ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Cancer. 2018;124:2220-2227The Brief Coping Orientation to Problem Experience (brief COPE) questionnaire was designed to explore the coping strategies used by individuals in response to stress. It has been used to research various populations with chronic health conditions (1). ‘Betweenness centrality’ is a measure of centrality in a graph based on shortest path...

To read the full abstract: NeuroImage 2017; 159: 236-247The results of this study suggest that, compared to adolescents with a low risk, lean adolescents with a high familial obesity risk show a weaker activation of neural systems subserving attentional self-regulation in response to food-denoting words. These same changes were found in overweight or obese adolescents. It is interestin...

In Brief: This phase 1 study in healthy adults assessed the safety and feasibility of transcon-CNP, a novel prodrug that releases native C-type natriuretic peptide (CNP). The novel drug was well tolerated and CNP remained in systemic circulation for >7 days following a single dose.Commentary: Achondroplasia is caused by autosomal activating mutation in the fibroblast growth factor receptor 3 gene (FGFR3) resulting in constitutive receptor ac...

Brief Summary: IGF1R signaling in cells expressing Kiss1 gene affects energy balance, food intake, and physical activity in a sex-specific manner. Female IGF1RKiss1 mice showed lower body weight and food intake plus higher energy expenditure and physical activity. This phenotype was associated with higher proopiomelanocortin (POMC) expression. The additional deletion of insulin receptor (IR) in Kiss1-expressing cells reversed the lean phenotype seen in female IGF1R<...

Brief Summary: This study examined the role of the melanocortin 3 receptor ( MC3R ) gene in regulating body weight, height, and puberty timing. It found an association between various non-synonymous variants (NSVs) in the MC3R gene with energy homeostasis and puberty.Melanocortin 3 receptor (MC3R) is a G protein-coupled receptor involved in the hypothalamic system that regulates energy homeostasis, growth and puberty (1,2). Recent studi...

Brief Summary: This retrospective study evaluated the risk and clinicopathological features of second primary thyroid cancer (SPTC) in cancer survivors. The Surveillance, Epidemiology, and End Results (SEER) Program collected cancer incidence and mortality data from 8 population-based registries. They identified 7066 patients with SPTC and 83,113 patients with primary thyroid cancer (TC). The standardized incidence ratio (SIR) of SPTC in cancer survivors was higher than in the...

Brief Summary: This retrospective study evaluated fracture risk among 2372 children and adolescents (59% females, aged 1-16) with biopsy-proven celiac disease (CD) compared to 11,860 children without CD matched by age, sex, socioeconomic status, and population sector (general Jewish population, ultra-orthodox Jews and Arabs). The overall fracture incidence rate was higher in the CD group (256 vs 165 per 10,000 patient-years).Median age at the end of the ...

Brief Summary: This register-based cohort study compared the familial aggregation and heritability of childhood-onset (≤18 years) vs. adult-onset (19-30 years) type 1 diabetes (T1D), using data collected from over 2.9 million individuals born in Sweden between 1982-2010, and from their relatives. Adult-onset T1D showed weaker familial aggregation and lower heritability than childhood-onset T1D.Although T1D is considered a typical childhood...

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgaa131. doi: 10.1210/clinem/dgaa131. PMID: 32170311Genetic control of height has been widely explored using genome-wide association studies (GWAS) in multi-ethnic populations (1-4). Although familial short stature (FSS) is the most common type of short stature, its genetic profile and impact on bone metabolism remains to be investigated. This GWAS...

Clin Genet. 2020 Oct;98(4):402–407. 10.1111/cge.13816. PMID: 32683677.This short report describes two 46,XY siblings of consanguineous parents manifesting a complex syndrome consisting of multiple dysmorphic features including growth and developmental retardation, gastrointestinal disorders, musculoskeletal and cardiac anomalies, as well as ambiguous genitalia (non-palpable testes, micropenis, und...