ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: JAMA Pediatr 2019; 173(5):493–494.This double-blind, randomized controlled trial, in 345 US women who smoked cigarettes during pregnancy, showed that high (4 mg/day) versus standard dose (0.8 mg/day) folic acid increased mean birth weight by 140 grams, had a 31% lower risk of having a SGA baby, and a 35% lower risk of fetal growt...

To read the full abstract: Lancet 2018; 391(10133):1927-1938See comment on 13.7...

To read the full abstract: Proc Natl Acad Sci U S A. 2018; 115(17): E4091-E4100The hypothalamic-pituitary-adrenal axis is a critical neurohormonal network that regulates homeostasis and coordinates the stress response. Glucocorticoids (GCs) are critical for life and are key regulators of cognitive, metabolic and immunologic homeostasis (4). Clinical studies in healthy human subjects, usi...

To read the full abstract: J Clin Endocrinol Metab. 2018;103(4):1330-1341Glucocorticoids exert an inverted U-shaped influence on human cognition, particularly on acquiring and consolidating memory (25), whereas androgens have an overall beneficial effect on cognitive control, verbal memory, and spatial cognition in humans (26). Although previous studies in patients with CAH have con...

In Brief: The authors use cell-tracing of Axin2-positive chondroprogenitor cells in the resting zone during and after food restriction to demonstrate that nutrient availability influences the balance between accumulation and differentiation of resting zone chondrocytes and that this is influenced by Igf-1.Commentary: Catch-up growth is the rapid growth that occurs after growth-inhibiting conditions have been cured or removed. The molecular mechanism for ...

Brief summary: This study evaluated the ability of genetic risk scores to predict severe obesity in adult survivors of childhood cancer. Data from 2548 survivors of European ancestry from the St. Jude Lifetime Cohort Study was analyzed and findings were validated in 6064 survivors from the Childhood Cancer Survivor Study. Survivors with higher genetic risk scores had significantly higher odds of severe obesity. Adding genetic risk scores to prediction models that included canc...

To read the full abstract: Pediatr Diabetes. 2018 May;19(3):388-392Mutations in FOXP3 are associated with a severe, early-onset, autoimmunity syndrome known in males known as IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked; OMIM [Online Mendelian Inheritance in Man] 304930). The gene maps to chromosome Xp11.23 and encodes a 431–amino acid protein, also named &#8216...

To read the full abstract: PLoS One. 2018;13:e0191360Up to now most studies to prevent autoimmune T1DM have focused on directly suppressing the autoimmune response rather than to better understanding the intrinsic requirements for beta cell survival. In this trial intracellular heparan sulfate was investigated as an essential requirement for the survival of beta cells and a marker for beta...

To read the full abstract: Lancet 2018; 391(10133):1939-1952See comment on 13.7...

N Engl J Med. 2021;385(17):1581-92. doi: 10.1056/NEJMoa2103329.PubMed ID: 34614324Brief Summary: The authors performed whole exome sequencing in 2548 children with severe obesity and identified 22 GNAS mutation carriers, almost all of which disrupted melanocortin 4 receptor (MC4R) signaling.The gene GNAS encodes the stimulatory G-protein alpha subunit pr...