ESPE Yearbook of Paediatric Endocrinology

Orphanet J Rare Dis. 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. https://www.ncbi.nlm.nih.gov/pubmed/32819397This is an excellent and detailed systematic review on all relevant aspects of the MRKH syndrome. This review is also very timely, due to the many recent genetic and therapeutic advancements and the last in-de...

PLoS ONE 2021;16: e0245372. doi: 10.1371/journal.pone.0245372– According to pharmacopeia, unopened insulin vials must be stored in a refrigerator (2–8 °C) while storage at ambient temperature (25–28 °C) is usually permitted for the 4-week usage period during treatment– The authors investigated whether insulin remains stable and retains biological activity...

Cochrane Database Syst Rev. 2021 Aug 23;8(8):CD008901.Division of Molecular Genetics and Department of Pediatrics, Columbia University Medical Center, New York, NY, USA. vvt2114@cumc.columbia.edu. PMID: 34424546Brief Summary: This systematic review evaluated the efficacy and safety of rhGH therapy in improving lung function, quality of life and clinical status of children and young adults (aged up t...

To read the full abstract: Cell. 2020. doi: 10.1016/j.cell.2020.04.034Short summary: In this study, rather than focusing on genes associated with obesity, the authors studied genetic variants associated with thinness (BMI <6th percentile for age). In a genome-wide association study from the Estonian Biobank, 881 people were classified as thin, and 3173 individuals with norm...

To read the full abstract: Lancet. 2019 Aug 17;394(10198):587–595. doi: 10.1016/S0140-6736(19)31255-3.These authors previously described that the measurement of copeptin, a peptide cleaved in the posterior pituitary from the protein precursor of vasopressin and stable in circulation, is an accurate tool to diagnose diabetes insipidus (DI; vasopressin insufficiency). However, the...

To read the full abstract: Pediatrics. 2019;143(5).This randomized prospective long-term study investigated the effect of long-term (8–10 years) versus short-term (18–24 months) methimazole therapy for Graves’ disease in 56 Iranian adolescents. The primary endpoint was disease remission at 48 months after stopping methimazole.The authors obs...

To read the full abstract: Endocr Relat Cancer. 2019; 26(1): 103–117.Incidence of adrenocortical carcinomas shows a bimodal distribution, being more common in children <10 years and in adults aged 40–50 years. Their prognosis is poor, with only 10–25% 5-year survival. Ectopic expression of LHCGR and GNRHR has been reported in ACTH-independent adrenal hyperplasia ...

To read the full abstract: Development 2017;144:3278-3288This article from Plazek’s laboratory describes a subpopulation of cells which express Fgf10 that are the precursors of the posterior pituitary gland. Importantly, these Fgf10 positive cells migrate rostrally to form the anterior hypothalamic region, but also migrate caudally to form the mammillary hypothalamic region. Cell lineage traci...

To read the full abstract: Sci Rep 2017;7:10722This paper elegantly describes how precise quantification of ingested radioactive iodine in the Japanese population was measured after the Fukushima catastrophe. The mainstay of such a detailed analysis by the Ministry of Health, Labor and Welfare was the sequential quantification and documentation of all sources of radioactive iodine in...

To read the full abstract: Diabetes Care. 2017;40:1249-1255Children and adolescents who present in ketoacidosis at manifestation of the disease might represent a subgroup of patients that may have less resilience factors in their families, less adherence to medical advice, might be less attentive to medical symptoms and might be less knowledgeable of medical issues. In addition, they may carry biolog...