ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: PLoS Med. 2019 Oct 1;16(10):e1002926. doi: 10.1371/journal.pmed.1002926.The authors analysed a huge dataset from the Chinese national programme of preconception health checks, which include measurements of fasting plasma glucose. Overall, 13.15% (n =847,737) had impaired fasting glucose and 1.18% (n =76,297 women) had diabetes, of whom only...

To read the full abstract: Pediatr Diabetes. 2018;19:749–755.Disordered eating behaviors (DEBs) may lead to full blown eating disorders and these might impair patients’ adherence to chronic disease management. Both type 1 diabetes mellitus (T1DM) and celiac disease (CD) are associated with DEBs. Adolescents with T1D and eating disorders have worse metabolic control and a higher...

To read the full abstract: Nature Medicine 2019; 25(3):507-516.This paper shows that quantitative leptin expression is controlled by redundant cis elements and trans factors that interact with the proximal promoter together with a long noncoding RNA.Friedman’s research group discovered the adipocyte hormone leptin more than 20 years ago. They identified loss o...

To read the full abstract: Sci Rep. 2017; 7(1): 7427Prenatal dexamethasone treatment has been suggested over three decades ago to prevent virilization of a female fetus affected with 21-hydroxylase deficiency due to genetic mutations in the CYP21A2 gene. However, current treatment guidelines for CAH regard this treatment still as experimental, mainly because follow-up studies of treated fetu...

In Brief: This phase 2 study investigated the effect of the RANKL inhibitor denosumab on fibrous dysplasia lesion activity, as well as the rebound in bone turnover after treatment discontinuation.Commentary: Denosumab is a humanized monoclonal antibody that inhibits RANKL with potent but transient antiosteoclastic effects, and discontinuation of denosumab treatment is associated with a rebound in bone turnover. In this study, eight women received high do...

In Brief: These authors studied liver-specific SIRT2 knockout mice to examine how loss of hepatocyte SIRT2 (Sirtuin 2) prevents bone loss in aged mice. Hepatocyte SIRT2 deficiency led to upregulation of Leucine rich α2 glycoprotein (LRG1) in hepatocyte-derived small extracellular vesicles (sEVs) which inhibited osteoclastogenesis in bone marrow.Commentary: Liver-bone communication has been implicated in bone homeostasis. P...

Brief summary: This paper describes 18 patients with bi-allelic leptin deficiency (LEP, n=11) or leptin receptor deficiency (LEPR, n=7), including 10 new cases and two novel variants. In addition, in a review of the literature (until July 2022), the authors identified n=75 patients living with LEP deficiency and n=90 with LEPR deficiency (n=152 included for comparison between groups).<p class=...

Brief summary: In the prospective population-based Growing Up in Singapore Toward Healthy Outcomes (GUSTO) study (n=437 children, 51.9% boys), the effect of parent-reported screen time in infancy was tested on EEG characteristics and correlated to cognitive outcome. Mean daily screen time at 12 months of age was 2 hours. Infant screen time was associated with altered cortical EEG activity at 18 months and was suggested to explain observed alterations in attention and ...

In Brief: The authors conducted genome sequencing on 151 mother–father–offspring trios from 68 vertebrate animal species in order to estimate and compare germline mutation rates (GMRs). They found a 40-fold variation in GMR per generation between the species. Higher GMRs were observed in species that have a longer generation time, older age at puberty and fewer offspring per generation.Comment: Mutations in germline DNA during gametogenesis are...

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. ...