ESPE Yearbook of Paediatric Endocrinology

Eur J Endocrinol. 2021 Oct 8;185(5):617-627. doi: 10.1530/EJE-21-0387. PMID: 34403359. https://eje.bioscientifica.com/view/journals/eje/185/5/EJE-21-0387.xmlBrief Summary: This study investigates the role of Whole Exome Sequencing in the differential diagnosis of delayed puberty, evaluating a geno...

sophie.welsch@uclouvain.be Diabet Med. 2022; 39: e14720. PMID: 34652870.Brief Summary: Childhood cancer survivors are at increased risk of hyperglycaemia and diabetes due to cancer treatments as asparaginase, steroids and total body irradiation. This single center, retrospective study analyzed the prevalence of hyperglycaemia in 267 patients treated between 2004 and 2019 for hematologic malignancie...

Department of Epidemiology, School of Public Health, Brown University, Providence, Rhode Island, USAcatherine.buck@yale.edu Obesity (Silver Spring). 2021 Jun;29(6):1036–1045. doi: 10.1002/oby.23160. https://pubmed.ncbi.nlm.nih.gov/34029449/Brief Summary: This longitudinal study assessed the ass...

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(7): 2985–2993. PMID: 30844071.Endogenous Cushing syndrome (CS) is a severe condition characterized by excessive glucocorticoid production (1). In 20% of cases, cortisol is secreted autonomously by the adrenal cortex (2). Adrenal CS is mostly caused by unilateral cortisol-producing adrenal ad...

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: J Clin Invest 2020;130(4):2001–16.In this study, Perry et al used their well-established animal model of fasted rats to unravel how feeding induces hyperthermia and energy expenditure.They showed that intracerebroventricular injection of leptin normalized fasting induced low plasma epinephrine and norepinephrine levels and body temperat...

To read the full abstract: Science 2019;365:eaat9351.As in humans, weight gain in mice leads to fatty liver disease, inflammatory adipose tissue, and insulin resistance. The depletion of the microbiota through antibiotic treatment rescued this weight gain. The cohousing of T-Myd88–/– mice transferred the weight gain to wild-type mice. The major feature of the microbiota formed within T-Myd88–/– mice was a reduction in Clostri...

To read the full abstract: N Engl J Med. 2019;380:1316–1325.This large multicenter randomized double-blind placebo-controlled trial, in euthyroid women with thyroid peroxidase antibodies and a history of miscarriage or infertility, found no effect of levothyroxine substitution from before conception to the end of pregnancy on likelihood of live birth.In 2011, ...

To read the full abstract: Hum Mol Genet. 2019 Apr 15;28(8):1357–1368.This whole-exome study from a large cohort of familial self-limited delayed puberty identifies the first EAP1 mutations leading to reduced GnRH transcriptional activity and resulting in a phenotype of self-limited delayed-puberty.Enhanced at puberty 1 (EAP1) is a nuclear trans...

To read the full abstract: Cell Reports. 2018 Dec 4;25(10):2643–2652.e4.More on the gut and the reward response: Ghrelin has been reported to encourage eating through dopamine that is important for the reward response. Here, the authors injected 38 subjects with ghrelin, while exposing them to various odors, both food and non-food based. They were also shown r...