ESPE Yearbook of Paediatric Endocrinology

Pediatr Nephrol, 2022. 37(4): p. 859-869 PMID: 34542703Brief Summary: This prospective observational cohort study investigated growth rate after kidney transplant in children with chronic kidney disease (CKD) and growth failure, who received or did not receive rhGH treatment before transplantation. Patients pre-treated with rhGH showed better growth rates with taller height SDS at 7 years after transplantation. Positive effects of pre-transplant...

J Bone Miner Res. 2021 Aug;36(8):1594-1604.Abstract: https://pubmed-ncbi-nlm-nih-gov/33900645/In Brief: Enzyme replacement therapy with human ENPP1-Fc protein in Enpp1asj/asj mice, a murine model of ENPP1 deficiency, restored circulating levels of PPi, prevented clinical manifestations and decreased mortality.Commentary: ENPP1 deficiency causes gen...

To read the full abstract: Environmental health perspectives vol. 127,10 (2019): 107011. doi: https://ehp.niehs.nih.gov/doi/full/10.1289/EHP5570?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmedThis study identifies the effects of exposure to environmentally rel...

To read the full abstract: Support Care Cancer. 2020 Feb 11. Epub ahead of print. hess2@phoenixchildrens.comThe development of a second neoplasia is a major concern during the follow-up of childhood cancer survivors (CCS). Secondary cancers account for nearly 50% of non-relapse mortality at 5 years. Thyroid tumours represent 10-20% of subsequent neoplasia cases, due to the high sensitivity of the g...

To read the full abstract: Physiol Res. 2018 May 4;67(2):331-337See Comment under 2.10...

To read the full abstract: Am J Med Genet A. 2016 Nov;170(11):2927-2933The vast majority of proteins that a cell secretes or displays on its surface first enter the endoplasmic reticulum (ER), where they fold and assemble. Only properly assembled proteins advance from the ER to the cell surface. The ER coordinates protein biosynthetic and secretory activities in the cell. Alterations in ER homeost...

To read the full abstract: Nature 2018;555:210Up to now, it was thought that genetics would play a major role in shaping the gut flora. However, this study, in a cohort of 1,046 healthy Israeli individuals with a well-defined clinical phenotype, suggests that only 2-8% of human microbiome variability is explained by genetics, as compared to 92-98% explained by environmental influences. This...

Brief summary: A four centre prospective longitudinal study of 315 transgender and non-binary adolescents in the USA showed improvement in gender congruence and appearance and some reduction of depression and anxiety (but not in birth-registered males) after 2 years of gender affirming hormone (GAH) treatment.The race is on to provide clear evidence to support hormonal intervention for transgender adolescents. This longitudinal study employed a number of...

Brief summary: This meta-analysis examined the association of autism spectrum disorders (ASD) with cardiometabolic diseases. The study included 276 173 individuals with autism and found a 69.4% higher relative risk of dyslipidemia, indicating higher risks of heart disease and stroke. The risk of type 2 diabetes mellitus (T2D) was 247% higher in individuals with autism, and the risk of type 1 diabetes mellitus (T1D) was 64% higher. Genetic factors, obesity, and autoimmune disea...

Brief Summary: This study investigated daily glucose patterns in young children with classic congenital adrenal hyperplasia (CAH) and their relation with hormonal circadian rhythm.Comment: The aim of treatment in classical CAH is to provide adequate glucocorticoid and – when necessary – mineralocorticoid replacement to prevent adrenal crises and suppress excess adrenal androgen production. Glucocorticoids regulate glucose homeostasis, and patie...