ESPE Yearbook of Paediatric Endocrinology

Brief summary: Congenital central hypothyroidism is caused by thyrotropin deficiency, either isolated or in combination with other pituitary deficiencies. So far, mutations in five genes have been identified in patients with isolated thyrotropin deficiency: thyroid stimulating hormone subunit β (TSHβ), thyrotropin-releasing hormone receptor (TRHR), immunoglobulin superfamily member 1 (IGSF1), transducin-like protein 1 (TBLX1), and ...

Brief summary: The potency of insulin decreases with increasing temperatures. This pilot study compared the concentration and structure of commonly used types of insulin when exposed to high temperatures for prolonged periods of time.Manufacturers are required to provide information on how insulin vials and cartridges should be kept by the patient. These recommendations assume that a working fridge is available and that the medicine can be protected from...

Lancet Diabetes Endocrinol. 2020;8:594–605. doi: 10.1016/S2213-8587(20)30153-4.Groenenweg et al. present the so far largest retrospective multicentre cohort study on 151 patients with 73 different MCT8 (SLC16A2) mutations to compare and describe in detail the phenotypic spectrum and the disease course of MCT8 deficiency. The careful description of presenting cl...

To read the full abstract: Horm Res Paediatr. 2019;92:1–14In March 2019, 46 international experts from 14 countries across 5 continents attended a 3-day workshop organized by the Growth Hormone Research Society (GRS) and produced this perspective on the diagnosis, management and therapy in children with short stature. In this context, this expert panel tackled almost all aspects related to the management of children with short stature, prov...

J Endocrinol. 2020 May;245(2):315–326. doi: 10.1530/JOE-20-0012. PMID: 32171178.As it is not possible to study the histology of the pancreas post-partum in humans, this study used a mouse model of mild glucose intolerance to assess the changes in pancreatic islets after post-partum and assess the impact of pro-inflammatory cytokines. Mice with glucose intolerance during pregnancy continue...

J Clin Endocrinol Metab. 2020; 105(9): 3103–3107.https://pubmed.ncbi.nlm.nih.gov/32629476/In this narrative review, the authors discuss the potential role of novel regenerative therapies for the treatment of adrenal insufficiency, including gene therapy and cell replacement strategies. More specifically, the authors discuss the heterogeneity in adrenal function in patients with Addison...

Lancet Glob Health 2020; 8: e1546–54. doi: 10.1016/S2214-109X(20)30388-0– Hypoglycemia is associated with increased mortality in severely sick children. WHO recommends treatment of hypoglycemia for a blood glucose < 2.5 mmol/l– The authors hypothesized that increasing the threshold for the treatment of hypoglycemia from 2.5 to 5 mmol/l would reduce all cause in-hos...

Cochrane Database Syst Rev. 2022 Mar 18;3(3):CD011027. doi: 10.1002/14651858.CD011027.pub3. PMID: 35302645.Brief Summary: This systematic review assessed the evidence for oral dextrose gel to treat hypoglycemia in newborns. Oral dextrose gel compared with placebo gel probably improved the correction of hypoglycaemic events and may result in a slight reduction in the risk of ma...

Sci Rep. 2021 Nov 3;11(1):21590. doi: 10.1038/s41598-021-00939-7. PMID: 34732776.Brief Summary: This study describes the molecular and electrophysiological analysis of the cerebral network generated from cerebral organoids from human induced pluripotent stem cells (hiPSCs) on a patient with neonatal diabetes mellitus due to a KCNJ11 mutation. Some patients w...

J Clin Endocrinol Metab. 2022 Jan 1;107(1):109-118.Abstract: https://pubmed-ncbi-nlm-nih-gov/34498693/In Brief: This study established a standard range of Inorganic Pyrophosphate (PPi) between 2.36 and 4.44 µM (5th-95th percentiles) in the blood plasma of children and adolescents aged 0 to 18 years, using the ATP sulfurylase assay. There was no sex difference and the range is similar t...