ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Thyroid. 2020;30:277–289.GLIS3 gene mutations are associated with a syndrome that combines neonatal diabetes and congenital hypothyroidism due to thyroid dysgenesis [1]. Glis3 knockout mouse models showed functional deficits of thyroid hormone synthesis but were not able to shed light on the role of Glis3 during thyroid organogenesis resulting in thyroid dysgenesis. Rurale et al.</em...

To read the full abstract: J Bone Miner Res. 2019 Dec;34(12):2198–2204.In brief: In Osteogenesis imperfecta (OI), intravenous (IV) cyclical bisphosphonates are often discontinued after cessation of growth in adolescents. This study showed that, four years after discontinuation of treatment, none of the patients sustained new vertebral compression fractures, and the proportion ...

To read the full abstract: Diabetes Care 2020;43(1):187–95. doi: 10.2337/dc19-0708Short summary: Over 5 years follow-up, bariatric surgery compared with medical treatment resulted in dramatic attenuation of diabetic kidney disease (DKD) in adolescents with T2DM and severe obesity, beyond the impact of improved glycaemic control and weight loss.Comment</em...

To read the full abstract: Curr Biol 2019;29:813–822 e4.In vertebrates, puberty is the critical transitional step which leads to major somatic changes and the acquisition of the reproduction function. At the molecular level, puberty equates to the reactivation of the gonadotropic axis after a period of childhood quiescence, and hence increases sex steroid production. This reactivati...

To read the full abstract: Trends Endocrinol Metab. 2018; 29(10):675–685This paper comprehensively reviews current knowledge on epigenetic mechanisms in adipose tissue that may account for transgenerational dysregulation of adipocyte formation and adipose tissue function.There is increasing evidence that adult-onset disorders, including obesity, may derive fro...

Lancet Diabetes Endocrinol 2019 Published Online March 13, 2019. DOI: 10.1016/S2213-8587(19)30083-X• Practical challenges associated with diabetes care in humanitarian contexts in low- and middle- income countries abound.• In this position paper, the authors articulate the important needs around diabetes care in the context of the 6 building blocks ...

To read the full abstract: Pharm Res. 2018 Dec 5;36(1):21.Smectite purified from bentonite clay, and laponite SD-LAP, a synthetic Smectite were fed to rodents on a high-fat diet. Over a two-week period both the engineered clay and orlistat had weight loss effects.The unanticipated discovery that clay has a unique ability to “soak up” fat droplets in the g...

To read the full abstract: Nat Rev Endocrinol 2017;13:588-598Central hypothyroidism has received much interest in recent years, partly due to the discovery of new causal gene mutations. This is a comprehensive review on several aspects of central hypothyroidism. It discusses prevalence, and its variation between different countries; pitfalls in diagnosis, including assay interference; concurrent...

To read the full abstract: J Clin Endocrinol Metab 2018;103:158-168Defects at the GNAS locus give rise to various phenotypes, several of which are associated with subcutaneous ossifications (SCOs), which cause significant morbidity among the affected individuals. A subgroup of patients with paternally inherited GNAS mutations have progressive osseous heteroplasia (POH), characterized by severe he...

Brief summary: This study investigated adipose tissue cellularity and functionality in more than 400 individuals with early-onset obesity (before the age of 18 years) versus late-onset of obesity (after the age of 18 years) compared to never-obese subjects. Individuals with obesity had increased subcutaneous white adipose tissue amounts resulting from a combination of increased size and numbers of fat cells.Interestingly, individuals with early-onset obe...