ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Lancet Diabetes and Endocrinology 2018; 6: 114–121Cystic fibrosis (CF)-related diabetes (CFRD) impacts significantly on mortality and quality of life. Impaired glucose metabolism and CFRD are associated with poor weight and height gain and impaired lung function in children and adolescents (1). In that study, height and weight were lower in CF patients wit...

Pediatr Diabetes. 2018 May 15. doi: 10.1111/pedi.12691There is a small but significant debate as to whether or not type 1 (T1D) and type 2 diabetes (T2D) are the same disease with albeit different course. It might therefore be prudent to include into a chapter on T1D a publication on T2D. This study aimed to describe recent medication patterns and changes in medication patterns and glycemic con...

Lancet Diabetes Endocrinol 2019; 7: 231–40. DOI: 10.1016/S2213-587(19)30026-9• This study uses quantitative data from reputable global data sets to demonstrate that the epidemiology of obesity can be framed as a conceptual model of obesity transition.• A new framework to classify the obesity epidemic is proposed that may assist policy makers and r...

To read the full abstract: J Clin Endocrinol Metab. 2018 Mar 1;103(3):1042-1047See Comment under 2.4....

To read the full abstract: Hum Mol Genet. 2017 Nov 15;26(22):4315-4326These two papers describe the association of heterozygous FOXA2 mutations with hypopituitarism and hyperinsulinism. The forkhead/winged helix transcription factor Foxa2 is a major upstream regulator of Pdx1, a transcription factor necessary for pancreatic development and also plays a role in the developmental biology of the pituit...

To read the full abstract: J Clin Invest 2017;127:4326-4337Mutations in the Krüppel-like zinc finger transcription factor GLI-similar 3 (GLIS3) have first been associated with a syndrome combining two rare genetic endocrine diseases, namely neonatal diabetes and congenital hypothyroidism (OMIM #610199)1. Since then, 12 patients have been reported so far with a broad spect...

To read the full abstract: J Clin Endocrinol Metab 2017; 102(11):4080-4088GH influences the structure and function of the heart. Untreated GHD adults have a worse cardiometabolic disease risk profile characterized by altered body composition, unfavorable changes in metabolism, reduced left ventricular mass and cardiac output and decreased exercise capacity [25-26]. GH...

To read the full abstract: J Endocr Soc 2017;1:1006-1011Besides its structural role in the extracellular matrix, aggrecan orchestrates a plethora of key mechanisms in endochondral ossification, such as embryonic morphogen distribution, regular indian hedgehog (IHH) / Sox9 expression and columnar chondrocyte orientation. Thus, homozygous loss-of-function mutations in the ACAN gene, encoding...

To read the full abstract: J Orthop Res 2018;36:138-148Dogs are growth biologists’ best friends – due to the broad intra-species variance in body size, canine breeds offer a unique opportunity to study genetic differences mainly affecting linear growth. In their previous publication, the authors found drastic differences between miniature and large dog breeds in known key regulators of th...

To read the full abstract: Eur J Endocrinol. 2018 Apr;178(4):377-388[Comments on 7.7 and 7.8] Familial self-limited delayed puberty is highly heritable and has a clear genetic basis as described in the review written by Sasha Howard. Recent studies suggest that the genetic basis of self-limited delayed puberty is likely to be highly heteroge...