ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nat Commun. 2019 Aug 16;10(1):3696. doi: 10.1038/s41467-019-11667-y. PMID: 31420539.The hypothalamic arcuate nucleus (ARC) controls crucial physiological processes, such as growth, reproduction and energy homeostasis. However, it is unknown how ARC neurons gain their unique cellular identities and what are their developmental relationships. Here, the authors i...

To read the full abstract: Diabetes 2017;66:1713-1722This study examined whether genetic variants predisposing to T2DM exert their influence on disease via changes in DNA methylation in a young, non-diabetic, cross-sectional cohort. The examination of young subjects who are disease-free enables exploration of SNP-methylation relationships without assessing methylation differences that result from rev...

Nat Commun. 2021 Jan 11;12(1):256. doi: 10.1038/s41467-020-20511-7. PMID: 33431871.These authors report two Mll4 mutant mouse models that exhibited dwarfism and altered development of GHRH−neurons.Inactivating mutations in KDM6A (aka UTX) or KMT2D (aka MLL4) genes result in Kabuki syndrome (KS), whose hallmarks in...

J Clin Psychiatry 2018;79.DOI: 10.4088/JCP.17m11607Summary: In a population-based prospective cohort study, based on the Taiwan National Health Insurance Research Database, 35,949 adolescents and young adults with attention-deficit/hyperactivity disorder (ADHD) had a higher risk of developing T2DM and had a shorter duration between enrollment and onset of T2DM ...

To read the full abstract: Genetics in Medicine 2018;20:583-590Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of monogenic forms of diabetes characterized by pancreatic beta-cell dysfunction, with autosomal dominant inheritance. Fourteen distinct MODY genetic subtypes have been identified. A definitive diagnosis of MODY is very challenging because of similar or overlapping cl...

To read the full abstract: Clinical Endocrinology 2020;92:434–442.The authors developed and applied questionnaires to capture various aspects of health-related quality of life (HR-QoL) and psychosocial functioning in a large cohort of adult women with Turner syndrome (TS). Women with TS reported a lower HR-QoL, perceived more stress and experienced increased fatigue compared to the general population. They found a relationship between HR-Qo...

To read the full abstract: J Clin Endocrinol Metab 2018;103:1583-1591The Controlled Antenatal Thyroid Screening (CATS) study started in 2002 and was the first randomized controlled trial to evaluate the effect of screening and treatment of mild hypothyroidism during pregnancy on child cognition1. A large number of women (n=21,846) were recruited at a median ...

Cell Metab 2021;33(2): 270–282.e8. doi: https://doi.org/10.1016/j.cmet.2020.11.008Brestoff et al. show, for the first time, that mitochondria are transferred from adipocytes to macrophages and that this event has an impact on systemic metabolic homeostasis.Within the last years, it has been demonstrated that cells are able to communicate with each other by the exchange of organell...

katrinjs@stanford.edu Cell Metab 2021; 33(9): 1836–1852.e11http://www.ncbi.nlm.nih.gov/pubmed/34348115Brief Summary: This rodent study identified a novel adipokine in mice which triggers a signaling cascade similar to that of insulin. By acting via an unknown tyrosine kinase, isthmin-1 (ISM1) ameliorates metabolic disturbances associated wit...

eLife 2022;11:e71094 doi: 10.7554/eLife.71094Brief summary: Using placental perfusion, placental fragment culture and primary term human cytotrophoblast culture experiments, the authors signify the relationship between maternal vitamin D, placental vitamin D metabolism and fetal vitamin D exposure.In this study, the uptake of radio-labelled vitamin D (13C-25(OH)D...