ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This population-based national register study searched for imprinting-related disorders in all liveborn singletons in Sweden (N=2,084,127) born between 1997 and 2017 with follow-up to Dec 2018. They identified 1,044 children with Beckwith-Wiedemann Syndrome (BWS), Prader-Willi Syndrome (PWS)/Silver-Russell Syndrome (SRS), or central precocious puberty (CPP), of whom 52 were conceived using ART therapy. The risk of being diagnosed with any of these disorders was ...

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...

Brief Summary: Artemisinins, compounds known for their antimalarial properties, suppress ovarian androgen synthesis by promoting degradation of cytochrome P450 11A1 (CYP11A1). Hence, they are a promising new approach for preventing and treating PCOS.Comment: Polycystic ovary syndrome (PCOS), characterized by hyperandrogenism, chronic anovulation, and insulin resistance, is one of the most common reproductive endocrinopathies, affecting ~8-18% of reproduc...