ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Best Pract Res Clin Endocrinol Metab. 2020:101418. PMID: 32414619.Cushing’s syndrome (CS) is the constellation of signs and symptoms resulting from excessive exposure to cortisol (1). While exogenous CS is relatively common, endogenous CS accounts for only 2.3 to 3.2 new cases per million per year; 10% of these present in children (2–4). Endogenous CS is...

Hum Reprod. 2020 Oct 1;35(10):2312–2322. 10.1093/humrep/deaa185. PMID: 32862222. https://academic.oup.com/humrep/article/35/10/2312/5899242In brief: This study shows that both the GnRH stimulation test and serum inhibin B have insufficient specificity to discriminate congenital hypogonadotropic hypogonadism (CHH) from c...

ISPAD Jenious Group. Pediatr Diabetes. 2021;22:1115-1119. https://pubmed.ncbi.nlm.nih.gov/34741569/Brief Summary: This cross-sectional survey describes healthcare professionals’ (HCPs) experiences of telemedicine use in diabetes centers across the world, along with the adaptations and challenges associated with its implementation.This is one out of several public...

Metabolism. 2022 Apr;129:155141. doi: 10.1016/j.metabol.2022.155141. Epub 2022 Jan 22. PMID: 35074314. https://www.metabolismjournal.com/article/S0026-0495(22)00019-1/fulltextBrief Summary: the authors used pharmacological and transgenic models to demonstrate the role of GRK2, G protein coupled-recept...

To read the full abstract: N Engl J Med 2017;377:633-643Proprotein convertase subtilisin/kexin type 9 (PCSK9) regulates levels of plasma LDL-C by interacting with the LDL receptor. After binding and internalization, PCSK9 directs the LDL receptor to lysosomal degradation and inhibits its recycling to the cell surface, and thus accelerates the degradation of hepatic LDL receptors. This reduces the ...

To read the full abstract: Proc Natl Acad Sci U S A 2019;116(27):13670–13679. doi: https://pubmed.ncbi.nlm.nih.gov/31213533/In this paper, Perry et al. studied several animal models to disentangle the mechanism by which leptin suppresses hunger. In rats, the hyperphagia induced by a 48 h fast, or a hypoglycemic hyperinsulinemic clamp, or uncontrolled diabetes, was completely s...

J Clin Endocrinol Metab. 2021, 106(10):e4142-e4154. doi: 10.1210/clinem/dgab352. PMID: 33999151.Brief Summary: The authors show that patients with hypopituitarism and FOXA2 gene defects also need screening for dysfunction of the pancreas.The Forkhead box A2 transcription factor (FOXA2) is important for normal development of the central nervous system, i...

Psychoneuroendocrinology. 2022; 136: 105625. PMID: 34920399https://pubmed.ncbi.nlm.nih.gov/34920399/Brief Summary: This is a systematic review and meta-analysis examined the relationship between cortisol and major depressive disorder in global youth (10–24 years old).Impaired regulation of the hypothalamic-pituitary-adrenal (HPA) axis has been implicated in the de...

Brief summary: Over the recent years several publications reported on next generation sequencing (NGS) in cohorts of patients with congenital hypothyroidism (1). Based on these data, diagnostic yield was higher in patients with gland-in-situ, than with thyroid dysgenesis. Further studies performed NGS only in cohorts of patients with gland-in-situ, excluding thyroid dysgenesis forms such as athyreosis, ectopy, or hypoplasia (2). The publication of Levaillant ...

Brief summary: PTEN hamartoma tumor syndrome is one of five well known genetic syndromes associated with differentiated thyroid carcinoma (1,2). PTEN hamartoma tumor syndrome comprises four different entities: Cowdwn syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome caused by mutations in the PTEN (phosphatase and tensin homologue) tumor suppressor gene [3]. This prospective longitudinal mu...