ESPE Yearbook of Paediatric Endocrinology

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...

To read the full abstract: EClinicalMedicine. 2020 Apr 30;22:100338. doi: 10.1016/j.eclinm.2020.100338.The gravitostat hypothesis was only recently proposed based on studies in rodents showing that the addition of external weights to the body limits the rate of weight gain, independent of leptin signalling. In rodents, this was achieved by inserting weighted balloons into the abdomina...

To read the full abstract: Nat Commun. 2018;9:4455.Here, the largest genome-wide association study (GWAS) to date on thyroid function and dysfunction, in 72,167 individuals testing 8 million genetic variants, substantially increased the number of loci that are involved in the regulation of thyroid function. It provides functional evidence that two newly identified genes are involved in t...

To read the full abstract: J Clin Endocrinol Metab. 2018;103:3720–28.This nationwide prospective surveillance study aimed to estimate the performance of the current UK recommended TSH threshold (10 mU/L on day 5 after birth) for newborn blood spot screening compared to lower thresholds: 8 mU/L and 6 mU/L. Over a 12-month period, the authors included all patients with positive TSH ba...

Cell Rep Med. 2022;3(1):100477. doi: 10.1016/j.xcrm.2021.100477. PubMed ID: 35106505Brief summary: To explore clinical heterogeneity, this study analyzed baseline visit data on 726 adults with newly diagnosed Type 2 diabetes (T2D) adults and identified in 4 distinct profiles (clusters of phenotypes), which predicted differences in subsequent disease progression and anti-diabetic treatments...

On Behalf Of The PanCareLIFE Consortium. m.e.m.vanderperk@prinsesmaximacentrum.nl Cancers (Basel). 2021; 13: 4598. PMID: 34572825.Brief Summary: This cohort study of female childhood cancer survivors (CCS) identified associations between specific nucleotide polymorphisms (SNP) in cytochrome P450 (CYP450) enzymes, which metabolize alkylating agents (AA), and variability in AA-induced o...