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...

Brief Summary: This longitudinal study explored the impact of metabolic surgery on the growth hormone (GH)/IGF-1 axis and its subsequent effects on adipose tissue function. The results suggest that bariatric surgery enhances GH-IGF-1 levels, which are linked to improved adipose tissue function and a reduction in inflammation markers.This study explored how metabolic surgery influences the GH system, and how these changes are related to improvements in ad...

Brief Summary: This study identifies a novel cause for congenital adrenal hypoplasia and provides evidence that Wnt/β-catenin signaling plays an important role in the development of human adrenal cortex.Comment: Primary adrenal insufficiency (PAI) is a life-threatening condition characterized by the inability of the adrenal cortex to produce sufficient glucocorticoids and/or mineralocorticoids. The major cause of childhood-onset PAI is congenital ad...

Brief Summary: This retrospective, single-center study from Kobe Children’s Hospital, Japan, analyzed height SDS (main outcome) and risk of short stature (height <-2 SDS, secondary outcome) in 89 children with malignant diseases who underwent initial allogenic hematopoietic stem cell transplantation (HSCT) with different conditioning intensities. More intensive conditioning conferred a substantially higher risk of short stature at 3 years after HSCT.<p class="abst...

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...