ESPE Yearbook of Paediatric Endocrinology

Nat Commun. 2021 Jan 11;12(1):256. doi: 10.1038/s41467-020-20511-7. PMID: 33431871.These authors report two Mll4 mutant mouse models that exhibited dwarfism and altered development of GHRH−neurons.Inactivating mutations in KDM6A (aka UTX) or KMT2D (aka MLL4) genes result in Kabuki syndrome (KS), whose hallmarks in...

J Biochem. 2020 Sep 1;168(3):305-312. doi: doi: 10.1093/jb/mvaa050. PMID: 32302394.This study shows that mice mitochondrial regulatory gene Mitol-deficient mice display reduced growth in combination with anterior pituitary hypoplasia and reduced growth hormone levels.MITOL encodes a ubiquitin ligase. Ablation of Mitol in nestin-expressing cells ...

Nat Hum Behav. 2022;6(1):43-54. doi: 10.1038/s41562-021-01196-4.PubMed ID: 34504299Brief summary: This study analysed a large database of emails, calendars, instant messages, video/audio calls and workweek hours routinely generated by 61 182 US Microsoft employees in the months before and after 4th March 2020, when the company mandated that all non-essential employees change to full-time w...

To read the full abstract: J Pediatr Endocrinol Metab. 2017;30:869-877Several previous studies had focused on the early risk of metabolic syndrome or its components in survivors of childhood acute lymphoblastic leukaemia (ALL), while fewer data are available on pubertal development in these subjects. The merit of this study was to carefully investigate growth and pubertal development in a large ...

To read the full abstract: Lancet Diabetes Endocrinol 2017; 5:853-63 This prospective, randomized trial investigates the benefits of iodine supplementation (200 mcg per day) in pregnant women from Thailand and India on the neurological development of their children. Iodine readily crosses the placenta and is required for the synthesis of thyroid hormones by the fetal thyroid gland. In add...

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...

Brief Summary: For both clinicians and patients, it is of great interest to have easily-applicable predictors to forecast weight reductions achievable by lifestyle intervention (LI). This study identified 3 distinct clusters of responses to paediatric outpatient LI. Up to 2 years after LI initiation, responses ranged from ‘pronounced BMIz loss’ (in 19% of patients; median delta-BMIz: -0.61 (IQR: -0.76 to -0.49) to ‘moderate BMIz loss’ (in 45%; -0.23 (-0.33 ...

Brief Summary: This process study describes the adaptation of previously established clinical practice guidelines for hyperthyroidism to better suit the local healthcare context in Pakistan. Adaptation utilized the GRADE-ADOLOPMENT method.Hyperthyroidism is more prevalent in Pakistan (2.9%) than in the US and Europe. Pakistan faces unique challenges due to its diverse geography, dietary habits, and healthcare financing issues. Local guidelines are needed...

J Clin Endocrinol Metab. 2020; 105(8):dgaa340.https://pubmed.ncbi.nlm.nih.gov/32497228/Here, the authors investigated whether prenatal treatment with dexamethasone (DEX) in the first trimester is associated with alterations of brain morphology on MRI scans. Observed MRI alterations were not linked to any alterations in cognitive function or mood, but were associated with DNA methylation in ...

J Clin Endocrinol Metab. 2020;105(7): e2439-48.https://pubmed.ncbi.nlm.nih.gov/32433752/Here, the authors investigated the effects of dexamethasone (DEX) on metabolism in individuals without CAH but treated with DEX during the first trimester of fetal life. Prenatal DEX exposure was associated with decreased beta-cell function and higher cholesterol concentrations.Pre...