ESPE Yearbook of Paediatric Endocrinology

Publisher: W&N (18 Mar. 2021). ISBN-10: 1474619967The authors describe this book as ‘a short, practical, timely guide to the tools you need to understand the numbers we read in the news everyday - and how we often get them wrong’.One of the societal consequences of the COVID-19 pandemic has been the rising public interest in numbers and statistics. ‘Armchair experts’ in statistics and epidemiology are no lon...

JAMA Netw Open. 2021;4(3):e214117. https://bit.ly/3zopFZ4This prospective observational cohort study (n=4638) measured vitamin D level in the year before undergoing COVID-19 testing. The risk of a positive COVID-19 test in Black, but not White, individuals was 2.64-fold higher if vitamin D level was 30–40 ng/ml compared to > 40 ng/ml.Vitamin D may improve immune functi...

Nature 2020 Dec; 588(7836): 112–117https://go.nature.com/3go7UjOThirst is sensed by two distinct types of stimuli – osmotic and hypovolaemic. The authors show that in mice these two stimuli act via separate mechanisms and neuron types, and lead to distinct drinking behavioural responses. High blood osmolality induces osmotic thirst that drives water consumption. By contrast, hypovolaemia driv...

To read the full abstract: J Clin Endocrinol Metab. 2017;102:4578-4587In chronic inflammatory diseases, inflammatory cytokines and exogenous glucocorticoid exposure affect growth through systemic effects on the GH–IGF-1 axis and local effects on the growth plates. Low plasma IGF-1 levels are related to systemic GH insufficiency or to hepatic GH resistance. Changes in IGF binding proteins ha...

NPJ Genom Med. 2021 Dec 20;6(1):107. doi: 10.1038/s41525-021-00274-w. PMID: 34930920https://www.nature.com/articles/s41525-021-00274-wBrief Summary: This cross-sectional study describes the genetic data of a cohort of patients with self-limited delayed puberty, finding a high prevalence of CCDC141 gene mutations. Usi...

To read the full abstract: Hum Mol Genet. 2019 Apr 15;28(8):1357–1368.This whole-exome study from a large cohort of familial self-limited delayed puberty identifies the first EAP1 mutations leading to reduced GnRH transcriptional activity and resulting in a phenotype of self-limited delayed-puberty.Enhanced at puberty 1 (EAP1) is a nuclear trans...

Clin Genet. 2020 Sep;98(3):303-307. doi: 10.1111/cge.13805. PMID: 32617964.In this case series, David et al. describe clinical features of 4 patients in 2 unrelated consanguineous families with TTC26 ciliopathy due to a homozygous c.695A>G p.Asn232Ser mutation. Three of the patients had MRI findings consistent with pituitary stalk interruption syndrome (PSIS), a congenital anomaly o...

To read the full abstract: J Clin Endocrinol Metab. 2020 Jan 30. pii: dgaa040. doi: 10.1210/clinem/dgaa040. PMID: 31996917.The International FIPA Consortium recommend that aryl hydrocarbon receptor-interacting protein (AIP ) gene mutations are worth screening for prospectively in family members of AIPmut patients, and the detected carriers should be clinically followed. AI...

To read the full abstract: J Clin Endocrinol Metab. 2018 Feb 1;103(2):649-659A minimum level of energy availability is required for the onset of puberty, whereas increased fat mass has been shown to be associated with precocious onset of puberty1,2. Recent genome-wide association studies have identified several loci for age at menarche also associated with obesity3-5. Whethe...

Brief summary: This maternal genome-wide meta-analysis of gestational duration (n=195 555) found 22 associated loci and an enrichment in genes expressed during labour. The related meta-analysis of preterm delivery (18 797 cases, 260 246 controls) revealed seven associated loci and large genetic similarities with gestational duration. Maternal alleles that increase gestational duration had a negative effect on birth weight.Preterm delivery is one...