ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Clin Endocrinol (Oxf). 2019 Dec;91(6):770–775. PMID: 31520536Diazoxide is the first line treatment for patients with hyperinsulinaemic hypoglycaemia (HH). The vast majority of patients tolerate diazoxide well without any major complications. However, diazoxide is known to cause several side effects including hypertrichosis, neutropaenia, thrombocytop...

To read the full abstract: BMJ Open Diabetes Research and Care2019; 7:e000721. PMID: 31908791Understanding of the molecular mechanisms underlying neonatal diabetes mellitus (NDM) has helped to transform the clinical management of some patients. Those with NDM due to mutations in the KCNJ11/ABCC8 genes can now be switched to oral sulphonylurea treatment and their daily insu...

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: J Bone Miner Res. 2019;34(12):2171–2182.In brief: The effect of RANKL inhibition on fibrous dysplasia development is explored here using a mouse model of a fibrous dysplasia-like disorder. Anti-mouse RANKL monoclonal antibody treatment prevented the development and growth of lesions. However, after discontinuation of anti-mouse ...

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: Disease Models & Mechanisms vol. 13,3 dmm040105. 13 Mar. 2020. doi: https://dmm.biologists.org/content/13/3/dmm040105.longThese authors developed an in vitro model to study human GnRH neuron transcriptome during developmental differentiation. Gonadotropin-releasing hormone (GnRH) neurons in the hypothalamus govern t...

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: Pediatr Blood Cancer. 2020 Mar;67(3):e28106. ebrignardello@cittadellasalute.to.itPremature aging has been proposed as a paradigm to explain the early cardiovascular disease (CVD) that affects young-adult childhood cancer survivors (CCS). Protein glycation is recognized as one of the main factors contributing to aging. Advanced glycation end products (AGEs) are a...

To read the full abstract: Pediatr Diabetes. 2020 Feb;21(1):106–111. doi: 10.1111/pedi.12936. PMID: 31618523Children with type 1 diabetes (T1DM) should be screened regularly for signs of retinopathy by fundus photography in order to prevent visual impairment. According to Danish national guidelines, screening should take place at ages 12, 15, and 18 years after a minimum of 3 years of diab...

To read the full abstract: N Engl J Med. 2020;382(22):2117–2128. doi: https://pubmed.ncbi.nlm.nih.gov/32233338/Kelly et al. randomly assigned (1:1) n =251 obese adolescents (age 12 to <18 years) to receive either liraglutide (3.0 mg), a long-acting glucagon-like peptide-1 agonist, or placebo subcutaneously once daily in addition to lifestyle therapy. Liraglutide w...