ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Bone Miner Res 2018;33(7):1260-1271Osteogenesis imperfecta (OI) is characterized by early-onset skeletal fragility, often short stature, blue sclerae and some other features. OI is caused by mutations in the two genes encoding type I collagen, namely COL1A1 and COL1A2. Some previous reports have indicated that when the mutation involves the C-propeptide cleavage site in e...

Brief summary: This study aimed to decipher the pathophysiology of the lower prevalence of diabetic retinopathy observed among youth with T2D who also have severe obesity. None of the several biomarkers assessed was found to be associated with the obesity paradox. The biomarkers included: inflammatory factors, acute phase reactants or cytokines (VEGF, hsCRP, ICAM-1, VCAM-1, homocysteine, adiponectin, E-selectin, MCP-1, TNF-α, IL-6, fibrinogen, and ApoB).<p class="abst...

mirwig@bidmc.harvard.edu Int J Obes (Lond). 2021 Dec;45(12):2562–2569. doi: 10.1038/s41366-021-00935-x. Epub 2021 Aug 16. PMID: 34400797. https://pubmed.ncbi.nlm.nih.gov/34400797/Brief Summary: This retrospective chart review of 470 ethnically diverse transgender and gender diverse in...

To read the full abstract: J Psychosom Res. 2017 Oct;101:122-127The results of this study clearly show individuals with a DSD condition have psychological difficulties, and not only in countries with a less well developed health care systems, as reported by Khorashad et al. 2018. The findings indicate that having a DSD may impose a type of stress and vulnerability that is more common t...

Obesity (Silver Spring) 2020 Aug;28(8):1512–1518. https://pubmed.ncbi.nlm.nih.gov/32935936/These authors analysed a cohort of n=399 overweight and obese children (age 2–12 years), who underwent a 1-year lifestyle intervention, to test whether possible alternatives to the BMI z-score (%BMIp95, %BMIp50, BMImz) might correlate better with changes in % total body fat (%BF) a...

Int J Obes (Lond). 2020 May;44(5):1185–1190. https://pubmed.ncbi.nlm.nih.gov/31776435/These authors investigated the effect of maternal and paternal obesity on gene expression level in the mouse blastocyst. Firstly, they show that female and male offspring were differentially sensitive to an obesogenic maternal environment in the early phase of preimplantation. Male blastocysts from o...

To read the full abstract: Proc Natl Acad Sci USA. 2018; 115(51): 12997–13002.Humans are constantly challenged by multiple stressors, to which the body’s response and adaptation are essential. The adrenal gland plays a major role in the response to both physiological challenges and stress. Maintenance of the adrenal is partly accomplished by proliferation and differentiat...

To read the full abstract: Nat Commun 2018;9.400Pheromones play a crucial role to identify potential mates and sexual motivation in mice. These molecules are detected by a specialized circuit which initiates in the nasal septum and then relies on GnRH neurons in the hypothalamus in a sex-dependent manner. Female pheromones induce LH/testosterone release in male mice whereas male pheromones i...

J Clin Res Pediatr Endocrinol 2020 Dec 30.doi: 10.4274/jcrpe.galenos.2020.2020.0216– The characteristics of 44 patients with 46,XX congenital adrenal hyperplasia (CAH) who were raised as males were described– 15/44 (34%) were diagnosed before 2 years of age– The median final height was 149.2 (range 133–172) cmThis paper discusses an important ...

To read the full abstract: Lancet Respir Med. 2018 Mar 15. pii: S2213-2600(18)30058-4Inhaled corticosteroids (ICS) are recommended for adults and children with asthma, as well as for chronic obstructive pulmonary disease (COPD). Although ICS are generally well-tolerated and have fewer systemic adverse effects than oral corticosteroids, some patients still develop systemic adverse effects....