ESPE Yearbook of Paediatric Endocrinology

Brief summary: Emont et al. created a cell atlas of human and mouse white adipose tissue, which goes a long way in informing our understanding of the complexity of adipose tissue.Although adipocytes make up the largest proportion of adipose tissue volume, the cellular structure of adipose tissue is far more complex and includes adipose tissue progenitor cells (APCs), fibroblasts, vascular cells and immune cells. We are also beginning to understa...

J Clin Endocrinol Metab. 2020;105(2):dgaa465. doi: 10.1210/clinem/dgaa465. PMID: 32685970This study aimed to identify potential (epi)genetic causes of short stature in 20 SGA children (13 boys; 7 girls) treated with rhGH. Exome sequencing, single-nucleotide polymorphism (SNP) array (both performed in the whole cohort) and genome-wide methylation analysis (performed in a random subset of 10 ...

To read the full abstract: J Clin Endocrinol Metab. 2018 Feb 1;103(2):649-659A minimum level of energy availability is required for the onset of puberty, whereas increased fat mass has been shown to be associated with precocious onset of puberty1,2. Recent genome-wide association studies have identified several loci for age at menarche also associated with obesity3-5. Whethe...

Transplantation. 2020; 104: 1644–1653. https://pubmed.ncbi.nlm.nih.gov/32732843/This retrospective study analyzed the incidence and risk factors for obesity in a large (n=410), single center cohort of pediatric solid-organ transplant recipients, who received their first transplant between January 1, 2002 and December 31, 2011 (median transplant age 8.9 years; median follow-up ...

T1DI Study Group. Nat Commun. 2022 Mar 21;13(1):1514. https://pubmed.ncbi.nlm.nih.gov/35314671/Brief Summary: This study of 5 birth cohorts of individuals at high risk for type 1 diabetes (T1D) used machine learning methods to explore trajectories from autoantibodies appearance to T1D progression. They identified 11 distinct latent health states and individuals progressed according to one o...

To read the full abstract: Horm Res Paediatr. 2019;92:293–301Growth hormone deficiency (GHD) in childhood may influence bone accrual and bone peak mass, ultimately affecting bone density in adulthood (1). In prepubertal GHD children, there is no evidence of increased risk of fractures, but relative lower bone density measured by dual X ray absorptiometry (DXA) has been reported. Interpretation of DXA values in small children is biased by bo...

To read the full abstract: Cancer. 2018 Sep 1; 124 (17): 3576.Glucocorticoids still represent one of the pillars in the treatment of paediatric hematologic malignancies, but they cause excessive weight gain through several mechanisms. However, it is unclear whether these glucocorticoids have a long-lasting effect on body weight, because studies have focused mainly on the acute effects du...

To read the full abstract: N Engl J Med. 2020;382:341–352.Teprotumumab, an IGF-1R monoclonal antibody, showed promising results for the treatment of Graves’ orbitopathy in a first phase 2 study reported in 2017 [1]. Here, this randomized double-masked, placebo controlled phase 3 multicenter study confirms those initial promising results in patients with moderate-to severe Graves’ eye disease: The primary outcome of proptosis reduc...

To read the full abstract: Hum Mol Genet. 2019, Jul 15; 28: 2319–29. doi: https://academic.oup.com/hmg/article/28/14/2319/5424416This study provides evidence that MYRF is important in the development of coelomic endothelial derived cells, and early gonadal development in both males and females. It combines detailed phenotypic assessment of patients and whole geno...

To read the full abstract: JCI Insight. 2018 Oct 18;3(20). pii: 99631.This paper describes a new form of goitrous congenital hypothyroidism associated with mutations in the solute carrier family 26 member 7 gene (SLC26A7) in 6 unrelated families. In patients, a partial iodide organification defect (PIOD) with normal iodide uptake was observed, hence these mutations cause a new f...