ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Pediatr 2018; 198: 260-264The incidence of T1DM in children <15 years is increasing at an overall annual relative rate of 3.9% (95% CI 3.6-4.2) [11]. The prevalence of GHD is estimated at approximately 1:4000 to 1:10000 [12-14]. Management of the very rare patients who have both T1DM and GHD raises questions of efficacy and safety of ...

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(6):2336-2345Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol production in the adrenal cortex. Classic CAH represents the most common cause of primary adrenal insufficiency in childhood (10). Infant mortality in patients with CAH has decreased since the advent of...

To read the full abstract: Hum Mol Genet. 2017; 26(18): 3600-3614X-linked adrenoleukodystrophy (ALD) is caused by genetic mutations in the ABCD1 gene coding for a peroxisomal transmembrane protein responsible for the metabolism of very long chain fatty acids (VLCFA). It manifests with a broad phenotype mainly involving the peripheral and central nervous system and the adrenals. However, the exact pa...

To read the full abstract: J Clin Endocrinol Metab. 2017;102:4578-4587In chronic inflammatory diseases, inflammatory cytokines and exogenous glucocorticoid exposure affect growth through systemic effects on the GH–IGF-1 axis and local effects on the growth plates. Low plasma IGF-1 levels are related to systemic GH insufficiency or to hepatic GH resistance. Changes in IGF binding proteins ha...

To read the full abstract: Diabetologia. 2018;61:831-838T1DM in childhood and adolescence is a high burden for patients and family members. This is reflected by research that shows an increased incidence of psychiatric disorders in this patient group. Especially depression, eating disorders and anxiety disorders seem to be more prevalent. However data are mainly from small cohorts or regional...

To read the full abstract: Lancet Diabetes Endocrinol 2017; 5(8):622-667The Lancet Diabetes and Endocrinology Commission provides a comprehensive, evidence-based review of diabetes in sub-Saharan Africa, one of the most important emerging diseases and markers of the global epidemic of non-communicable diseases. The authors provide a detailed analysis of the significant knowledge gaps in t...

To read the full abstract: Int J Endocrinol Metab 2017; 15(3):e55451Systematic neonatal screening for congenital hypothyroidism (CH) was first proposed by Dr Jean Dussault, a Canadian (adult) endocrinologist, in 1974. It was rapidly implemented in most high-income countries in the late 1970’s and 1980’s. Ideally, a screening program should be highly sensitive (able to ...

To read the full abstract: Lancet 2017;389:2473-2481We are all familiar with the ‘placebo’ effect, when the psychological anticipation of a ‘benefit’ of treatment is so strong that it adds to or even outweighs the actual physical benefits. Many doctors have even admitted to prescribing placebo tablets, or “sugar pills” to their patients, for exam...

In Brief: This phase 1 study in healthy adults assessed the safety and feasibility of transcon-CNP, a novel prodrug that releases native C-type natriuretic peptide (CNP). The novel drug was well tolerated and CNP remained in systemic circulation for >7 days following a single dose.Commentary: Achondroplasia is caused by autosomal activating mutation in the fibroblast growth factor receptor 3 gene (FGFR3) resulting in constitutive receptor ac...

Brief summary: This Danish single-center retrospective study evaluated the occurrence of pathological findings on neuroimaging among children diagnosed with central precocious puberty (CPP).CPP incidence has been increasing over the last four decades (1) and is more prevalent in females than in males. Most cases are idiopathic (2) but brain magnetic resonance imaging (MRI) is routinely performed in order to exclude rare pathological causes.<p class="...