ESPE Yearbook of Paediatric Endocrinology

ISPAD Jenious Group. Pediatr Diabetes. 2021;22:1115-1119. https://pubmed.ncbi.nlm.nih.gov/34741569/Brief Summary: This cross-sectional survey describes healthcare professionals’ (HCPs) experiences of telemedicine use in diabetes centers across the world, along with the adaptations and challenges associated with its implementation.This is one out of several public...

To read the full abstract: Cancer. 2020;126(1):202–210. nina.kadan-lottick@yale.eduWhile in healthy adults and children low BMD is associated with fracture risk, this relationship still needs to be clarified in childhood cancer survivors (CCS). This cross-sectional study analysed BMD and fracture history in 542 childhood leukaemia/lymphoma survivors, who received guideline-recommended DXA sur...

J Clin Endocrinol Metab. 2019 Feb 1;104(2):390–396.doi: 10.1210/jc.2018-01105. PubMed PMID: 30247609.Polymorphisms in sex hormone genes have been described in gender dysphoric individuals with inconsistent findings. In this case-control study of 380 trans women and 344 control males, functional variants in 12 sex hormone signaling genes were studied. Significant a...

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...

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...

To read the full abstract: Nat Med 2018, May;24(5):551-555[Comments on 1.1, 1.5, 1.6 and 1.7] All four here presented articles have monogenic obesity as their theme. While patients with monogenic obesity are rare, these individuals bear a heavy disease burden. Furthermore, these...

JAMA. 2020;323(4):339–351. doi: 10.1001/jama.2019.21565This study aimed to determine the prevalence of pre-symptomatic T1D in young children participating in a public health screening program for islet autoantibodies and the risk for progression to clinical T1D in children carrying multiple autoantibodies. On screening, 0.03% were found to have clinical T1D. Of the 0.31% who were foun...

Sci Adv. 2022; 8(16): eabn8485. PMID: 35442744https://pubmed.ncbi.nlm.nih.gov/35442744/Brief Summary: This histologic and transcriptomic study of human and primate adrenal tissue samples provides a molecular framework to understand the fetal development of the adrenal gland.The adrenal cortex is the major source of steroid hormones that drive a plethora of critical ph...

To read the full abstract: JAMA. 2020 Jan 28;323(4):339–351. doi: 10.1001/jama.2019.21565. PMID: 31990315It is unclear how many children in the general population have features of anti-islet cell autoimmunity without later developing type 1 diabetes (T1DM). This public health screening program determined the population prevalence of islet cell autoantibodies (ICA) and the risk for pro...

Brief summary: In this longitudinal study, blood glucose trajectories and their relationship with autoantibodies appearance were assessed in 1050 children with high genetic risk of type 1 diabetes (T1D) between 4 months and 3.6 years. Post-prandial blood glucose levels increased around 2 months prior to autoantibody seroconversion, with further increases thereafter, suggesting that islet autoimmunity co-occurs or follows insults on the β-cells.This ...