ESPE Yearbook of Paediatric Endocrinology

christine.martinez-vinson@aphp.fr J Pediatr Gastroenterol Nutr. 2021; 73: 231-235. PMID: 33908740.Brief Summary: This retrospective study evaluated longitudinal changes in bone mineral density (BMD) in children and adolescents with Crohn disease (CD), and the risk factors for low BMD. Low BMD (defined as BMD Z score ≤ -2.0) was present in 18.7% of patients at diagnosis and in 16% at ...

Diabetes Care. 2021 Jan;44(1):35–42. doi: 10.2337/dc20-1520. PMID: 33184150.The key findings from this cohort of patients with ABCC8 neonatal diabetes mellitus (NDM) are: A) good glycaemic control is maintained over the long-term without any serious adverse events (including severe hypoglycaemia) despite high doses of sulphonylurea, B) some patients show improvements in neurologica...

J Clin Endocrinol Metab. 2020;105(2):dgaa465. doi: 10.1210/clinem/dgaa465. PMID: 32685970This study aimed to identify potential (epi)genetic causes of short stature in 20 SGA children (13 boys; 7 girls) treated with rhGH. Exome sequencing, single-nucleotide polymorphism (SNP) array (both performed in the whole cohort) and genome-wide methylation analysis (performed in a random subset of 10 ...

To read the full abstract: PLoS Genet. 2019; 15(1):e1007603.This genome wide association study reveals new insights into the genetic basis of thinness by investigating a large cohort of healthy persistently thin individuals. In the past, it has been speculated that inheritance of thinness may constitute a protective factor against environmental factors disposing to obesity (1). Neverthel...