ESPE Yearbook of Paediatric Endocrinology

...

To read the full abstract: Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):551–573.This review provides a state of the art in the field of hyperinsulinaemic hypoglycemia (HH). The physiology of insulin secretion is discussed followed by the classification of the different subtypes of HH and then a detailed description of all the monogenic forms of HH. Novel forms of HH, 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...

...

Bone Miner Metab. 2021 Sep;39(5):851-857Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34115219/In brief: Vitamin D plays a pivotal role in calcium homeostasis and bone health; a question is therefore frequently raised regarding the risk of fractures in children with vitamin D deficiency. This is more pertinent in safeguarding cases where it is not uncommon to fin...

Brief Summary:This study used single-cell RNA-seq and murine transgenic models combined with elegant cell lineage tracing to characterise the gene expression profiles and trajectories of pituitary thyrotropes. It identifies a novel population of pituitary thyrotropes that co-express Nr5a1 (Sf1) and Pouf1 (Pit1) and a novel developmental trajectory for a subpopulation of Nr5a1-derived thyrotropes.Classical studies on pituitary cell lineages and cell diffe...

J Biochem. 2020 Sep 1;168(3):305-312. doi: doi: 10.1093/jb/mvaa050. PMID: 32302394.This study shows that mice mitochondrial regulatory gene Mitol-deficient mice display reduced growth in combination with anterior pituitary hypoplasia and reduced growth hormone levels.MITOL encodes a ubiquitin ligase. Ablation of Mitol in nestin-expressing cells ...

Hum Mol Genet. 2022 May 10:ddac093. doi: 10.1093/hmg/ddac093. Online ahead of print. PMID: 35535691Brief Summary: This genome-wide association study (GWAS) of patients with thyroid dysgenesis identified a genetic risk locus for thyroid athyreosis and ectopy. In depth genetic analyses of the disease associated region suggested a new disease mechanism of thyroid dysgenesis mediated by impaired Wnt ...

klaus.mueller@regionh.dk Transplant Cell Ther. 2021 Sep;27(9): 778.e1-778.e8. PMID: 34091072.Brief Summary: Several studies in cancer survivors have reported an increased prevalence of metabolic syndrome (MetS), which is often observed in the absence of overt obesity. Data about MetS in survivors of pediatric hematopoietic stem cell transplantation (HSCT) are scarce. This cross-sectional cohort study...