ESPE Yearbook of Paediatric Endocrinology

achim.kramer@charite.de Diabetes 2021;70:1985–1999http://www.ncbi.nlm.nih.gov/pubmed/34226282Brief Summary: This study analyzed gene expression in subcutaneous adipose tissue samples of adults with obesity collected before and after the hyperinsulinemic–euglycemic clamp or control saline infusion. They demonstrate that insulin regulat...

To read the full abstract: Pediatr Diabetes. 2018;19:749–755.Disordered eating behaviors (DEBs) may lead to full blown eating disorders and these might impair patients’ adherence to chronic disease management. Both type 1 diabetes mellitus (T1DM) and celiac disease (CD) are associated with DEBs. Adolescents with T1D and eating disorders have worse metabolic control and a higher...

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 ...

regis.coutant@chu-angers.fr J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1568–e1576. doi: 10.1210/clinem/dgab845https://pubmed.ncbi.nlm.nih.gov/34918072/Brief Summary: This cross-sectional study describes how levels of Sertoli and Leydig cell hormones differ between 351 obese and overw...

To read the full abstract: Endocrinology. 2019 Aug 1;160(8):1907–1925. PMID: 31237608Gestational diabetes (GDM) is associated with impaired beta-cell function in the offspring and this leads to increased risk of type 2 diabetes mellitus (1). However, the underlying mechanisms are not well understood. GDM exposure may alter islet gene expression and function in the fetus. Impai...

To read the full abstract: Proc Natl Acad Sci U S A. 2019; 116(44): 22294-22299. PMID: 31611378.Androgen biosynthesis in the human fetus proceeds through the adrenal sex steroid precursor dehydroepiandrosterone (DHEA), which is converted to testosterone in the gonads, followed by further activation to 5α-dihydrotestosterone (DHT) in genital skin, thereby facilitating male external genit...

To read the full abstract: Eur J Pediatr 2017; 176:873-879Achondroplasia (ACH) is the most common genetic form of disproportionate short stature, occurring in 1:15,000 –1:40,000 live births [28]. Most patients have a gain of function mutation in the transmembrane domain of the fibroblast growth factor receptor 3 (FGFR3), leading to prolonged intracellular MAPK signalin...

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: Over the last decades changing incidences for autoimmune diseases have been observed. However, no data are available so far on long-term trends, incidence over the whole age spectrum (child, adults, geriatric patients), and incidence of co-occurrence of the different autoimmune diseases. The presented study provides an extensive population-based cohort study performed in the UK.The authors used electronic health care records of 22 million ...

Brief Summary: This process study describes the adaptation of previously established clinical practice guidelines for hyperthyroidism to better suit the local healthcare context in Pakistan. Adaptation utilized the GRADE-ADOLOPMENT method.Hyperthyroidism is more prevalent in Pakistan (2.9%) than in the US and Europe. Pakistan faces unique challenges due to its diverse geography, dietary habits, and healthcare financing issues. Local guidelines are needed...