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...

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...

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...

To read the full abstract: Lancet 2020;395(10236):1544–45.This study tested the association between age and BMI using data from patients (n =265) with COVID-19 infection treated at the intensive care units at 6 US University Hospitals. Results show a significant inverse correlation between age and BMI in this sample. Interestingly, adolescents and young adults were more likely...

To read the full abstract: Science Advances 2018;4:eaao5961Present-day humans have globular brains and globular endocasts with steep frontal, bulging parietal, and enlarged, rounded cerebellar areas with small and retracted faces. In contrast, Neandertals and other archaic Homo individuals have anterior-posteriorly elongated flat endocasts. These differences are well-visualized...

Pediatr Diabetes. 2020;21(8):1447–1456. doi: 10.1111/pedi.13122Family histories suggest strong degrees of inheritance of T1D in some children, especially in populations with an overall high risk of autoimmunity.This paper from the Finnish T1D Prediction and Prevention (DIPP) study looked at subjects carrying high HLA-conferred risk for T1D. A family history of T1D in...