ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Hum Mol Genet. 2019, Jul 15; 28: 2319–29. doi: https://academic.oup.com/hmg/article/28/14/2319/5424416This study provides evidence that MYRF is important in the development of coelomic endothelial derived cells, and early gonadal development in both males and females. It combines detailed phenotypic assessment of patients and whole geno...

To read the full abstract: Cell Metab. 2020 Jun 2;31(6):1120-1135.e7. doi: 10.1016/j.cmet.2020.04.013.This experimental rodent study of a PEGylated amphetamine (PEGyAMPH) designed to not cross the blood brain barrier is interesting for 2 reasons. First, it shows that its peripheral anti-obesity effects alone (without the central anorexic effects of amphetamine) are sufficient to achieve...

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...

To read the full abstract: N Engl J Med. 2018; 379(8): 711–721.In attempting to reduce the rate of death and disability associated with cardiac arrest worldwide, emergency medical workers have few effective treatments other than early initiation of cardiopulmonary resuscitation (CPR) and prompt defibrillation. Epinephrine (adrenaline) has potentially beneficial effects in cardiac ar...

Pediatr Diabetes. 2019 May 29. doi: 10.1111/pedi.12872. [Epub ahead of print]There might be many benefits arising from the artificial pancreas and other new technologies to deliver insulin and measure glucose levels. Whether or not such technological advances will improve the lives of children and families needs to be answered.This study surveyed the experiences of parent...

To read the full abstract: Cell Metab 2019; 29(4): 844–55This randomized, placebo-controlled, double blind trial showed that IL-6 is necessary for exercise-mediated loss of visceral adipose tissue mass. 53 participants (men and women) received either tocilizumab, an IL-6 signaling blocker (intervention group) or placebo (control group), every four weeks, in a ...

To read the full abstract: J Clin Endocrinol Metab 2018; 103:917-925SGA is often defined as a birth weight and/or length < −2 SDS for gestational age and gender [43]. A frequent cause of SGA is fetal growth restriction (FGR), often associated with perinatal mortality and morbidity and also implicated in a higher risk of cardio-metabolic disease in adulthood. ...

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...

Brief summary: This collaborative study identified 13 monoallelic rare loss-of-function (LoF) variants in the serotonin 2C receptor (HTR2C) gene in 19 unrelated individuals with hyperphagia, severe early-onset obesity, and some degree of maladaptive behaviour. The authors used exome sequencing in 2548 individuals with severe obesity and 1117 control individuals without obesity. They found that HTR2C variants cause monogenic obesity by demonstrating t...

Brief Summary: This study examined the incidence and risk factors for adrenal crisis (AC) in patients with pediatric-onset adrenal insufficiency (AI). AC occurs in a substantial number of children with AI, particularly in younger children due to their high number of infections.Comment: Adrenal crisis (AC) is a life-threatening complication in patients with adrenal insufficiency (AI) (1-4). The clinical features of AC are often nonspecific, and it may be ...