ESPE Yearbook of Paediatric Endocrinology

Brief summary: PTEN hamartoma tumor syndrome is one of five well known genetic syndromes associated with differentiated thyroid carcinoma (1,2). PTEN hamartoma tumor syndrome comprises four different entities: Cowdwn syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome caused by mutations in the PTEN (phosphatase and tensin homologue) tumor suppressor gene [3]. This prospective longitudinal mu...

To read the full abstract: N Engl J Med 2018;379:2131–2139.The authors reviewed data on 1519 patients referred to the Undiagnosed Diseases Network (UDN), a US NIH funded network linking seven clinical sites. 53% of patients were female and their symptoms were neurologic (40%), musculoskeletal (10%), immunological (7%), gastrointestinal (7%), or rheumatological (6%). Of the 38...