ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(12): 6148–6154. PMID: 31393570.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency has an incidence of 1 in 10 000 to 20 000 in most populations. It is one of the most common monogenic autosomal recessive disorders (1). It has been suggested that the condition is common because it may confe...

To read the full abstract: Environ Health Perspect. 2019 Jan;127(1):17004.This population-based cohort study suggests sex-specific associations between prenatal exposure to perfluoroalkyl substances and subsequent altered pubertal development.Endocrine disrupting chemicals (EDCs) impact populations as much as individuals given their ubiquity in our e...

Brief Summary: This phase 2, open-label, multicenter trial examined the efficacy of setmelanotide, a melanocortin-4 receptor agonist, in patients aged 6 to 40 years with obesity due to hypothalamic injury. Setmelanotide reduced body mass index (BMI) and hunger levels in most participants; 89% achieved a reduction in BMI of at least 5% after 16 weeks. These results indicate that setmelanotide is a promising treatment for hypothalamic obesity.This phase 2 ...

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...

iScience. 2021 Oct 11;24(11):103257. PMID: 34761181, doi: 10.1016/j.isci.2021.103257.Brief Summary: The authors explored the relationship between sex hormones and lipids in pre-pubertal children, young post-pubertal cisgender men and women, and transgender adolescents on gender affirming hormone (GAH) tre...

Brief Summary: This multicenter, observational study compared the treatment of diabetes and outcomes between 2 distinct refugee communities in German-speaking countries and among native children in the same countries. The use of advanced diabetes technologies, such as insulin pumps or automated insulin delivery (AID) systems, is restricted by the refugee status. Additionally, parameters such as HbA1c and body mass index (BMI) have been identified to differ by country of origin...

Brief Summary: This study investigated the effects of anorexia nervosa (AN) on the insulin-like growth factor (IGF) axis in female adolescents. It evaluated levels of various proteins and their role in the IGF axis, including pregnancy-associated plasma protein A2 (PAPP-A2) and stanniocalcins (STC-1 and STC-2). The reduced levels of PAPP-A2 may impair IGFBP cleavage, thereby reducing IGF-I bioavailability. IGF1 plays a crucial role in regulating growth, metabolism, and bone he...

J Clin Endocrinol Metab. 2019 Feb 1;104(2):390–396.doi: 10.1210/jc.2018-01105. PubMed PMID: 30247609.Polymorphisms in sex hormone genes have been described in gender dysphoric individuals with inconsistent findings. In this case-control study of 380 trans women and 344 control males, functional variants in 12 sex hormone signaling genes were studied. Significant a...

To read the full abstract: Am J Med Genet A. 2016 Nov;170(11):2927-2933The vast majority of proteins that a cell secretes or displays on its surface first enter the endoplasmic reticulum (ER), where they fold and assemble. Only properly assembled proteins advance from the ER to the cell surface. The ER coordinates protein biosynthetic and secretory activities in the cell. Alterations in ER homeost...

Brief summary: The AMOS2 study is a randomized, open label, multicentre trial. It reports 2-year BMI changes in n=25 adolescents (age 13–16 years) after metabolic and bariatric surgery (MBS) (Roux-en-Y gastric bypass n=23, sleeve gastrectomy n=2) compared to n=23 adolescents who received intensive non-surgical treatment. After 2 years, BMI change was −12.6 kg/m2 in the MBS group compared to only −0.2 kg/m2</s...