ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Science. 2017 Aug 18;357(6352):717-720See comment on 6.13...

BMJ Paediatrics Open 2020;4:e000630. doi: 10.1136/bmjpo-2019-000630. PMID: 32411831This systematic review and meta-analysis provides an up to date report on rhGH in patients with Prader–Willi syndrome (PWS). The review included 463 papers published until September 2019. 16 randomized (RCTs) and 20 not randomized (NRCTs) trials were selected for the meta-analysis. The findings suppor...

Cell Rep. 2021 Apr 13;35(2):108981. doi: 10.1016/j.celrep.2021.108981. PMID: 33852861.Mutations in the promotor region of the insulin gene are associated with a subtype of neonatal diabetes mellitus (NDM). These mutations lead to abnormal transcription of the insulin gene and do so by deleting the C1 and E1 cis regulatory elements, or three different single base-pair substitutions in ...

European Journal of Endocrinology (2020) 182, 559–567. doi: 10.1530/EJE-19-0646. PMID: 32337961 paolocavarzere@yahoo.itThese authors enrolled 80 prepubertal patients (46 boys; 34 girls) with idiopathic isolated GHD and normal brain MRI, who were treated with rhGH for at least two years. The data show that GH therapy could be safely stopped ...

moab@chop.edu Pediatr Blood Cancer. 2022; 69: e29674. PMID: 35338690.Brief Summary: Childhood cancer survivors (CCS), particularly those exposed to local irradiation, are at increased risk for thyroid disease and thyroid surgery. This retrospective, monocentric study compared rates of surgical complications among 42 CCS undergoing thyroid surgery compared to 596 non-CCS controls (sporadic/familial thyroid cance...

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 Network Open 2018;1:e185275The authors describe a small case series of four patients, age range 18–28 years, with Prader-Willi syndrome and obesity. All had received childhood growth hormone therapy, two had previous bariatric surgery, and all had psychiatric comorbidities before the current intervention. All received deep brain stimulation, via elect...

Diabetes Care. 2021 Jan;44(1):35–42. doi: 10.2337/dc20-1520. PMID: 33184150.The key findings from this cohort of patients with ABCC8 neonatal diabetes mellitus (NDM) are: A) good glycaemic control is maintained over the long-term without any serious adverse events (including severe hypoglycaemia) despite high doses of sulphonylurea, B) some patients show improvements in neurologica...

Sci Rep. 2020 Dec 9; 10: 21507. https://pubmed.ncbi.nlm.nih.gov/33299020/This cross-sectional study of 246 childhood acute lymphoblastic leukemia (cALL) survivors aimed to analyze the relationships between various blood biomarkers and cardiovascular risk, and to test the link between endotoxemia and cardiometabolic complications. A high leptin-adiponectin ratio was associated with obesity, ...

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...