ESPE Yearbook of Paediatric Endocrinology

Thyroid. 2021:387–419. doi: 10.1089/thy.2020.0333.These updated ENDO-European Reference Network (ENDO-ERN), European Society for Paediatric Endocrinology (ESPE) and European Society for Endocrinology (ESE) guidelines for congenital hypothyroidism will serve as comprehensive review of the literature providing recommendations to all aspects of the disease.The first ...

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...

To read the full abstract: Science 2018;359:424-428This ground-breaking study shows that your genetic make-up may influence your appearance, behaviour and health risks, not only by acting directly on your biology, but also indirectly, through the effects on your parents and how they cared and “nurtured” you. Such parental effects are obvious for very early life traits, su...

Brief summary: Over the last decades changing incidences for autoimmune diseases have been observed. However, no data are available so far on long-term trends, incidence over the whole age spectrum (child, adults, geriatric patients), and incidence of co-occurrence of the different autoimmune diseases. The presented study provides an extensive population-based cohort study performed in the UK.The authors used electronic health care records of 22 million ...

Science. 2021;372(6543):eabg2538. doi: 10.1126/science.abg2538.Radioactive iodine (131I)-exposed children in the region of Chernobyl (Ukraine) showed an increased incidence of papillary thyroid carcinoma (PTC) after the 1986 nuclear plant accident [1]. This so far the largest and most comprehensive study to characterize the genomic landscape of radiation induced PTC in a large n...

Brief summary: Emont et al. created a cell atlas of human and mouse white adipose tissue, which goes a long way in informing our understanding of the complexity of adipose tissue.Although adipocytes make up the largest proportion of adipose tissue volume, the cellular structure of adipose tissue is far more complex and includes adipose tissue progenitor cells (APCs), fibroblasts, vascular cells and immune cells. We are also beginning to understa...

Nat Rev Endocrinol. 2021 Feb;17(2):114–129. doi: 10.1038/s41574-020-00437-2. PMID: 33247226.We highly recommend this comprehensive review by Prodam et al. to everyone as a starter to this chapter. How many of you knew that hypopituitarism in humans was first described just over 100 hundred years ago? The authors of this excellent review divide the causes of hypopituitarism...

J Clin Invest 2022;132(4):e153752 doi: 10.1172/JCI153752Brief summary: Using rodent and primate models, this study shows a classical endocrine feedback loop, where bone-derived osteocalcin enhances adrenal steroidogenesis, and the inactivation of osteocalcin signalling impairs adrenal growth and steroidogenesis.This study provides important evidence on the existence of the bo...

To read the full abstract: Thyroid. 2020;30:277–289.GLIS3 gene mutations are associated with a syndrome that combines neonatal diabetes and congenital hypothyroidism due to thyroid dysgenesis [1]. Glis3 knockout mouse models showed functional deficits of thyroid hormone synthesis but were not able to shed light on the role of Glis3 during thyroid organogenesis resulting in thyroid dysgenesis. Rurale et al.</em...

To read the full abstract: Arch Med Sci. 2020;16(1):34–41. doi: 10.5114/aoms.2019.88406Short summary: Alarming numbers are reported here on the high prevalence of T2DM in children and adolescents in Hungary. In this nationwide population-based study, the prevalence of T2DM in children aged 0–18 years rose between 2001 and 2006 from 20/100 000 to 36/100 000 and decreased ...