ESPE Yearbook of Paediatric Endocrinology

In Brief: The authors analysed data from the nationwide Child and Adolescent Twin Study in Sweden (CATSS) to estimate the heritability of avoidant restrictive food intake disorder (ARFID) as defined by DSM-5 criteria. Of the 16 951 twin pairs born between 1992 and 2010, 682 (2.0%) children were identified to have ARFID. By modelling shared risk in monozygous compared to dizygous twin pairs, they estimated the heritability of ARFID as 79% (95%CI, 70–85).<...

Brief summary: Genomic information (nuclear, Y-chromosome and mitochondrial DNA data) of 13 Neanderthals from two neighboring caves in Siberia have been analysed to infer their social community organization. The data show greater diversity of maternal lineages, which is best explained by female-biased migration between communities.This study is fascinating as it illustrates what information can be gained with genetic data and analysis beyond the medical ...

Diabetologia. 2020;63(12):2605–2615. doi: 10.1007/s00125-020-05276-4.Diabetes diagnosed at <6 months of age is often of monogenic origin. However, 10-15% of affected infants do not have a pathogenic variant in one of the 26 known neonatal diabetes genes. In this study, 166 infants diagnosed at <6 months of age without such pathogenic variants showed all the the classic feat...

Nat Med, 2021 Jun;27(6):1088–1096. 10.1038/s41591-021-01349-y. https://pubmed.ncbi.nlm.nih.gov/34045736/This paper reports the high prevalence of MC4R loss-of-function (LoF) variants in a normal population and their large impact on longitudinally assessed anthropometric traits from birth to young adult life.Th...

Nat Metab. 2021 Feb;3(2):228–243. doi: 10.1038/s42255-021-00346-2. PMID: 33619380.In brief: In this genome-wide association study, the authors were able to disentangle the mechanism that uncouples adiposity from its known cardiometabolic complications. They identified 62 genomic loci, at which the same allele is associated with both higher adiposity and lower cardiometabol...

Eur Heart J. 2022 Mar 17:ehac112. PMID: 35296881, doi: 10.1093/eurheartj/ehac112.Brief Summary: This translational study explored the molecular and cellular mechanisms whereby testosterone impacts vascular function. The findings suggest that hypospadias is associated with vascular dysfunction and represents a risk factor for hypertension and cardiovascular disease in adulthood due to impair...

Reprod Sci. 2022 Jan;29(1):260-269. PMID: 33788173, doi: 10.1007/s43032-021-00561-y. Brief Summary: This study from Israel investigated semen samples from 26 transgender girls aged 14-18 years and notes a general reduction in semen quality parameters. Fertility counselling is mandatory in all transgender adolescents prior to considering hormone interventions, but in ...

nathalie.rives@chu-rouen.fr Andrology. 2022; 10: 279–290. PMID: 34628730.Brief Summary: This multicentric prospective study performed an accurate evaluation of testicular tissue after frozen-thawing to investigate if this testicular tissue freezing (TTF) alters testicular architecture and integrity in pre-pubertal and pubertal boys with cancer. Promising histological outcomes were found. ...

p.froguel@imperial.ac.uk Diabetes 2022;71:694–705https://doi.org/10.2337/db21-0373Brief Summary: In this observational cross-sectional study in 128 randomly selected young obese adults (BMI 37.2±0.3 kg/m2; age 18.4±0.3 years) from the Severe Obesity in Pakistani Population (SOPP), screening by whole-exome analysis found 3% had ...

JAMA. 2021;326(8):717-27. doi: 10.1001/jama.2021.11165.PubMed ID: 34427600Brief summary: This large repeated cross-sectional study identified all individuals aged <20 years with physician-diagnosed diabetes in 6 areas in the US in 2001, 2009, and 2017. Over these 16 years, the prevalence of Type 1 diabetes (T1D) increased by 45% (95% CI, 40%–50%) and the prevalence of Type 2 diabetes...