ESPE Yearbook of Paediatric Endocrinology

Nat Med. 2021 Nov;27(11):1928-1940. doi: 10.1038/s41591-021-01502-7. PMID: 34663987.Brief Summary: This clinical study characterised the spectrum of novel diabetes phenotypes due to mutations in the Transcription factor One Cut Homeobox 1 (ONECUT1)/hepatocyte nuclear factor 6 (HNF6). The study uncovers novel forms of diabetes mellitus due to mutations in ONECUT1.<p cl...

To read the full abstract: Diabetes Care. 2017;40:1631-1640[Comments on 10.9 and 10.10] These two publications describe guidelines made by the international learned societies on the use of continuous glucose monitoring devices. It is important to learn from these publications that education and guidance are pivotal before continuous glucose...

Brief Summary: This study suggests that excessive interferon-γ–mediated responses have a pathogenic role in APS-1 and provides the foundation for therapies that affect interferon-γ–mediated disease.Commentary: Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED), is an autosomal recessive multiorgan syndrome caused by loss-of-function variants in ...