Searchable abstracts of presentations at key conferences in endocrinology

ea0025p336 | Thyroid | SFEBES2011

Variation in levels of skewed X chromosome inactivation represents a shared pathogenic pathway for the common autoimmune thyroid diseases

Simmonds Matthew , Brand Oliver , Newby Paul , Jackson Laura , Hargreaves Chantal , Carr-Smith Jackie , Franklyn Jayne , Gough Stephen

GravesÂ’ disease (GD) and HashimotosÂ’ thyroiditis (HT), two of the most common autoimmune thyroid diseases (AITD), are caused by both shared and disease specific genetic determinants. In females one copy of the X chromosome is randomly inactivated, and although inactivation should occur with a parent of origin ratio of 50:50, skewed X chromosome inactivation (XCI) can occur, whereby >80% of a specific copy of the X chromosome is inactivated. Increased skewed XCI i...

ea0021oc5.7 | Steroids and thyroid | SFEBES2009

X chromosome inactivation: the key to the female preponderance in Graves' disease?

Simmonds Matthew , Newby Paul , Jackson Laura , Hargreaves Chantal , Brand Oliver , Carr-Smith Jackie , Franklyn Jayne , Gough Stephen

GravesÂ’ disease (GD) affects >2% of the population and occurs more frequently in females than males. Several hypotheses have been put forward to explain the female preponderance including increased immune responsiveness, gonadal steriods, sex chromosome susceptibility loci and, more recently, skewed X inactivation (XCI). XCI occurs in females causing one of their X chromosomes to be randomly inactivated enabling dosage compensation with males who only have one copy of...