ESPE Yearbook of Paediatric Endocrinology

Eur J Endocrinol. 2021 Oct 8;185(5):617-627. doi: 10.1530/EJE-21-0387. PMID: 34403359. https://eje.bioscientifica.com/view/journals/eje/185/5/EJE-21-0387.xmlBrief Summary: This study investigates the role of Whole Exome Sequencing in the differential diagnosis of delayed puberty, evaluating a geno...

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 ...

To read the full abstract: BMJ Open Diabetes Research and Care2019; 7:e000721. PMID: 31908791Understanding of the molecular mechanisms underlying neonatal diabetes mellitus (NDM) has helped to transform the clinical management of some patients. Those with NDM due to mutations in the KCNJ11/ABCC8 genes can now be switched to oral sulphonylurea treatment and their daily insu...

To read the full abstract: Trans Vis Sci Tech. 2019; 8(3):29. doi: 10.1167/tvst.8.3.29• This study investigates the feasibility of acquiring diagnostic quality fundus photographs in children using a child-friendly smartphone.• Photographs were acquired in 43 patients (mean age 6.7 years) with i.e. retinoblastoma, Coats’ disease, commotio retinae and optic nerve hypoplasia.•...

To read the full abstract: Diabetes. 2019 Apr 8. pii: db190045. doi: 10.2337/db19-0045.This study assessed the incidence of permanent neonatal diabetes mellitus (PNDM) in patients with Trisomy 21.Patients with Trisomy 21 have an increased prevalence of autoimmune conditions, such as Type 1 diabetes, celiac disease, alopecia, vitiligo and autoimmune thyroid disorder...

To read the full abstract: JAMA Pediatr. 2017;171:1176-1183Adolescence is certainly the most difficult age for reaching T1DM treatment and HbA1c goals. In this age group, most patients have deteriorated metabolic control, and higher risk for acute complications, such as severe hypoglycemia and DKA. Getting into therapeutic contact is very hard in this period of life for diabetes teams ...

Brief Summary: This retrospective study assessed the outcome of thyroid ultrasound (US) surveillance in childhood cancer survivors (CCS) exposed to radiotherapy (RT). 306 CCS were monitored with thyroid US. Patients received TBI (45%) and/or RT to craniospinal (44%), chest (11%), and neck regions (6%). Thyroid US surveillance was started at a median interval of 9.1 years after RT; 150 patients (49%) had thyroid nodule(s); 44 patients underwent surgery, and 28 had a final diagn...

Diabetologia. 2020;63(12):2605–2615. doi: 10.1007/s00125-020-05276-4.Diabetes diagnosed at <6 months of age is often of monogenic origin. However, 10-15% of affected infants do not have a pathogenic variant in one of the 26 known neonatal diabetes genes. In this study, 166 infants diagnosed at <6 months of age without such pathogenic variants showed all the the classic feat...

Brief Summary: This paper discusses the potential use of artificial intelligence (AI) in neonatology for clinical practice and research. The authors highlight the importance of multi-stakeholder involvement, and the need for well designed protocols to not only test outcomes but also to address the ethical issues involved and usability, bias, transparency and acceptability.We have been using AI since the 1950s when automated ECG interpretations became ava...

To read the full abstract: N Engl J Med. 2020;382:341–352.Teprotumumab, an IGF-1R monoclonal antibody, showed promising results for the treatment of Graves’ orbitopathy in a first phase 2 study reported in 2017 [1]. Here, this randomized double-masked, placebo controlled phase 3 multicenter study confirms those initial promising results in patients with moderate-to severe Graves’ eye disease: The primary outcome of proptosis reduc...