ESPE Yearbook of Paediatric Endocrinology

In Brief: Hypophosphatasia is a clinically heterogenous disorder. By analysing observational data on 215 children (54.4% girls) with hypophosphatasia from the Global Hypophosphatasia Registry, the authors found growth impairment in patients aged <2 years. However, short stature was not a characteristic feature of children with hypophosphatasia, and height was not correlated with disease severity.Commentary: Hypophosphatasia is an inborn error of meta...

Nat Commun. 2022 Apr 28;13(1):2337. https://pubmed.ncbi.nlm.nih.gov/35484151/Brief Summary: This Mendelian randomization study analysed genetic data from 454,023 individuals from the UK Biobank and 15,573 type 1 diabetes (T1D) cases from other cohorts and provides strong evidence that larger childhood body size increases T1D risk, independently from body size at birth and during adulthood.<...