ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Hum Mol Genet 2017;26:1992-2005Mutations in human DISC1 have been previously associated with mental illness, such as schizophrenia and depression. Moreover, DISC1 has been shown to be important in regulating CNS neurogenesis through the Wnt/β-catenin pathway. However the mechanism by which DISC1 causes mental illness is not known. In this elegant work, Eachus <...

To read the full abstract: Endocrinology. 2018 Feb 1;159(2):1035-1049Placental insufficiency leads to intrauterine growth restriction (IUGR) which in the fetus leads to hypoxemia and hypoglycemia. IUGR fetuses are charaterised by having higher circulating catecholamine concentrations and lower circulating insulin concentrations, as well as impaired glucose stimulated insulin secretion. In cases o...

To read the full abstract: BMJ 2018;360:k452The role of thyroid hormones during early gestation is well established by animal studies. In humans, previous studies have shown that maternal hypothyroxinemia was associated with either an early reduction in psychomotor scales (e.g. Bayley scale of infant development) or later in late infancy or adolescence. However, randomized controlled trials on...

To read the full abstract: J Pediatr 2018; 198: 260-264The incidence of T1DM in children <15 years is increasing at an overall annual relative rate of 3.9% (95% CI 3.6-4.2) [11]. The prevalence of GHD is estimated at approximately 1:4000 to 1:10000 [12-14]. Management of the very rare patients who have both T1DM and GHD raises questions of efficacy and safety of ...

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. ...

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: 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: J Endocrinol Invest. 2018;41:325-331Growth failure is common in children with chronic kidney disease (CKD) and has a multifactorial etiology. The hypothalamus-pituitary axis is intact, but there is a resistance to growth hormone (GH) action in target tissues, secondary to decreased density of GH receptors, impaired signal transduction and reduced levels of free insu...

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: Nat Med. 2017 Dec; 23(12): 1444–1453This study highlights the importance of asprosin in the regulation of appetite. This peptide hormone was first described by Romere et al. in 2016 (1), who reported 2 patients with neonatal progeroid syndrome (NPS) due to truncating heterozygous mutations in the fibrillin-gene (FBN1). The FBN1 gene encodes profibrillin wh...