ESPE Yearbook of Paediatric Endocrinology

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...

Brief summary: This analysis of data from the TODAY study examined the impact of parental diabetes on outcomes in young individuals with T2D during over 12 years of follow-up. This novel observation demonstrates that parental diabetes affects not only earlier T2D onset, but also more rapid long-term progression and more complications.Comment: This study showed that T2D diagnosis in either parent was associated with younger age at T2D diagnosis in their c...

Cancer Epidemiol Biomarkers Prev. 2021; 30: 133–141. https://pubmed.ncbi.nlm.nih.gov/33033142/This retrospective study of 152 patients and 604 matched-controls within the FCCSS (French Childhood Cancer Survivor Study) cohort aimed to identify clinical and therapeutic factors associated with long-term risk of subsequent primary neoplasm (SPN) in the central nervous system (CNS), occurri...

Ann Neurol. 2021 Jul;90(1):143-158. doi: 10.1002/ana.26127. PMID: 33999436.Brief Summary: This study identifies biallelic HID1 variants in 7 patients with hypopituitarism and infantile encephalopathy. It provides genetic and functional evidence for a novel gene-disease connection and expands the list of central nervous system diseases caused by impairment of the trans-Golgi network.<p ...

Elife. 2021 Jun 15;10:e67714. doi: 10.7554/eLife.67714. PMID: 34128468https://elifesciences.org/articles/67714Brief Summary: This histological and transcriptomic study evaluates the presence and the potential role of extra-hypothalamic GnRH neurons in humans and identifies cholinergic GnRH-synthesizing cells in the human basal...

To read the full abstract: Nature Medicine. 2019;25(11):1733–8. PMID 31700171.These authors sequenced the gene for melanocortin-2 receptor accessory protein (MRAP2 ) in 9418 blood DNA samples from several population studies. They detected 23 rare heterozygous variants, which were significantly associated with an increased risk of obesity (OR 3.8 in children and 2.9 in adults)....

To read the full abstract: PLoS Genet 2018;14:e1007698.These authors studied human placental and decidual tissues obtained from elective pregnancy terminations (6–12 weeks gestation). Placental extravillous trophoblasts (EVTs), the cells that rapidly invade the mother’s endometrium, undergo an initial stage of genomewide amplification leadi...

To read the full abstract: N Engl J Med 2018;379:428–439In this multi-centre cohort of 156 patients with hypotonic polyuria, direct measurement of hypertonic saline-stimulated plasma copeptin had much greater diagnostic accuracy than a standard water-deprivation test, as judged by the final reference diagnosis, which was determined on the basis of medical history, test result...

To read the full abstract: Mol Metab. 2017 Oct; 6(10): 1321–1329See comment on 11.7...

To read the full abstract: Science 2018;360:1087-1092During the Cardiovascular Risk Survey in western China, a Kazakh family with inherited low levels of LDL-C was identified. The Kazakhs are mainly descendent from the Turkic and medieval Mongol peoples, they live in isolated regions and usually marry within their own ethnic group. They exhibit often unique differences in single nucleotide vari...