ESPE Yearbook of Paediatric Endocrinology

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. ...

Ze’ev Hochberg was fascinated by growth, a dominant topic during his long-standing career. He published 153 articles on growth according to PubMed, the first 1980 [1] and the last in April this year [2]. Synergy between thyroid hormones and growth hormone was recognized decades ago [3] but Ze’ev Hochberg added an important piece of knowledge on the impact of hypothyroidism on the growth plate as well as the effects of thyroid hormones, growth hormone and the combinat...

Brief summary: this early experimental study analyzed the effects of radiation on growth hormone secretion and short-term cell survival in a cell culture model of dispersed rat anterior pituitary cells.At the time of this study, growth retardation had already been recognized as a significant adverse effect of brain irradiation in humans and experimental animals. Such growth retardation had been associated with impaired secretion of growth hormone in chil...

Brief Summary: This cohort study examined the longitudinal growth trajectory of children with congenital hypothyroidism (CH) during the first 3 years of life. It involved 1474 children in Isfahan Province, Iran, and analyzed data from 2002-2022 since the initiation of CH screening (May 2002).Overall, 38.8% of children with CH were born of consanguineous marriages and 61.6% were delivered by cesarian section, one of the highest rates in the world1,2<...

Brief Summary: This population-based national register study searched for imprinting-related disorders in all liveborn singletons in Sweden (N=2,084,127) born between 1997 and 2017 with follow-up to Dec 2018. They identified 1,044 children with Beckwith-Wiedemann Syndrome (BWS), Prader-Willi Syndrome (PWS)/Silver-Russell Syndrome (SRS), or central precocious puberty (CPP), of whom 52 were conceived using ART therapy. The risk of being diagnosed with any of these disorders was ...

Brief Summary: Two Japanese children with Silver Russell Syndrome (SRS) are reported, one with a de novo pathogenic frameshift sequence variant (Case 1) and the other with a 3.4 MB de novo microdeletion (Case 2) in HMGA2 (High Mobility Group AT-hook 2; OMIM *600,698). Both genetic findings meet the criteria established by the ACMG/AMP1. Case 1 had 5 of 6 (no body asymmetry) and Case 2 had 4 of 6 (no prominent forehead or body asymmetry) of...

Brief Summary: This genome-wide association study (GWAS) meta-analysis of 271,040 European participants investigated the genetic determinants of thyroid function, including reference range serum TSH, FT4, free and total T3, proxies for metabolism (T3/FT4 ratio), as well as dichotomized high and low TSH levels. It identified 259 independent associations for TSH, 85 for FT4, and novel associations for thyroid hormone (TH) metabolism (T3/FT4 ratio). Genetic variants explained 14....

Brief Summary: This meta-analysis of studies of classical CAH indicates that prenatal androgen exposure masculinizes and defeminizes play behavior in humans.Comment: Sex differences in juvenile-play behavior have been documented across a number of animal species, including non-human primates and in humans. It is proposed that juvenile play allows the developing individual to practice skills that are important for survival and adult social roles. In human...

Brief Summary: This study created a temporally- and spatially-resolved proteomic atlas of human adipogenesis. It highlights cell restructuring and spatial reorganization of metabolic pathways to optimize cells for lipid accumulation and identifies C19orf12 as a differentiation-induced protein that regulates lipid storage in adipocytes.This study provides a comprehensive and detailed proteomic map that captures the dynamic changes in protein abundance and...

Brief Summary: This cross-sectional study in n=19 first-degree relatives of type 2 diabetes mellitus (T2DM) patients and n=19 control individuals without obesity found that while the intrinsic adipogenic potential of subcutaneous adipose tissue (SAT) is unaffected by a family history of T2DM, alterations in lysyl oxidase (LOX) mRNA expression and polyunsaturated fatty acids in triglycerides are linked to increased T2DM risk, independent of obesity. These findings suggest that ...