ESPE Yearbook of Paediatric Endocrinology

JAMA. 2022;327(4):350-9. doi: 10.1001/jama.2021.23686.PubMed ID: 35076666Brief summary: This study assessed the penetrance of pathogenic and loss-of-function clinical variants in 2 large population-based biobank studies. It found that the penetrance of pathogenic/loss-of-function variants was variable but generally low among such unselected populations.We are increasing...

To read the full abstract: J Clin Invest. 2020 Feb 3;130(2):641–654. doi: 10.1172/JCI127378. PMID: 31845906.Congenital pituitary hypoplasia (CPH) is a multifactorial disorder, in which the pituitary has not developed correctly. The underlying mechanisms are mostly unknown, and studies are limited by the lack of appropriate disease models. This work modelled the effect of a novel OTX2</e...

To read the full abstract: Proc Natl Acad Sci U S A. 2019;116:21401–21408.This prospective diagnostic study used desorption electrospray ionization mass spectrometry (DESI-MS) to classify thyroid nodules by their metabolic signature, and more precisely their lipid profile. DESI-MS is a technique using charged aerosols of microdroplets which are sprayed onto a surface (e.g. tissue) to desorb and ionize molecules which are then analyzed by MS...

To read the full abstract: J Bone Miner Res. 2019;34(12):2171–2182.In brief: The effect of RANKL inhibition on fibrous dysplasia development is explored here using a mouse model of a fibrous dysplasia-like disorder. Anti-mouse RANKL monoclonal antibody treatment prevented the development and growth of lesions. However, after discontinuation of anti-mouse ...

To read the full abstract: Proc Natl Acad Sci U S A. 2019, Dec 3; 116: 24480-5. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900519/pdf/pnas.201909367.pdfIn a large sample of 317 US American transgender children aged 3–12 years, the authors compared gender outcomes of transgender children with cisgender peers. They also assessed whether the time ...

To read the full abstract: Human Reproduction (Oxford, England) vol. 35, 2 (2020): 257–264. doi: https://academic.oup.com/humrep/article/35/2/257/5709207. https://pubmed.ncbi.nlm.nih.gov/31958337/This randomized controlled trial compares treatment with peroral letrozole or intramuscular low-dose testosterone in ...

To read the full abstract: Pediatr Blood Cancer. 2020 Mar;67(3):e28106. ebrignardello@cittadellasalute.to.itPremature aging has been proposed as a paradigm to explain the early cardiovascular disease (CVD) that affects young-adult childhood cancer survivors (CCS). Protein glycation is recognized as one of the main factors contributing to aging. Advanced glycation end products (AGEs) are a...

To read the full abstract: JAMA Pediatr 2019; 173:953–960.Dietary proteins, such as gluten, have been suggested to serve as triggers of the autoimmune process that leads to type 1 diabetes (T1DM). These authors studied the potential associations of cereal, gluten, and dietary fiber intake with the development of islet autoimmunity (IA) and T1DM.The prospective birth cohort Finnish Type 1 Diabetes Prediction and Preven...

To read the full abstract: Nat Biomed Eng. 2020 May;4(5):499–506. doi: 10.1038/s41551-019-0508-y.Glucose-responsive insulin delivery systems that mimic pancreatic endocrine function could enhance health and improve quality of life for people with type 1 and type 2 diabetes with reduced β-cell function. However, insulin delivery systems with rapid in vivo glucose-respon...

To read the full abstract: Lancet Glob Health 2020; 8: e730–36. doi: 10.1016/S2214-109X(20)30104-2• Sustainable Development Goals (SDG) were adopted by United Nations Member States in 2015. Universal health coverage is at the centre of SDG #3 but lacks metrics that make it possible to assess how effective the provided healthcare is.• WHO and UNICEF convened a group of ...