ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Lancet Diabetes Endocrinol. 2018;6:122-129T1DM formerly called juvenile or insulin dependent diabetes has so far been considered to be a disease of children adolescents and young adults according to traditional teaching. LADA or late autoimmune diabetes of the adult is known since several decades, however the older the patient with new onset diabetes the more li...

To read the full abstract: Nat Commun 2019;10:343This paper reports many loci associated with chronotype (i.e. being a ‘morning person’ or ‘evening person’) in a genome-wide association study (GWAS) of 697, 828 participants from the UK Biobank and 23andMe cohorts. The link between chronotype and sleep timing and quality is well known. It was therefore interestin...

In Brief: The authors performed whole genome sequencing on 135 patients with congenital hyperinsulinaemia (CHI) who had negative genetic testing for previously known CHI genes. They identified nine different non-coding de novo variants (carried by 14 probands) located in a regulatory region of HK1 intron 2 that co-segregated with disease in families.Comment: HK1 is a ‘disallowed gene’ in the liver and pancreatic beta cells. Th...

To read the full abstract: J Am Soc Nephrol. 2017 Aug;28(8):2529-2539The association of hyperinsulinaemic hypoglycaemia (HH) and polycystic kidneys has not been reported before. Here, the authors studied 17 patients from 11 different families and found that all patients had a combination HH and polycystic kidneys. The HH was mild and some patients required diazoxide therapy. In contrast the poly...