ESPE Yearbook of Paediatric Endocrinology

Cult Health Sex. 2021 Apr;23(4):564–578. doi: 10.1080/13691058.2020.1785012.. https://www.ncbi.nlm.nih.gov/pubmed/32876546This paper, by a human rights researcher, explores how European law systems, by their conceptualisation of sex as a binary construct, may favour medical interventions in children with variations in se...

To read the full abstract: J Endocrinol. 2019; 242(1):T69–T79.Maternal exposure to glucocorticoid therapy, or stress and anxiety during pregnancy, have been linked to alterations in the exposed offspring in their functioning of the hypothalamic-pituitary-adrenal (HPA) axis and stress-related behaviours. Moreover, it appears that these effects are maintained across multiple generatio...

Brief Summary: This review describes the widespread global issue of childhood rickets, focusing on how disparities in health, nutrition, and environmental factors contribute to its prevalence.Nutritional rickets is primarily caused by deficiencies in vitamin D or calcium, often due to inadequate nutrition or lack of sunlight exposure. This leads to impaired bone development in children, with potential lifelong consequences. Rickets has historically been ...

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...

Brief Summary: This review provides a comprehensive summary of the current research, pathophysiologic mechanisms and methodological factors regarding the utility of ncRNA as biomarkers for endocrine tumors.Comment: Clinical management of endocrine tumors has several challenges, including preoperative diagnosis regarding malignancy, monitoring of treatment and patient follow-up. The currently available biomarkers for endocrine tumors have important limita...

In Brief: This research letter describes a recent case series of 10 patients aged 21–39 years who started taking Semaglutide within 3 months of their diagnosis of antibody-positive type 1 diabetes (T1D), in addition to standard basal and prandial insulin. All 10 patients stopped prandial insulin within 3 months of Semaglutide, and 7 patients also stopped basal insulin by 6 months. Mean HbA1c fell from 11.7% at diagnosis to 5.9% at 6 months and 5.7% at 12 months. Mean fast...

fragaudio@alice.it British Journal of Haematology, 2022, 196, 110–115. PMID: 34462914.Brief Summary: This prospective single-centre study evaluated fertility in men diagnosed with Hodgkin lymphoma (HL) by sperm analysis, in order to identify clinical and biological characteristics correlated with fertility status. Only 28% of men showed normal sperm analysis.Previous studies in ...

Thyroid. 2020;30:1831–1833. doi: 10.1089/thy.2020.0293.Every year, we report on new genes that have been associated with congenital hypothyroidism. But it is the first time in all these years that, following the first description, other groups from different continents confirm the first reports in independent cohorts in such a short time after publication.This is ...

TOPMed Anthropometry Working Group; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium et al. Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.Nat Genet. 2022 Mar;54(3):263-273.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/35256806/In brief: Genome-wide association studies (GWAS) on unrelated individuals rely...

To read the full abstract: Sci Rep. 2019, Nov 12; 9: 16552. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851130/pdf/41598_2019_Article_53006.pdfA complex network of genes contributes to (human) sex development. Among these, CBX2 is involved in the initial programming of the bipotential gonad to either the ovary or testis pathway. Ch...