009. PMID: 34879244.Brief Summary: By applying single-cell RNA sequencing (scRNA-seq) to 112,376 cells of human hypothalamus ranging from 7–20 gestational weeks (GW7–20), the authors produced a spatiotemporal transcriptome atlas of human hypothalamus development and revealed critical regulatory genes control...

In Brief: The authors harness large-scale genetic and DNA methylation datasets in an epigenome-wide Mendelian randomization approach, to identify CpG sites that appear to be causally related to aging-related traits. These sites are collated to produce 2 epigenetic clocks: DamAge has adverse impacts on age-related outcomes, including mortality. AdaptAge appears to confer beneficial adaptations.Steve Horvath and others originally described various epigenet...

Brief Summary: This retrospective, multicenter study examined patients who were diagnosed with congenital hypothyroidism (CH) through the newborn screening (NSP) program in Turkey. It assessed the prevalence of temporary congenital hypothyroidism (TCH), examined the causes of permanent congenital hypothyroidism (PCH), and identified laboratory and clinical indicators to distinguish TCH and PCH.Congenital hypothyroidism (CH), the most prevalent endocrine ...

Cell Stem Cell. 2021 Sep 2;28(9):1657-1670.e10. doi: 10.1016/j.stem.2021.04.006. PMID: 33961804.Brief Summary: The authors established a novel protocol to generate hypothalamic arcuate organoids from human induced pluripotent stem cells, which could be utilized to investigate the arcuate nuclei development and the underlying mechanism of arcuate nucleus-related diseases. <p class="abst...

J Clin Endocrinol Metab. 2021 Mar 25:dgab190. doi: 10.1210/clinem/dgab190. PMID: 33765130. https://academic.oup.com/jcem/article-abstract/106/7/e2557/6188450?redirectedFrom=fulltextIn brief: This multicentre cohort study explores the frequency, long-term outcomes and potential p...

Nat Commun. 2022 Feb 9;13(1):775. doi: 10.1038/s41467-022-28120-2. PMID: 35140214Brief Summary: This in vitro study identified interactions between distinct cell populations of the thyroid gland and immune cells in the context of Hashimoto thyroiditis. The authors provide important new insights into the pathological mechanism of Hashimoto thyroiditis by characterizing the stromal ...

To read the full abstract: Nat Metab 2019;1:1202–1208.Metformin has become a mainstay in the treatment of T2DM in over six decades of clinical use and is today one of the world’s most commonly prescribed drugs. Anti-diabetic properties of metformin rely on an inhibition of hepatic glucose output through AMPK-dependent, but also AMPK-independent effects (reviewed in (1)). Neverthel...