ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Endocr Soc. 2019 Feb 7;3(4):699–713.This paper describes a retrospective study of patients with congenital hyperinsulinism (CHI) who were treated with mammalian target of rapamycin (mTOR) inhibitor, sirolimus, in a tertiary service, and reviews the 15 publications reporting CHI patients treated with sirolimus.The diffuse forms of C...

To read the full abstract: J Clin Endocrinol Metab. 2018;103:3720–28.This nationwide prospective surveillance study aimed to estimate the performance of the current UK recommended TSH threshold (10 mU/L on day 5 after birth) for newborn blood spot screening compared to lower thresholds: 8 mU/L and 6 mU/L. Over a 12-month period, the authors included all patients with positive TSH ba...

To read the full abstract: Development 2018;145. pii:dev146829Branching morphogenesis is a key process during organogenesis of ductal and exocrine organs, e.g. lung, kidney, pancreas, and liver1. Regulatory components and local interactions for lung branching morphogenesis have been described in detail, mostly relying on receptor-ligand interactions between embryonic ...

To read the full abstract: Nat Rev Endocrinol 2018;14:301-316The authors provide complete information as far as available on the prevalence of hypothyroidism, hyperthyroidism and iodine deficiency all over the world. Nutritional iodine is a key determinant of thyroid disease risk. Further factors influencing thyroid disease prevalence are smoking, ageing, genetic susceptibility, and endo...

To read the full abstract: Journal of Pediatrics 2018;192:105-114Rising degree of obesity has been shown to predict increased metabolic risk in obese children and adolescents (1). Nonetheless, it is unclear if BMI categories can be successfully applied to populations of obese children and adolescents for a risk-adapted stratification of therapeutic approaches, and here especially for the in...

To read the full abstract: Lancet 2017;390:510-520It is well recognized that reproductive traits have major relevance to reproductive ‘fitness’ and are therefore among the most highly targeted by natural selection. Evolutionary theory argues that investment in reproduction requires trade-offs in other traits, which are likely to be disadvantageous for other vital functions, an...

Brief summary: This study further explores the sex differences in autoimmune regulation and the control of normal inflammatory responses, and also helps us understand why there are sex differences in the aetiology of autoimmune diseases such as systemic lupus erythematosus (SLE). It demonstrates the changes that occur in cisgender pubertal development on the T regulatory cell (Treg), B cell and monocyte population, and using samples from transgender adolescents undergoing GnRH...

Brief summary: Genome-wide small hairpin RNA screening revealed a specialized role for the protein phospholipase D6 (PLD6) located at and highly expressed in the outer mitochondrial membrane of cells in steroidogenic organs. Here PLD6 promotes the entrance of LDL/LDLR complex into the mitochondria where LDL-carried cholesterol is released for steroid hormone biosynthesis.Thereby the mitochondrial redox-sensitive CISD2 protein was found to support the trafficking of the LDL/LDL...

Brief Summary:This study used single-cell RNA-seq and murine transgenic models combined with elegant cell lineage tracing to characterise the gene expression profiles and trajectories of pituitary thyrotropes. It identifies a novel population of pituitary thyrotropes that co-express Nr5a1 (Sf1) and Pouf1 (Pit1) and a novel developmental trajectory for a subpopulation of Nr5a1-derived thyrotropes.Classical studies on pituitary cell lineages and cell diffe...

Brief Summary: This retrospective study evaluated fracture risk among 2372 children and adolescents (59% females, aged 1-16) with biopsy-proven celiac disease (CD) compared to 11,860 children without CD matched by age, sex, socioeconomic status, and population sector (general Jewish population, ultra-orthodox Jews and Arabs). The overall fracture incidence rate was higher in the CD group (256 vs 165 per 10,000 patient-years).Median age at the end of the ...