ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: EMBO Mol Med 2018;e9569:1–18TUBB1 encodes a member of the beta-tubulin protein family. Beta-tubulins and alpha-tubulins form dimers, which assemble into microtubules belonging to the intracellular cytoskeleton structure.The authors identified three different mutations in TUBB1 by whole exome sequencing in a large co...

To read the full abstract: Cell. 2018; 175(3): 695–708This paper demonstrates for the first time the existence of extracellular vesicle (EV)-mediated signaling between cell types within the adipose tissue. The results of various experiments show a network of EV-mediated exchange of cellular material in adipose tissue. This newly discovered EV trafficking in adipose tissue...

To read the full abstract: JAMA Pediatr 2018;172:1192–1195.The large prospective Cardiovascular Risk in Young Finns Study included 3596 participants aged 3 to 18 years at baseline, and followed the large majority up to 20–30 years later. Comparing various measures of adiposity at baseline, Body Mass Index (BMI) outperformed the Triponderal Mass Index (TMI) and skinfold thicknes...

To read the full abstract: Endocrinology. 2018 Jul 1;159(7):2676–2682.The authors compared the effects of leptin versus weight loading using intraperitoneal weighted capsules (‘gravitostat stimulation’) on changes in fat mass in mice. Leptin infusion suppressed body weight and fat mass in lean but not in overweight or obese mice. Weight loading decreased body weight in ove...

To read the full abstract: Science. 2017 Aug 18;357(6352):717-720See comment on 6.13...

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: Proc Natl Acad Sci U S A. 2017; 114(31): E6466-E6474Cortisol production is tightly regulated in a dynamic way within the hypothalamic-pituitary adrenal system, which seems further embedded in a wider steroidogenic regulatory network (SRN). Normally, the connection from ACTH to cortisol production is in line with the HPA axis, but there are stressful events, in which t...

To read the full abstract: Dig Dis Sci. 2017;62:3110-3116This retrospective single-centre study is the first to report the impact of anti-tumor necrosis factor (anti-TNF) therapy on weight gain in children with inflammatory bowel disease (IBD). The results are consistent with data in adults, in whom weight gain during anti-TNF treatment was negatively correlated to pre-treatment BMI (1). A si...

To read the full abstract: J Clin Endocrinol Metab 2017;102:4184-4190The Northern Finland Birth Cohort 1986 has yielded remarkable data over the last decade. Firstly, they reported that first-trimester antibody positivity is a risk factor for perinatal death, which was not affected by thyroid hormone status. They reported that maternal thyroid dysfunction and TPO-Ab positivity during pregnancy mo...

To read the full abstract: Horm Res Paediatr. 2018; Jul 26:1-1As the global burden of non-communicable diseases (NCD) is rising to epidemic levels worldwide, efforts are underway to build capacity for childhood NCDs in low- and middle-income countries (LMICs), including among health care providers in pediatric endocrinology. With increased ability to recognize and diagnose pediatric endocrine conditi...