ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(8): 3172–3180. PMID: 30865229.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency was among the first genetic disorders included in newborn screening (NBS) programs worldwide, based on 17-hydroxyprogesterone (17OHP) concentrations determined in dried blood spots (1). However, the success of NBS for...

To read the full abstract: J Cancer Res Clin Oncol. 2020 Jun;146(6):1451–1462. marloes.vandijk@amsterdamumc.nlChemo- and radiotherapy administered during childhood may compromise female reproductive function leading to premature depletion of the ovarian follicle pool. Childhood cancer survivors (CCS) women who pursue pregnancy may experience a lengthening of the time required to become pr...

To read the full abstract: JAMA. 2019;322(6):514–523. doi: 10.1001/jama.2019.10329Some children have a high genetic risk to develop type 1 diabetes (T1DM) and/or celiac disease. However, environmental factors may modify such risks. One arm of the TEDDY study assessed the influence of high gluten intakes on the development of celiac disease in genetically high risk children.<p clas...

To read the full abstract: Cell Metab. 2020 Jun 2;31(6):1120-1135.e7. doi: 10.1016/j.cmet.2020.04.013.This experimental rodent study of a PEGylated amphetamine (PEGyAMPH) designed to not cross the blood brain barrier is interesting for 2 reasons. First, it shows that its peripheral anti-obesity effects alone (without the central anorexic effects of amphetamine) are sufficient to achieve...

To read the full abstract: Am J Med Genet A. 2019 Apr;179(4):542–551.This study describes 7 individuals with hyperinsulinemic hypoglycemia caused by NSD1 gene mutations with 3 having persistent hyperinsulinemic hypoglycemia.The underlying mechanisms that lead to hyperinsulinaemic hypoglycemia in Sotos syndrome are not known. Since most of the previous...

To read the full abstract: Am J Hum Genet. 2019 May 2;104(5):985–989.This study reports the identification of a novel gene that is involved in the regulation of the pancreatic development.Understanding the molecular mechanisms of pancreatic development is important, for example to guide the progress of beta-cell replacement therapy for patients with Type 1 dia...

JAMA. 2018 Sep 11;320(10):1005–1016. doi: 10.1001/jama.2018.11628.The aims of this study were to assess whether in utero exposure to untreated gestational diabetes (using the IADPSG criteria) is associated with long-term risk of a disorder of glucose metabolism among mothers and greater adiposity among their children at 10 to 14 years post-partum.The Hyperglycem...

To read the full abstract: J Pediatr. 2019;206:56–65.e8.IGF-I plays a key role in fetal growth and development [1]. IGF-I exerts pleiotropic effects including cell proliferation, survival and differentiation, but also influencing metabolism and angiogenesis.Very preterm newborns show a rapid decline serum IGF-I concentrations that remain low for the first week...

Abstract: Nature. 2019 Mar;567(7747):234–238.In brief: In this article, the authors present evidence that the murine epiphyseal growth plate develops a postnatal stem cell niche with monoclonal properties, that are able to self-renew. They thereby challenge the concept of a continous depletion of progenitor cells as a limiting factor for bone growth.<p class="abste...

To read the full abstract: Lancet. 2018 Oct 13; 392(10155): 1321–1329The appearance of new technologies and treatment modalities are changing the fate of patients with diabetes. While until recently the global epidemic of type 1 diabetes (T1D) has been largely neglected (1), much data are being published on the impact of new technologies on metabolic control, quality of life and mic...