Searchable abstracts of presentations at key conferences in endocrinology

ea0029s40.1 | New familial endocrine cancer syndromes: pathophysiology and counselling | ICEECE2012

DICER1 mutations characterize a novel syndrome with endocrine features

Wu M. , Priest J. , Hamel N. , Sabbaghian N. , Xu B. , Tischkowitz M. , Choong C. , Deal C. , Albrecht S. , Charles A. , Goodyer P. , Foulkes W.

DICER1 is a microRNA processing-RNase III-type endoribonuclease and is crucial for embryogenesis and early development. Nearly 50 different heterozygous germ-line DICER1 mutations have been reported world-wide in individuals who developed, as children or young adults, pleuropulmonary blastoma, cystic nephroma, ovarian sex cord stromal tumors (especially Sertoli–Leydig cell tumor), multi-nodular goiter, embryonal rhabdomyosarcoma (of cervix and other typical sites), Wilms ...

ea0029s5.1 | Transition from paediatric to adult care - do we have progress? | ICEECE2012

GH use in Prader–Willi syndrome (PWS): an evidence-based approach to a clinical practice guideline (CPG), on behalf of the GH Research Society (GRS) and Workshop Participants

Deal C.

GH therapy in children with PWS was approved in the US in 2000, based on short term growth data, and in Europe in 2006, based on growth and body composition data. GH therapy in PWS has been used by the medical community and advocated by parental support groups since this time. The advent of GH therapy for individuals with PWS represents a unique therapeutic challenge with its intersection of GH treatment for individuals with cognitive disability, varied therapeutic goals that ...