ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(7): 2985–2993. PMID: 30844071.Endogenous Cushing syndrome (CS) is a severe condition characterized by excessive glucocorticoid production (1). In 20% of cases, cortisol is secreted autonomously by the adrenal cortex (2). Adrenal CS is mostly caused by unilateral cortisol-producing adrenal ad...

To read the full abstract: Cell Metabolism 2018; 28: 23–32Pathogenic mutations in the melanocortin-4 receptor gene (MC4R) are the most common cause of monogenic obesity. However, very limited treatment options exist. Therefore, these authors investigated a glucagon-like peptide-1 receptor agonist (GLP-1 RA) as a treatment option for these patients. The findings are of major signific...

Front Endocrinol (Lausanne). 2022 Feb 18;13:837450. doi: 10.3389/fendo.2022.837450. PMID: 35250887.Brief Summary: This paper discusses the use of Pluripotent Stem Cell (PSC)-derived pancreatic islets (SC-islets) for studying the basic biology, molecular mechanisms and therapeutic potentials of patients with congenital hyperinsulinism (CHI). The availability of CHI patient islets opens new a...

Cochrane Database Syst Rev, 2021. 10: p. CD004447 PMID: 34618915Brief Summary: This systematic review examined the effects of rhGH treatment in children with X-linked hypophosphatemia. Despite a significant improvement in height SDS from baseline, evidence from the 2 identified studies was limited to support its clinical use in these patients.X-linked hypophosphatemia (XLH) is an inherited disorder of phosphate homeostasis...

To read the full abstract: Lancet 218; 392: 451–530Despite great improvements in diabetes care, people with type 1 diabetes (T1D) remain at increased risk of mortality and morbidity, in particular from cardiovascular disease (CVD). How exactly diabetes leads to CVD and which factors contribute to the increased risk profile is still largely unknown. Molecular mechanisms are being stu...

To read the full abstract: Lancet Diabetes and Endocrinology 2018; 6: 114–121Cystic fibrosis (CF)-related diabetes (CFRD) impacts significantly on mortality and quality of life. Impaired glucose metabolism and CFRD are associated with poor weight and height gain and impaired lung function in children and adolescents (1). In that study, height and weight were lower in CF patients wit...

Brief summary: Treatment of Graves’ disease comprises anti-thyroid drugs, radioactive iodine ablation or total thyroidectomy (1,2). While definitive treatment of Graves’ disease is widely used in adults, anti-thyroid drug treatment is often used in the pediatric age group over years (1,2). The presented prospective monocenter study provides detailed information on quality of life of adolescents undergoing total thyroidectomy.Two recent studies ...

Diabetes Technol Ther. 2022;24:564-572. doi: https://pubmed.ncbi.nlm.nih.gov/35325567/Brief Summary: This physician survey-based study compared insulin dose recommendations between an artificial intelligence-based decision support system (ED-DSS) and 20 experienced physicians from 11 countries. Using data from 17 individuals with type 1 diabetes (T1D) treated with multiple daily insulin inj...

To read the full abstract: Endocrine. 2018 Jul; 61(1):76Hematopoietic stem cell transplantation (HSCT) is a curative treatment for life-threatening malignancies. However, late HSCT adverse effects cause substantial morbidity among long-term survivors. Metabolic complications, such as diabetes mellitus and hyperlipidemia, are the major late effects of pediatric HSCT, but the pathogenesis ...

Ann Neurol. 2021 Jul;90(1):143-158. doi: 10.1002/ana.26127. PMID: 33999436.Brief Summary: This study identifies biallelic HID1 variants in 7 patients with hypopituitarism and infantile encephalopathy. It provides genetic and functional evidence for a novel gene-disease connection and expands the list of central nervous system diseases caused by impairment of the trans-Golgi network.<p ...