ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Hum Reprod. 2020, May 15; 10.1093/humrep/deaa041. doi: https://academic.oup.com/humrep/articleabstract/35/5/1099/5837511This study provides a comprehensive reference of the protein-coding and non-coding genome from 24 testes and 24 ovaries of human fetuses. It used an RNA sequencing approach to investigate non-coding sequences, and to ident...

To read the full abstract: Pediatr Blood Cancer. 2020, Apr; 67: e28169. doi: https://www.ncbi.nlm.nih.gov/pubmed/32020769This thought-provoking paper looked at the malignancy risk in DSD from a different perspective. In this study, patients with malignant germ cell tumors (GCT) were identified in registries of pediatric GCT treatment from 1995 to 2005 and were then cross-referenced with ...

To read the full abstract: Lancet Diabetes Endocrinol. 2019; 7(11): 855-865. PMID: 31542384A.Endogenous Cushing’s syndrome is a rare, serious endocrine condition characterized by chronic overproduction of cortisol (1). It is most often caused by a pituitary adenoma (i.e. Cushing’s disease), while other causes include ectopic ACTH secretion or primary adrenal neopl...

To read the full abstract: Front. Endocrinol. 2020 11:142. doi: 10.3389/fendo.2020.00142• A delayed transition from the infancy to the childhood growth stage contributes to sub-optimal growth outcomes.• Using a novel method to assess the timing of infancy-childhood transition (quantification of patterns of adjacent monthly weight-for-age z-score (WAZ) deviation correlations), th...

To read the full abstract: JAMA Pediatr. 2019 Aug 5;173(10):e192430. doi: 10.1001/jamapediatrics.2019.2430.The authors systematically reviewed published evidence on the prevalence of overweight and obesity in children aged 2–13 years. Based on data on 477 620 children from 28 European countries, they conclude that the prevalence is very high but appears to have stabilized in ...

To read the full abstract: Cell Metab. 2019 4;29:1363–1375.Mesenchymal stem and/or stromal cells (MSCs) regulate immune system and have been associated with inflammatory and autoimmune diseases. The IGF system is mainly known for its role in the regulation of growth, development and metabolism. A possible role of IGF-I in inflammation has recently been proposed [1, 2], whereas the e...

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(8): 2998–3009.Conventional glucocorticoid (GC) therapy in adrenal insufficiency (AI) does not fully mimic the endogenous cortisol circadian rhythm, and this may adversely affect long-term health. In the recent DREAM trial (Dual Release Hydrocortisone vs. Conventional Glucocorticoid Replacement in H...

Front Pediatr 2019, 7:144. DOI: 10.3389/fped.2019.00144• The outcomes of feminizing genitoplasty of 46,XX individuals with CAH were reviewed in this cross-sectional study.• The study highlights the importance of cultural sensitivities, access to medical treatment and timing of the diagnosis on attitudes toward feminizing genitoplasty in Malaysia.<p cl...

To read the full abstract: J Clin Invest 2018;128:960-969Mouse models for PWS are urgently needed to facilitate drug development for treatment of hyperphagia and obesity in PWS patients. Here, the authors set out to create a mouse model that better recapitulates human PWS; they chose Snord116 as the target. Snord116 comprises a cluster of noncoding RNAs (ncRNAs) on paternal chromosome 15q11.2. Deletio...

To read the full abstract: Endocrinology. 2018 Jan 1;159(1):368-387Hypothalamic inflammation has been linked to the development and progression of obesity and its sequelae. Obesity in rodents and humans is associated with gliosis of the arcuate nucleus, a key hypothalamic region for the regulation of energy homeostasis and adiposity. Gliosis, the activation of astrocyte and microglial cell popula...