ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Endocrinology 2019;160:557–567.There is now no doubt that arcuate nucleus (ARC) kisspeptin neurons are the GnRH pulse generator. The authors analyzed the activity of ARC kisspeptin neurons by using a very powerful method based on the recording of calcium concentration within cells.ARC kisspeptin neurons activity was analyzed in male ...

Cell 2018;175:605–614.DOI: 10.1016/j.cell.2018.07.044.http://www.ncbi.nlm.nih.gov/pubmed/30340032Summary: Epidemiological, clinical intervention trials and experimental evidence indicate the negative impact of excessive carbohydrate uptake. This review details the history of carbohydrate consumption and mechanisms of ca...

To read the full abstract: Nat Rev Endocrinol 2017;13:588-598Central hypothyroidism has received much interest in recent years, partly due to the discovery of new causal gene mutations. This is a comprehensive review on several aspects of central hypothyroidism. It discusses prevalence, and its variation between different countries; pitfalls in diagnosis, including assay interference; concurrent...

To read the full abstract: Eur J Endocrinol 2017;177:D1-D12Newborn screening (NBS) is an invaluable tool for identification of CH; however almost 70% of newborns worldwide do not benefit from NBS at all. In countries with NBS, lowering of TSH cut-offs over the years led to major controversy on the optimal TSH screening cut-off. In this very interesting debate paper, arguments are presented f...

Brief Summary: This 6-week randomized, crossover, double blind, placebo-controlled feasibility trial assessed the effect of subcutaneous pump hydrocortisone on the quality of life, mood, functional neuroimaging, behavioral/cognitive responses, sleep and metabolism in adults with primary adrenal insufficiency (PAI) compared to standard therapy.Comment: Adrenal glucocorticoid secretion is characterized by a complex diurnal variation, formed by changes in p...

To read the full abstract: Nature Medicine. 2019;25(11):1733–8. PMID 31700171.These authors sequenced the gene for melanocortin-2 receptor accessory protein (MRAP2 ) in 9418 blood DNA samples from several population studies. They detected 23 rare heterozygous variants, which were significantly associated with an increased risk of obesity (OR 3.8 in children and 2.9 in adults)....

Diabetes Res Clin Pract. 2020;168:108372. doi: 10.1016/j.diabres.2020.108372Here, the Italian Society for Pediatric Endocrinology and Diabetology carried out a literature search in Medline and Embase and also Diabetes Societies websites until May 21st, 2020 for guidelines and recommendations on T1D management during the COVID-19 pandemic. They state that there is currently no evidenc...

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(7): 2985–2993. PMID: 30844071.Endogenous Cushing syndrome (CS) is a severe condition characterized by excessive glucocorticoid production (1). In 20% of cases, cortisol is secreted autonomously by the adrenal cortex (2). Adrenal CS is mostly caused by unilateral cortisol-producing adrenal ad...

To read the full abstract: J Clin Med. 2019;8(12):2204. sandrolavignera@unict.itThis cross-sectional study evaluated morpho-volumetric development of the testis, endocrine function and sperm parameters in 102 young adult childhood cancer survivors (CCS). About 1/3 of patients showed low testicular volume (<24 ml); the Hodgkin disease group showed significantly lower total testicular volumes, comp...

Brief Summary: This double-blind, randomized trial, showed that 2 dosing regimens of alirocumab, a human monoclonal antibody to proprotein convertase subtilisin kexin type 9 (PCSK9), reduced LDL-C in children as young as 8 years with heterozygous familial hypercholesterolemia inadequately controlled by statins. Efficacy was sustained over 2 years, and both regimens were generally well tolerated.Comment: Heterozygous familial hypercholesterolemia (HeFH) i...