ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Am J Hum Genet. 2020, Jan 2; 106: 121-8. doi: https://www.cell.com/ajhg/pdf/S0002-9297(19)30468-9.pdfProtein phosphatase 1, regulatory subunit 12a (PPP1R12A) is an important developmental factor involved in cell migration, adhesion, and morphogenesis. It is involved in the formation of myosin phosphatase and is regulated by phosphorylation.<p cla...

To read the full abstract: Annals of Human Biology vol. 47,1 (2020): 18–24. doi: https://www.tandfonline.com/doi/full/10.1080/03014460.2020.1715476This cohort study identifies an association between pubertal timing in females and educational attainment as well as risk-taking behaviours in a Brazilian population during economic transition. <p class=...

To read the full abstract: Am J Epidemiol 2017;185:1255-1262Vitamin D and adequate dietary calcium intake are important for skeletal health and therefore it was expected that vitamin D concentration would be associated with increased fracture risk. However, here, the authors did not find any statistically significant association between concurrent 25(OH)D concentration and fracture risk. In addition...

To read the full abstract: Curr Opin Pediatr. 2017 Aug;29(4):475-480This is one of several editorials and position papers that has been published during the past year. It originates from the North American Pediatric Endocrine Society and its special interest group for transgender health. This article is of value for pediatricians dealing with any aspect of transgender health in children an...

To read the full abstract: J Bone Miner Res. 2019;34(12):2171–2182.In brief: The effect of RANKL inhibition on fibrous dysplasia development is explored here using a mouse model of a fibrous dysplasia-like disorder. Anti-mouse RANKL monoclonal antibody treatment prevented the development and growth of lesions. However, after discontinuation of anti-mouse ...

To read the full abstract: Proc Natl Acad Sci U S A. 2017; 114(31): E6466-E6474Cortisol production is tightly regulated in a dynamic way within the hypothalamic-pituitary adrenal system, which seems further embedded in a wider steroidogenic regulatory network (SRN). Normally, the connection from ACTH to cortisol production is in line with the HPA axis, but there are stressful events, in which t...

To read the full abstract: Am J Clin Nutr. 2019;109:1154–1163.Early life nutrition has long-term effects on body composition and obesity risk. Breastfed infants have a lower risk of obesity, which may be related to the lower protein intake in human milk compared to infant formula. Recent studies have confirmed the association between high-protein intake during the first years of lif...

J Clin Endocrinol Metab. 2020;105(2):dgaa465. doi: 10.1210/clinem/dgaa465. PMID: 32685970This study aimed to identify potential (epi)genetic causes of short stature in 20 SGA children (13 boys; 7 girls) treated with rhGH. Exome sequencing, single-nucleotide polymorphism (SNP) array (both performed in the whole cohort) and genome-wide methylation analysis (performed in a random subset of 10 ...

kuzawa@northwestern.edu Int J Obes (Lond). 2022 May;46(5):1044–1050. doi: 10.1038/s41366-022-01065-8. Epub 2022 Feb 8. https://pubmed.ncbi.nlm.nih.gov/35136192/Brief Summary: This cross-sectional study measured total cerebral blood flow (TCBF) by MRI in 82 healthy individuals (ages 0&#...

To read the full abstract: Mod Rheumatol. 2019 May; 29 (3):447In recent years, attention has been increasing on the ovarian reserve in juvenile rheumatic diseases (1–4). Premature ovarian failure is described in 3.5–7.5% of juvenile idiopathic arthritis (JIA) patients, mainly in older subjects (mean age 35 years) and in patients treated with chlorambucil for amyloidosis (5&#150...