ESPE Yearbook of Paediatric Endocrinology

Nat Commun. 2021 Nov 19;12(1):6749. doi: 10.1038/s41467-021-27001-4. PMID: 34799566.Brief Summary: The authors used RNA-seq, ATAC-seq, and promoter-focused Capture C to characterize the genetic architecture during hypothalamic differentiation. This information provides insights into mechanisms by which noncoding GWAS loci are associated with hypothalamic-regulated traits potentially mediat...

Brief summary: Villanueva-Carmona et al. identified succinate as a mediating metabolite in leptin secretion. Its action is mediated by the succinate receptor SUCNR in adipocytes via the circadian clock in an AMPK/JNK-C/EBPa-dependent manner.Although the regulatory circuits of leptin action on hunger and satiety are well understood, the pathways that mediate acute leptin production in the adipose tissue are less investigated. To investigate how a...

To read the full abstract: J Clin Endocrinol Metab. 2018 Sep 1;103(9):3420–3429.This whole-exome study in 67 probands and 93 relatives from a large cohort of familial delayed puberty identifies a new heterozygous HS6ST1 mutation as a novel cause of delayed puberty.The underlying pathophysiology of early and delayed puberty remains unexplained in most ...

Brief Summary: This study compared the histology and growth phenotypes, epigenotypes and gene expression profiles of mouse embryos, embryonic livers, and placental tissue at differing gestational ages after exposure to IVF. They followed the growth and metabolic profiles (glucose, insulin, triglycerides, total cholesterol, HDL, LDL/VLDL) of offspring to age 12 weeks. Groups analysed by sex included those conceived naturally, by IVF, by IVF with TEBx (trophectoderm biopsy) and ...

Diabetologia. 2020;63(12):2605–2615. doi: 10.1007/s00125-020-05276-4.Diabetes diagnosed at <6 months of age is often of monogenic origin. However, 10-15% of affected infants do not have a pathogenic variant in one of the 26 known neonatal diabetes genes. In this study, 166 infants diagnosed at <6 months of age without such pathogenic variants showed all the the classic feat...

To read the full abstract: Sci Transl Med 2017;9(419)Can growth velocity be monitored by a lab test? Previous approaches to this methodological challenge focused on the correlation of linear growth to more established parameters such as C-type natriuretic peptide (CNP). Potentially more specific markers of endochondral ossification - with the exception of amino-terminal propeptide of CNP (...

Journal of Clinical Endocrinology and Metabolism. 2018; 103(6): 2403–7.URL: http://www.ncbi.nlm.nih.gov/pubmed/29659879Summary: Orlistat therapy reduced serum triglycerides by 50–60% in two children with Type 1 hyperlipoproteinemia (T1HLP) in a randomized, open-label, crossover trial with four periods and two sequences. The treatment was safe and is suggested as fir...

To read the full abstract: J Pediatr. 2019;206:56–65.e8.IGF-I plays a key role in fetal growth and development [1]. IGF-I exerts pleiotropic effects including cell proliferation, survival and differentiation, but also influencing metabolism and angiogenesis.Very preterm newborns show a rapid decline serum IGF-I concentrations that remain low for the first week...

N Engl J Med. 2022 Jan 20;386(3):209-219. https://pubmed.ncbi.nlm.nih.gov/35045227/Brief Summary: This multicenter, randomized, crossover trial in 74 very young children (age: 1-7 years) with type 1 diabetes (T1D) tested the safety and efficacy of a hybrid closed-loop system for insulin delivery (CamAPS FX) compared with sensor-augmented pump therapy over 16 weeks. The hybrid closed-loop sy...

To read the full abstract: Genet Med. 2020;22:44–52.This single center, randomized, double-blind, placebo-controlled phase 3 study investigated the effects of levothyroxine, folic acid, or both in combination over 12 months on global development in 143 infants with Down syndrome (DS). Over the last decades, treatment of DS associated co-morbidities has improved their life-expectancy. However, a therapy to improve mental development is still...