ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Endocrinology, April 2020, 161(4):1–18The aim of this study was to examine the role of growth hormone (GH) on gut microbiome and intestinal phenotype by using two animal models characterized by an opposite GH status: GH gene-disrupted (GH-/-) mice, characterized by GH deficiency; and bovine GH transgenic (bGH) mice with chronic GH excess. The abundance of common bacterial genera, such as Parasutterella, Ruminococc...

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: Sci Rep. 2020;10(1):3078. doi: 10.1038/s41598-020-59743-4Short summary: This study describes a specific mechanism of reduced bone formation secondary to hyperglycaemia. In hyperglycaemic states, advanced glycation end products (AGEs) downregulate the highly selective magnesium transporter expression of NIPA2 in osteoblasts. This results in ma...

To read the full abstract: Lancet Child Adolesc Health. 2019 Jan;3(1):44–54.This article reviews cross-sectional, longitudinal and intervention studies regarding the bidirectional relationship between obesity and puberty.An increasing prevalence of obesity amongst children and adolescents is reported globally. Epidemiological cross-sectional and...

To read the full abstract: Pediatr Blood Cancer. 2018; 65(11): e27304.Observational studies in large cohorts of cancer survivors have reported that cancer survivors exposed to abdominal radiation have an increased risk of both insulin-dependent and non-insulin-dependent diabetes mellitus, with a prolonged latency between radiation exposure and diabetes onset. The irradiation of the pancr...

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 ...

Brief summary: Over the recent years several publications reported on next generation sequencing (NGS) in cohorts of patients with congenital hypothyroidism (1). Based on these data, diagnostic yield was higher in patients with gland-in-situ, than with thyroid dysgenesis. Further studies performed NGS only in cohorts of patients with gland-in-situ, excluding thyroid dysgenesis forms such as athyreosis, ectopy, or hypoplasia (2). The publication of Levaillant ...

Brief summary: This collaborative study identified 13 monoallelic rare loss-of-function (LoF) variants in the serotonin 2C receptor (HTR2C) gene in 19 unrelated individuals with hyperphagia, severe early-onset obesity, and some degree of maladaptive behaviour. The authors used exome sequencing in 2548 individuals with severe obesity and 1117 control individuals without obesity. They found that HTR2C variants cause monogenic obesity by demonstrating t...

Brief summary: This review article offers an update on knowledge on prophylactic gonadectomy in differences of sex development (DSDs) and evaluates the latest existing clinical evidence, which is generally limited, on risk of gonadal neoplasia potential in each group of DSDs.On average 15% of DSD patients with Y chromosome material predispose to gonadal neoplasms especially gonadal germ cell tumors (GGCTs); the overall risk ranges between 0.8% and 40% de...

J Clin Endocrinol Metab. 2020;105:3203–3214. doi: 10.1210/clinem/dgaa443. PMID: 32652002The authors performed a large genome-wide association study (GWAS) to assess the role of common genetic variants in the response to GH therapy. A total of 614 children treated with GH were included: 276 with idiopathic GHD, 297 with ISS, and 41 born SGA. The findings implicate some novel mechanisms...