ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Eur J Pediatr 2017; 176:873-879Achondroplasia (ACH) is the most common genetic form of disproportionate short stature, occurring in 1:15,000 –1:40,000 live births [28]. Most patients have a gain of function mutation in the transmembrane domain of the fibroblast growth factor receptor 3 (FGFR3), leading to prolonged intracellular MAPK signalin...

To read the full abstract: J Clin Invest 2018;128:1913-1918Two rare genetic forms of vitamin D–dependent rickets exist: VDDR-1 caused by mutations in the genes encoding either the renal 1-α hydroxylase (CYP27B1: VDDR-1A) or the hepatic 25-hydroxylase (CYP2R1: VDDR-1B) and VDDR-2 caused by mutations in the vitamin D receptor signalling due to mutations in the gene encoding the ...

To read the full abstract: J Clin Endocrinol Metab. 2018 Feb 1;103(2):649-659A minimum level of energy availability is required for the onset of puberty, whereas increased fat mass has been shown to be associated with precocious onset of puberty1,2. Recent genome-wide association studies have identified several loci for age at menarche also associated with obesity3-5. Whethe...

To read the full abstract: J Clin Endocrinol Metab. 2018;103(4):1330-1341Glucocorticoids exert an inverted U-shaped influence on human cognition, particularly on acquiring and consolidating memory (25), whereas androgens have an overall beneficial effect on cognitive control, verbal memory, and spatial cognition in humans (26). Although previous studies in patients with CAH have con...

To read the full abstract: Inflamm Bowel Dis. 2017;23:1410-1417This cross-sectional study analyzed bone health status by high-resolution peripheral quantitative computed tomography (HRpQTC) of a Swiss Cohort of young patients with inflammatory bowel disease (IBD) in comparison to healthy controls, matched for sex, age, height and fracture history. The results showed subtle abnormalities in...

To read the full abstract: JAMA Pediatr. 2017;171:1176-1183Adolescence is certainly the most difficult age for reaching T1DM treatment and HbA1c goals. In this age group, most patients have deteriorated metabolic control, and higher risk for acute complications, such as severe hypoglycemia and DKA. Getting into therapeutic contact is very hard in this period of life for diabetes teams ...

To read the full abstract: Lancet 2017; 390: 374-88See comment on 13.4...

To read the full abstract: Lancet 2017; 390(10092): 389-398[Comment on 13.3 & 13.4] Access to quality medical care is often difficult in resource-limited settings and depends upon the collaboration of key stakeholder groups, including global/regional health policymakers, national governments and health system managers, the pharmaceutical industry and trained clinicians and health work...

To read the full abstract: J Public Health (Oxf) 2017:1-9Our efforts to control overweight and obesity in children are severely hampered because most of their parents (and indeed most of their health professionals!) cannot visually recognise an obese child, let alone one who is overweight. This is particularly difficult at around the ages 4-6 years old because this coincides with the BMI n...

To read the full abstract: N Engl J Med 2017;377:13-27Other estimates of the global trends and projections in obesity have been published. In this regard, the current analysis provides similar, albeit equally worrying, data on the trends towards more obesity across all regions of the world. Moreover, a particular advance of this current study, which was funded by the Bill and Melind...