ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Diabetes Care 2017;40:1082-1089Transcription factor 7-like 2 (TCF7L2) is a protein encoded by the TCF7L2 gene located on chromosome 10q25.2-q25.3 and is involved in the development of a wide variety of cell lineages and organs. The rs7903146 <a href="https://en.wikipedia.org...

To read the full abstract: J Pediatr Endocrinol Metab 2018; 31(6):601-608This article summarizes the findings of likely the largest program of neonatal congenital hypothyroidism (CH) screening in the world. This is a truly impressive effort. The overall incidence of CH was 1/2421, in line with other reports that also observed a relatively high incidence of CH in neonates born in Asia. However, a...

To read the full abstract: Int Health 2018; 10(2):100-107This article addresses the important issue of acceptance of the congenital screening for congenital hypothyroidism (CH) by the population in general and the families in particular. While it is usually obvious for the health professional that screening for CH is beneficial to the potentially affected neonate, culture, level of education, ...

To read the full abstract: Nature 2018;555:210Up to now, it was thought that genetics would play a major role in shaping the gut flora. However, this study, in a cohort of 1,046 healthy Israeli individuals with a well-defined clinical phenotype, suggests that only 2-8% of human microbiome variability is explained by genetics, as compared to 92-98% explained by environmental influences. This...

To read the full abstract: Nature Communications 2018;9:636We know that good nutrition early in life has profound and long-lasting effects on body weight in later life. Malnutrition during pregnancy or infant formula feeding may be stored on the offspring genome as epigenetic memory and persist into adulthood, thereby influencing the susceptibility to metabolic diseases, such as obes...

To read the full report: https://www.fda.gov/NewsEventsThe report, issued by the U.S. National Toxicological Program (NTP), presents the initial results of a multimillion dollar study conducted for more than 5 years by scientists at FDA’s National Center for Toxicological Research. It looked at the effects of different doses of BPA evaluating chronic and e...

Brief summary: The sodium/iodide symporter (NIS) is the first and limiting step for thyroid hormone synthesis (1). NIS is located at the basolateral membrane of the thyroid follicular cells. NIS translocates iodide against its electrochemical gradient from the blood into the cytosol of the thyroid follicular cell by a co-transport with sodium. Besides iodide, the sodium/iodide symporter has also further substrates such as the environmental endocrine disruptor perchlorate, or s...

Brief summary: This retrospective case-control observational study assessed body composition of children with non-classic congenital adrenal hyperplasia (NCCAH) using bioelectrical impedance analysis (BIA). It showed that children with NCCAH have an imbalance between muscle and fat tissues compared with control subjects, which may place them at increased risk for early-onset cardiometabolic morbidity.Non-classic congenital adrenal hyperplasia (NCCAH) is ...

Brief summary: This single-centre retrospective study analysed gonadal function in 62 patients (41 males) with medulloblastoma, treated between 1987 and 2021. The aim of the study was to characterize gonadal function and identify risk factors for gonadal failure.Survival rates of patients with medulloblastoma have significantly improved with the combination of many therapeutic approaches, such as adjuvant chemotherapy, craniospinal irradiation (CSI), sur...

In Brief: In this US cohort study of 30,239 Black and White individuals aged >=45 years followed up for a median of 10 years, low baseline levels of HDL-Cholesterol (HDL-C) were associated with increased risk of coronary heart disease (CHD) in White (HR: 1.22; 95% CI: 1.05–1.43) but not in Black (HR: 0.94; 95% CI: 0.78–1.14) adults (P-interaction by race =0.08).Comment: The established clinical risk factors for coronary heart disea...