ESPE Yearbook of Paediatric Endocrinology

Brief summary: This study analyzed cross-sectional data on almost 5,000 adolescents from the Adolescent Brain Cognitive Development (ABCD) cohort data (https://abcdstudy.org/), including resting state functional MRI, structural MRI and neurocognitive task scores. Excess BMI in young adolescents was associated with profound aberrant topological alterations in maturating functional circuits, as well as with underdeveloped brain structures that may adversely impact cogni...

To read the full abstract: Diabetes Care 2018;41:1089-1096These findings show that a 1-SD increase in childhood BMI was associated with a 47–83% increased relative risk of T2DM and a 28% increased relative risk of CAD in adult life, yet childhood BMI was not associated with adult chronic kidney disease. This is the first study to examine the causal relationship between childhood BMI and cardio-...

Am J Hum Genet. 2021 Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. PMID: 34270938.Brief Summary: This study reports splice-disruptive variants in POU1F1 in 4 families with hypopituitarism and uses a high-throughput splicing reporter assay to create a comprehensive catalogue of such variants in or near exon 2 of the gene. The catalogue paves the way for identifying synon...