ESPE Yearbook of Paediatric Endocrinology

jai1984yadav@gmail.com Pediatr Endocrinol Diabetes Metab 2021; 27: 266–271. doi: 10.5114/pedm.2021.109269Brief Summary: The questionnaire-based case control study found that children with classical congenital adrenal hyperplasia (CAH) in northern India reported lower quality of life (QOL), poorer sleep and increased fatigue compared to healthy...

To read the full abstract: Dig Dis Sci. 2017;62:3110-3116This retrospective single-centre study is the first to report the impact of anti-tumor necrosis factor (anti-TNF) therapy on weight gain in children with inflammatory bowel disease (IBD). The results are consistent with data in adults, in whom weight gain during anti-TNF treatment was negatively correlated to pre-treatment BMI (1). A si...

To read the full abstract: Endocrinology. 2019;160:1363–1376.Pregnancy-associated plasma protein A2 (PAPP-A2) is a metalloproteinase which, by cleaving IGFBP-3 and IGFBP-5, releases free IGF-I from the ternary complexes and regulates its bioavailability. PAPPA2 gene mutations (p.D643fs25* and p.Ala1033Val) have recently been described in various members of two unrelated fam...

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...

To read the full abstract: Int Health 2018; 10(2):100-107This article addresses the important issue of acceptance of the congenital screening for congenital hypothyroidism (CH) by the population in general and the families in particular. While it is usually obvious for the health professional that screening for CH is beneficial to the potentially affected neonate, culture, level of education, ...

In Brief: Current dogma is that lymphatic vessels are absent in bone and bone marrow. Using advanced 3D-imaging and mouse genetics, these authors show the presence of lymph vessels in bone. Moreover, they show that genotoxic stress causes lymph vessels expansion and lymphangiogenesis in bone, which in turn promotes bone and hematopoietic regeneration.Commentary: The lymphatic system maintains fluid homeostasis, removes cellular waste products and produce...

Nat Med. 2022 Mar;28(3):513–516. doi: 10.1038/s41591-022-01735-0. Epub 2022 Mar 21.Brief Summary: Currently, preimplantation genetic testing (PGT) is used to avoid specific rare Mendelian disorders before in-vitro fertilization (IVF). However, evidence is limited on the potential use of a polygenic risk score (PRS) that combines thousands of genetic variants as a predictor fo...

In Brief: This is a timely and well-written review on disorders of biomineralization and their fundamental mechanisms and by leading experts in the field. This is mandatory reading for any aspiring endocrinologist.Commentary: Biomineralization is a critical physiological process, and deviations from it can cause various diseases. Recent progress has furthered our understanding of the genetic, molecular, and cellular underpinnings of the disorders of biom...

To read the full abstract: Mol Cell Endocrinol 2018; 15;473:166-177Signal transducers and activators of transcription (STAT) proteins are transcription factors transiently activated by different ligands such as cytokines, growth factors, or peptides, which trigger intracellular tyrosine phosphorylation along the JAK-STAT signaling pathway. Phosphorylated STAT induces...

Brief summary: A significant increase in the incidence T2D occurred in the USA during the COVID-19 pandemic, particularly among children with obesity and males.Comment: This is the first multicenter report on the incidence of T2D during the first year of the COVID-19 pandemic in the USA. The average number of new diagnoses per year in the two pre-pandemic years was 825, compared with 1463 during the first pandemic year. This increase of 77% is significan...