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...

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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...

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...

To read the full abstract: Endocrine. 2018 Jul; 61(1):76Hematopoietic stem cell transplantation (HSCT) is a curative treatment for life-threatening malignancies. However, late HSCT adverse effects cause substantial morbidity among long-term survivors. Metabolic complications, such as diabetes mellitus and hyperlipidemia, are the major late effects of pediatric HSCT, but the pathogenesis ...

Brief summary: Neonates of mothers suffering from Graves’ Disease during pregnancy are at risk for hyper- or hypothyroidism postnatally. The risk for hypothyroidism of neonates exposed to maternal anti-thyroid drugs until birth is unknown. This large retrospective study aimed at investigating 1) the incidence of hypothyroid neonates in a large cohort of mothers treated with anti-thyroid drugs until birth, and 2) identify a cutoff for maternal anti-thyroid drug doses assoc...

Brief summary: This observational study aimed at clarifying the contribution of pathogenic copy number variants (PCNVs) and candidate pathogenic variants in 86 children born small-for-gestational-age with short stature (SGA-SS).Approximately 10% of children born SGA do not show catch-up and remain permanently short (SGA-SS) (1,2). There is increasing evidence suggesting that genetic abnormalities underlie a high proportion of SGA-SS children. In this stu...

JAMA Pediatr. 2021;175(2):e205199. doi: 10.1001/jamapediatrics.2020.5199. PMID: 33346824This nationwide population-based study assessed the long-term risk of cardiovascular events in patients who had received rhGH therapy during childhood and adolescence. The study cohort comprised 3.408 subjects treated under the GHD, SGA or ISS indications, and 50 036 age-, sex-, and region-base...