ESPE Yearbook of Paediatric Endocrinology

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-...

Brief Summary:This study reveals how castration resistant prostate cancers (CRPC) can produce androgens and become resistant to the inhibitor of androgen production abiraterone. The authors uncover dual phosphorylated-SREBF1 as a sensor of androgen deficiency. Its nuclear translocation and deposition of H2A-K130ac epigenetic marks activates a distinct transcription program that includes SREBF1. This will then lead to intratumoral cholesterol and androgen biosynthesis, liberati...

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...