ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Hum Mol Genet. 2017 Nov 15;26(22):4315-4326These two papers describe the association of heterozygous FOXA2 mutations with hypopituitarism and hyperinsulinism. The forkhead/winged helix transcription factor Foxa2 is a major upstream regulator of Pdx1, a transcription factor necessary for pancreatic development and also plays a role in the developmental biology of the pituit...

To read the full abstract: Am J Med Genet A. 2016 Nov;170(11):2927-2933The vast majority of proteins that a cell secretes or displays on its surface first enter the endoplasmic reticulum (ER), where they fold and assemble. Only properly assembled proteins advance from the ER to the cell surface. The ER coordinates protein biosynthetic and secretory activities in the cell. Alterations in ER homeost...

To read the full abstract: Diabetes Care. 2017;40:849-855Coping strategies for people with chronic diseases include working on risk factors as well as using and employing resilience factors in daily coping strategies. Both strengthes and difficulties may be experienced by people with T1DM. In this study, strengths were strongly related to key resilient outcomes, even in the presence of well-documente...

Brief Summary: This study investigated the effects of anorexia nervosa (AN) on the insulin-like growth factor (IGF) axis in female adolescents. It evaluated levels of various proteins and their role in the IGF axis, including pregnancy-associated plasma protein A2 (PAPP-A2) and stanniocalcins (STC-1 and STC-2). The reduced levels of PAPP-A2 may impair IGFBP cleavage, thereby reducing IGF-I bioavailability. IGF1 plays a crucial role in regulating growth, metabolism, and bone he...

Brief Summary: This study assessed the effect of growth hormone (GH) on WIP1 (wild-type p53-inducible phosphatase 1), a key mediator of the DNA damage response (DDR). GH suppressed DDR by inducing WIP1, which dephosphorylates and inactivates ATM (ataxia-telangiectasia mutated) kinase and its downstream effectors (such as CHK2, p53 and H2AX), leading to the accumulation of unrepaired DNA, which can potentially contribute to tumorigenesis.This elegant stud...

Brief Summary: This review summarizes the role of macronutrients and hormones which regulate energy balance and sexual maturation by conveying energy availability information to the GnRH system.30 years ago, Kennedy and Mitra were the first to use translational studies to show that nutrition is a key factor regulating puberty timing1. Their seminal protocol modified the size of rat litters to affect weight increase and showed that nutritional ...

Brief Summary: The European Association for the Study of Obesity (EASO) initiated this online Delphi study. They invited an expert panel of n=194 stakeholders, including policymakers, healthcare professionals, people living with obesity, and researchers from 30 countries to evaluate proposed statements on obesity to create a standardised language. Based on the understanding of obesity as an adiposity-based chronic disease, consensus was achieved on 54 statements categorized in...

Nat Neurosci. 2021 Dec;24(12):1660-1672. doi: 10.1038/s41593-021-00960-z. Epub 2021 Nov 18. PMID: 34795451. https://www.nature.com/articles/s41593-021-00960-zBrief Summary: This neuroanatomical and physiological study in mice demonstrates that GnRH neurons attract glial cells in their vicinity via cell–cell communication...

Brief summary: A newly developed mouse model of congenital ablation of Dicer in kisspeptin neurons was used to identify a role for miRNAs in kisspeptin neuron activity and control of reproduction.The last few years have seen a shift in paradigm with the discovery of epigenetic mechanisms regulating GnRH neuron activity and thus puberty and reproduction. In particular, miRNAs appear to play a crucial role in the maturation and function of the hypothalamic...

Brief summary: This study identified nitric oxide synthase 1 (NOS1) heterozygous missense variants in 6 patients with hypogonadotropic hypogonadism. Altered minipuberty and puberty as well as cognitive impairment were observed in NOS1 deficient mice.Nitric oxide (NO) is produced under the control of NO synthase in hypothalamic neurons. NO plays a crucial role in regulating gonadotropin-releasing hormone (GnRH) secretion, acting as a strong inhibitory sig...