ESPE Yearbook of Paediatric Endocrinology

Brief summary: The authors provide the first description of antagonistic hormone mutations as the cause of congenital disease in humans. The paper describes detailed characterizations of two novel, antagonistic leptin mutations underlying a formerly unrecognized form of congenital leptin dysfunction and delineate the challenges these mutations pose to the diagnosis and therapy of the disease.After the initial description of biologically inactive leptin v...

In Brief: This manuscript was prepared from presentations given at the ESPE New Inroads for Child Health (NICHe) conference held in May 2009 in Marstrand, Sweden. It reviewed the concept of plasticity in developmental programming and evidence for the role of epigenetic mechanisms. It became widely accepted as a leading reference on this topic with currently >750 citations in Google Scholar.Comment: Ze’ev Hochberg had a brilliant, creative mind. ...

J Cancer Surviv. 2021; 15: 259–272. https://pubmed.ncbi.nlm.nih.gov/32844376/Long-term treatment effects are possible reasons for reduced fertility and adverse pregnancy outcomes in childhood cancer survivors (CCS) (1). This observational study reports perinatal and health outcomes of offspring born to CCS using assisted reproductive technologies (ART). CCS were almost 2-fold more like...

Int J Obes (Lond). 2020 May;44(5):1185–1190. https://pubmed.ncbi.nlm.nih.gov/31776435/These authors investigated the effect of maternal and paternal obesity on gene expression level in the mouse blastocyst. Firstly, they show that female and male offspring were differentially sensitive to an obesogenic maternal environment in the early phase of preimplantation. Male blastocysts from o...

Mol Cell Endocrinol. 2022 Apr 15;546:111570. PMID: 35051551, doi: 10.1016/j.mce.2022.111570. Brief Summary: This report emphasizes the importance of screening for copy number variants (CNVs) using parallel genomic techniques for diagnosing unsolved cases of complete androgen insensitivity syndrome (CAIS) as well as other DSDs, where traditional sequencing techniques fail to detect a genetic...

J Clin Endocrinol Metab. 2018 Dec 21. [Epub ahead of print]. doi: 10.1210/jc.2018-01759.This study aimed to investigate Human fetal adrenal (HFA) steroidogenesis by analyzing adrenal glands from 1st and 2nd trimester. Steroidogenesis in the HFA is tightly regulated throughout the first and second trimesters, which is crucial because the adrenal steroid hormones affect the overall intrauterine endocri...

To read the full abstract: Cell Metab. 2019 4;29:1363–1375.Mesenchymal stem and/or stromal cells (MSCs) regulate immune system and have been associated with inflammatory and autoimmune diseases. The IGF system is mainly known for its role in the regulation of growth, development and metabolism. A possible role of IGF-I in inflammation has recently been proposed [1, 2], whereas the e...

To read the full abstract: Kidney Int 2017;92:599-611Klotho was originally identified as a senescence-related protein because mice carrying hypomorphic Klotho alleles (kl/kl) develop premature aging with low bone turnover and osteoporosis. Primary function of Klotho is to form a specific receptor complex with fibroblast growth factor (FGF) receptor 1 (FGFR1) through which it mediates the bio...

To read the full abstract: J Clin Endocrinol Metab. 2017;102:2516-2524The Adult Health Study (AHS) is a clinical program established in 1958 by the Radiation Effects Research Foundation (RERF) as a subset of the Life Span Study to examine the late effects of atomic bomb exposure (1-2). This cross-sectional analysis evaluated the dose-response effect of radiation exposure on the prevalence of thyr...

Brief summary: In this study, 10 145 children of 1–8 years of age, selected from a prospective systematic cohort study and stratified according to HLA-risk categories for type-1-diabetes (T1D), underwent a combined evaluation of pancreatic autoimmunity, glucose metabolism and anthropometry at different timeframes. Diagnosis of T1D occurred in 131/10,145 children (1.3%). Faster height growth, both before and after age 3 years, was significantly associated with the appearan...