ESPE Yearbook of Paediatric Endocrinology

PLoS One. 2018 Aug 16;13(8):e0202330.doi: 10.1371/journal.pone.0202330. Erratum in: PLoS One. 2019 Mar 19;14(3):e0214157.A sharp and unexplained rise in the incidence of gender dysphoria has been observed worldwide among adolescents, especially natal girls. The causes and outcomes (in terms of persistence-desistence rates) of adolescent-onset gender dysphoria ar...

To read the full abstract: N Engl J Med 2017;377:1313-1315“In 2010, 5-year-old Emily Whitehead was diagnosed with acute lymphoblastic leukemia.” So begins this remarkable story of how Emily became the first child to receive CART-19 (chimeric antigen receptor T-cell) therapy. She remains alive and well, and her successful treatment re-energised a whole line of research &#8...

J Clin Endocrinol Metab. 2020;105(7): e2439-48.https://pubmed.ncbi.nlm.nih.gov/32433752/Here, the authors investigated the effects of dexamethasone (DEX) on metabolism in individuals without CAH but treated with DEX during the first trimester of fetal life. Prenatal DEX exposure was associated with decreased beta-cell function and higher cholesterol concentrations.Pre...

To read the full abstract: Science 07 Dec 2018: Vol. 362, Issue 6419, eaat1327These authors report the frequencies of Metabolic Index traits in living species and used these values to define a set of model ecophysiotypes. They then populated the model Permian ocean with each ecophysiotype, and found that ocean warming increases the metabolic O2 demand amid declining supply; t...

To read the full abstract: J Clin Endocrinol Metab. 2020 Mar 1;105(3):dgaa037.This study aimed to assess the frequency of natriuretic peptide receptor type B gene (NPR2 ) variants in 87 children with familial short stature (FSS) and evaluate their response to GH therapy. By applying whole-exome or custom-targeted NGS panel sequencing, NPR2 variants were found in 5 children (5.7%) belonging to 4 families. These variants were cla...

To read the full abstract: J Clin Oncol. 2019;37(32):3018–3031. wassim.chemaitilly@stjude.orgThis retrospective study, with cross-sectional health outcomes analysis, evaluated Leydig cell function in 1516 childhood cancer survivors at a median duration of 22.0 years after cancer diagnosis. These patients are part of the St Jude Lifetime Cohort. An age- and sex-matched community control grou...

To read the full abstract: Acta Paediatr. 2019 Jun;108(6):1008–1015.This meta-analysis reviews the association between physical activity and age at menarche.The onset of puberty is a multifactorial trait including a wide range of genetic and environmental components. Age at menarche has been associated with several environmental factors such as ...

Brief Summary: This single-patient intervention study showed the efficacy of high-dose rhGH treatment in overcoming GH resistance in a child harboring a dominant-negative GH receptor (GHR) mutation.GH insensitivity includes a broad spectrum of defects (1). Laron syndrome is the best-known GH insensitivity syndrome, characterized by recessive mutations in GHR and good response to IGF-I treatment (2). Dominant-negative variants of GHR are extremely rare an...

Pituitary. 2021 Jun;24(3):465–481. doi: 10.1007/s11102-021-01148-1. PMID: 33939057.Frara et al. review the main endocrine manifestations of COVID-19 with its implications for pituitary diseases. The authors report on the possible direct and indirect involvement of the pituitary gland in COVID-19 infection, and also the impact of COVID-19 on the management of pituitary dise...

To read the full abstract: Diabetes. 2019 Aug;68(8):1604–1613. doi: 10.2337/db18-1308. Epub 2019 May 24. PMID: 31127056Maternal obesity is an important risk factor for neonatal hypoglycaemia. Maternal BMI predicts the risk of neonatal hypoglycaemia independently from maternal obesity suggesting that the link between maternal adiposity and neonatal hypoglycaemia is complex. Identifying the u...