ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Sci Rep. 2019 Jun 13;9(1):7727As outlined in paper 10.1, intrauterine and early neonatal infections with a number of viruses are thought to contribute to the incidence of type 1 diabetes (T1DM) later in life. Amongst the viruses to be considered, enteroviruses have been found to be the most important. It is therefore important to know whether vaccination against enteroviruses would reduce the incidence of autoimmune di...

Anthropol Anz. 2018 Jun 11;74(5):365–376. DOI: 10.1127/anthranz/2018/0828• This literature review evaluated the phenomenon of faster growth, earlier maturation and often taller adult height in migrant youth as compared to their non-migrant relatives.• The authors propose a new framework to understand growth regulation and determinants of adult heigh...

Brief summary: In this large registry-based study, including 32 117 children and young people (aged 1.5–25 years) with type 1 diabetes (T1D), the use of continuous glucose monitoring (CGM) was associated with decreased rates of diabetic ketoacidosis (DKA) and severe hypoglycemia. Of interest, some CGM metrics predicted risk for these complications.CGM systems are now widely used by children with T1D, and there is evidence both from clinical trials a...

To read the full abstract: American journal of human genetics vol. 106,1 (2020): 58–70. doi: https://www.sciencedirect.com/science/article/pii/S0002929719304677?via%3DihubBy performing next-generation sequencing in 240 unrelated probands with congenital hypogonadotropic hypogonadism and follow-up in multiple animal models, this study identifies ...

To read the full abstract: J Clin Invest. 2020;130:1479–1490.This detailed genetic and molecular analysis of a three-generation family reveals a new form of autosomal dominant tumor susceptibility syndrome entitled familial multinodular goiter (MNG) with schwannomatosis. Biallelic alterations of the DGCR8 gene were found in all affected patients: First, all patients harbored the same heterozygous germline mutation p.E518K. Secondly...

Front Endocrinol 2021; 12:624507. doi: 10.3389/fendo.2021.624507– This systematic review identified 41 Chinese studies totalling 7,853,756 newborns who underwent neonatal CAH screening– The overall incidence of CAH in China was 1/23,024 (95% CI, 1/25,757 to 1/20,815)– Among the CAH patients, the Male:Female ratio was 1.92:1, and 76% presented with salt wasting<p class=...

J Bone Miner Res 36, 1387–1402. (2021)Abstract: https://pubmed-ncbi-nlm-nih-gov/33724538/In brief: Premature growth plate closure under anti-hedgehog treatment is caused by impaired retinoic acid metabolism in growth plate progenitor cells. In this mouse model, administration of retinoic acid receptor blockers rescued the phenotype and normalized growth plate maturation.<p class="a...

Ashley.H.Shoemaker@VUMC.org International Journal of Obesity 2022, Epub 2022 Jan 3. doi: 10.1038/s41366-021-01043-6. https://pubmed.ncbi.nlm.nih.gov/34975146/Brief Summary: This double-blind, placebo-controlled trial assessed the efficacy of 36 weeks of GLP1RA treatment with exenatide e...

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(12): 6148–6154. PMID: 31393570.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency has an incidence of 1 in 10 000 to 20 000 in most populations. It is one of the most common monogenic autosomal recessive disorders (1). It has been suggested that the condition is common because it may confe...

To read the full abstract: Pediatr Diabetes. 2020 Mar;21(2):319–327. doi: 10.1111/pedi.12971. Epub 2020 Jan 3. PMID: 31885123Dissatisfaction with technologies, discontinuation of use and inappropriate adjustments of insulin pump settings pose important areas of concern in adolescents using diabetes technologies. This study searched for predictors of hybrid closed loop (HCL) discontinuation...