ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This prospective cohort study measured day 3 serum calcium and 25OH vitamin D (25OHD) in 1002 mother-newborn pairs to establish reference ranges in vitamin D replete babies.Calcium declines in the first days of life and is frequently measured in the neonatal nursery, not only for symptomatic newborns but also for conditions such as prematurity, low birth weight or maternal diabetes mellitus. French guidelines recommend an oral bolus of Vit...

Brief Summary: This single centre cross-sectional study used a self-reported questionnaire to evaluate ovarian function in 1333 female young adult childhood cancer survivors (CCS).The authors used two different indicators of primary ovarian insufficiency (POI): induced puberty, reported in 5.3% and estrogen replacement therapy (ERT) at assessment, reported in 9.3%. Induced puberty was correlated with more aggressive cancer treatments, in particular the u...

Brief Summary: This case-series describes the clinical characteristics and genetics of 8 patients with hereditary hypophosphatemic rickets (HHR). It highlights the challenges faced in diagnosis and management.Hypophosphatemic rickets (HHR) is often underdiagnosed or misdiagnosed, leading to delays in proper treatment. Misdiagnosis can result in inappropriate therapies and worsening of the condition. The cases presented highlight the importance of compreh...

In Brief The authors report a genome-wide association study (GWAS) on Type 2 diabetes (T2D), including data from 2 535 601 individuals (39.7% non-European ancestry), including 428 452 with T2D. They identify 1,289 independent GWAS signals (at P < 5×10−8), of which 145 loci are novel. These genetic signals cluster into 8 groups, with differing cardiometabolic trait associations and differing cell-specific profiles of gene activation (open chro...

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...

Nat Med. 2021 Dec;27(12):2104-2107. https://pubmed.ncbi.nlm.nih.gov/34887578/Brief Summary: This study used single-cell transcriptomic analyses to generate a cell atlas of the human fetal and neonatal small intestine. Notably, the authors identified a subset of fetal enteroendocrine K/L cells (named FIKL) that express high levels of insulin and other beta cell genes.T...

J Clin Endocrinol Metab. 2022;107(7):1965-75. doi: 10.1210/clinem/dgac173.PubMed ID: 35323957Brief summary: This population-based birth cohort study related infancy serum testosterone concentrations at age 3 months to parameters of reproductive function at age 18 to 20 years in 259 males. Serum testosterone in infancy predicted adult total sperm counts, and other reproductive hormones and geni...

To read the full abstract: J Clin Endocrinol Metab. 2019;104:3287-3295.The current definition of idiopathic short stature (ISS) refers to a heterogeneous group of short children, in the absence of any underlying detectable cause, including both normal variants of growth and pathological conditions. ISS subjects have been reported to reach an average final height of −1.5 SDS in boys...

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...

To read the full abstract: Physiol Res. 2018 May 4;67(2):331-337See Comment under 2.10...