ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Front Endocrinol (Lausanne). 2018 Feb 28;9:54Secular trends in birth parameters1-3, growth4,5, and timing of puberty6-8 are observed in normal populations. Changes in nutrition, better access to health care, and other environmental factors have been implicated as causative factors for those changes. Here, the authors assessed secular ...

To read the full abstract: Hum Mol Genet. 2017; 26(18): 3600-3614X-linked adrenoleukodystrophy (ALD) is caused by genetic mutations in the ABCD1 gene coding for a peroxisomal transmembrane protein responsible for the metabolism of very long chain fatty acids (VLCFA). It manifests with a broad phenotype mainly involving the peripheral and central nervous system and the adrenals. However, the exact pa...

To read the full abstract: J Clin Endocrinol Metab. 2017;102:4578-4587In chronic inflammatory diseases, inflammatory cytokines and exogenous glucocorticoid exposure affect growth through systemic effects on the GH–IGF-1 axis and local effects on the growth plates. Low plasma IGF-1 levels are related to systemic GH insufficiency or to hepatic GH resistance. Changes in IGF binding proteins ha...

To read the full abstract: Journal of Pediatrics 2018;192:105-114Rising degree of obesity has been shown to predict increased metabolic risk in obese children and adolescents (1). Nonetheless, it is unclear if BMI categories can be successfully applied to populations of obese children and adolescents for a risk-adapted stratification of therapeutic approaches, and here especially for the in...

To read the full abstract: Lancet Diabetes Endocrinol 2018; 6(2):95-104As non-communicable diseases (NCDs) are reaching epidemic levels, emerging data elucidate the devastating non-metabolic long-term risks of overweight, obesity and diabetes. Using published relative risk analysis and cancer incidence estimates from the GLOBOCAN project, the authors provide a thorough risk analysis of si...

To read the full abstract: Science 2017;358:1019-1027The gene-editing system CRISPR-Cas9 continues to surge through molecular biology labs and article titles. This article provides a new lab shelf, manipulating RNA, not DNA. This RNA editor could be used to treat conditions that are short term in nature, such as local inflammation. The RNA tool focuses on single-l...

To read the full abstract: Lancet 2017;389:2473-2481We are all familiar with the ‘placebo’ effect, when the psychological anticipation of a ‘benefit’ of treatment is so strong that it adds to or even outweighs the actual physical benefits. Many doctors have even admitted to prescribing placebo tablets, or “sugar pills” to their patients, for exam...

To read the full abstract: Front Endocrinol (Lausanne) 2017;8:170Increasing sedentary behaviours and availability of high energy dense processed foods are the obvious culprits to explain the trends towards more overweight and obese populations around the world. However, we should remember that many other hypotheses are proposed, including higher ambient room temperatures due to ce...

Brief summary: This narrative review summarizes the important progress made in the past 10 years in our understanding of the genetics of primary bilateral macronodular adrenal hyperplasia (PBMAH).Primary bilateral macronodular adrenal hyperplasia (PBMAH) is an adrenal cause of Cushing syndrome, attributed to the disrupted integrity of the adrenal cortex zonation that is important for steroidogenesis (1). Nowadays, the diagnosis of PBMAH ...

Brief summary: Chemotherapy, radiotherapy and corticosteroids used to treat acute lymphoblastic leukemia (ALL) can have endocrine side-effects, such as adrenal insufficiency (AI). This cross-sectional single-centre study aimed to assess AI frequency after completion of ALL therapy, by comparison to healthy controls matched for age and sex, and to identify biomarkers of adrenal function and reserve.Study patients were at least 16 months post-completion of...