ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Pediatrics. 2020, Mar; 145. doi: https://pediatrics.aappublications.org/content/pediatrics/145/3/e20190741.full.pdfCardiovascular health of transgender people was a hot topic in the transgender literature last year, triggered by previous findings that these individuals could have elevated risks for cardiovascular diseases b...

To read the full abstract: Crit Care Med. 2017; 45(12): 2078-2088This guideline replaces/updates the 2008 recommendations regarding the diagnosis and management of critical illness-related corticosteroid insufficiency (CIRCI) in adult and pediatric patients. In CIRCI, inadequate glucocorticoid-mediated anti-inflammatory activity is observed in relation to the severity of the critical illne...

To read the full abstract: Nature Medicine. 2019;25(11):1733–8. PMID 31700171.These authors sequenced the gene for melanocortin-2 receptor accessory protein (MRAP2 ) in 9418 blood DNA samples from several population studies. They detected 23 rare heterozygous variants, which were significantly associated with an increased risk of obesity (OR 3.8 in children and 2.9 in adults)....

PLoS One. 2020 Jun 26;15(6):e0234970. doi: 10.1371/journal.pone.0234970.In brief: Metabolite signatures were compared between children with normal weight, obesity, and both obesity and T2DM, by measuring 273 analytes in fasting plasma and a 24-hour urine sample. Twenty-two urine metabolites were uniquely associated with T2DM. Adolescents with T2DM have altered purine nucleoti...

J Clin Endocrinol Metab. 2022;107(7):1965-75. doi: 10.1210/clinem/dgac173.PubMed ID: 35323957Brief summary: This population-based birth cohort study related infancy serum testosterone concentrations at age 3 months to parameters of reproductive function at age 18 to 20 years in 259 males. Serum testosterone in infancy predicted adult total sperm counts, and other reproductive hormones and geni...

Brief summary: This narrative review summarizes the important progress made in the past 10 years in our understanding of the genetics of primary bilateral macronodular adrenal hyperplasia (PBMAH).Primary bilateral macronodular adrenal hyperplasia (PBMAH) is an adrenal cause of Cushing syndrome, attributed to the disrupted integrity of the adrenal cortex zonation that is important for steroidogenesis (1). Nowadays, the diagnosis of PBMAH ...

To read the full abstract: J Clin Endocrinol Metab 2017; 102:1702-1711Short stature is a common feature of children with Prader-Willi syndrome (PWS) as well as hypotonia, hyperphagia, obesity, hypogonadism, behavioral disturbances and hypothalamic dysfunction. Alterations in the GH/IGF1 axis are common in patients with PWS, GH deficiency occurring in approximately 74% and IGF-1...

To read the full abstract: J Clin Endocrinol Metab. 2020 Apr 1;105(4). PMID: 32170320In congenital hyperinsulinism (CHI) there is dysregulation of insulin secretion that leads to persistent hypoglycaemia. Mutations in the ABCC8/KCNJ11 genes which encode the pancreatic KATP channels proteins (SUR1/KIR6.2 respectively) are the most common causes of CHI. Mutations ...

Brief Summary: This comprehensive systematic review and meta-analysis provides crucial insights into the prevalence and diagnostic challenges of central diabetes insipidus (CDI), vasopressin deficiency (AVP-D), following transsphenoidal surgery (TSS) for pituitary tumours.Despite advances in pituitary surgery techniques, posterior pituitary dysfunction remains a common and challenging complication in immediate post-operative management (1). AVP-D is the ...

J Pediatr Endocrinol Metab. 2020; 33: 1257–1263. https://pubmed.ncbi.nlm.nih.gov/32845867/This retrospective study evaluated the prevalence of adrenal insufficiency after a single intra-articular corticosteroid injection (IACI) in 60 children with chronic arthritis. Adrenal insufficiency was diagnosed in 30% (18/60) and was associated with higher doses of injected corticosteroid. Media...