ESPE Yearbook of Paediatric Endocrinology

Hum Reprod. 2020 Oct 1;35(10):2312–2322. 10.1093/humrep/deaa185. PMID: 32862222. https://academic.oup.com/humrep/article/35/10/2312/5899242In brief: This study shows that both the GnRH stimulation test and serum inhibin B have insufficient specificity to discriminate congenital hypogonadotropic hypogonadism (CHH) from c...

J Steroid Biochem Mol Biol. 2020; 200:105684.https://pubmed.ncbi.nlm.nih.gov/32360359/In this mouse cell model, the authors show that metformin appears to directly inhibit signaling of MC2R (the ACTH receptor) and also MC3R.Metformin is used to treat type 2 diabetes and obesity, and may reduce the androgen excess in women with polycystic ovary syndrome (PCOS) or conge...

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...

J Clin Endocrinol Metab. 2021 19;107(5):1346-1356. doi: 10.1210/clinem/dgab932. PMID: 34971397.Brief Summary: This is a case report of a potentially new genetic disorder that causes hyperinsulinaemic hypoglycemia, protein sensitivity and high serum ammonia level (Hyperinsulinism/hyperammonemia syndrome (HI/HA) syndrome). Mutations in the solute the carrier family 25, member 36 (SLC25A36) may b...

Proc Natl Acad Sci U S A. 2021 Nov 9;118(45):e2109721118. doi: 10.1073/pnas.2109721118. PMID: 34732576.Brief Summary: In a mouse model of KATP neonatal diabetes mellitus, this study examined the mechanisms of cognitive deficits and development delay observed in some patients with this form of diabetes. The cognitive deficits and development delay appeared to be independent of the diabetes per...

Front Cell Dev Biol. 2021 Jun 11;9:669354. doi: 10.3389/fcell.2021.669354. eCollection 2021. PMID: 34249923Brief Summary: This in vitro study analyzed the transcriptome of the developing thyroid gland in human embryonic thyroids compared to non-thyroidal human embryonic tissues and adult thyroid and adult non-thyroidal tissues. They identified four differently regulated sets of gen...

J Clin Endocrinol Metab. 2021;106(11):e4716-e4733. PMID: 34136918Brief Summary: In this study, 149 children referred for suspected GH insensitivity (GHI) and short stature underwent genetic characterization through different techniques, including whole exome sequencing, targeted gene sequencing and array comparative genomic hybridization (array-CGH). Genetic alterations were identified in 80/149 subjects (54%), of which 45 were affected by GH&#1...

Metabolism. 2022 Apr;129:155141. doi: 10.1016/j.metabol.2022.155141. Epub 2022 Jan 22. PMID: 35074314. https://www.metabolismjournal.com/article/S0026-0495(22)00019-1/fulltextBrief Summary: the authors used pharmacological and transgenic models to demonstrate the role of GRK2, G protein coupled-recept...

To read the full abstract: N Engl J Med. 2020 Feb 6;382(6):534–544. PMID: 32023373Neonatal hypoglycaemia is one of the most common biochemical findings in the newborn period and is an important cause of brain injury. However, despite being so common there is no consensus regarding the glucose threshold concentration at which treatment for asymptomatic neonatal hypoglycemia sho...

To read the full abstract: Cell 2019;177 (3):59–-607.e9. PMID 31002796.A recent GWAS showed that the heritability of thinness was comparable to that of obesity (1). Some loci showed effects across the entire BMI distribution. This is also true for variants in MC4R. The present study analyzed data on ˜0.5 million people from UK Biobank, with a focus on 61 nonsynonymous var...