Searchable abstracts of presentations at key conferences in endocrinology

ea0029s11.3 | Novel genetic and endocrine insights in the Klinefelter's syndrome | ICEECE2012

The Muenster EXAKT project: epigenetic regulation of the supernumerary X chromosome and its escapee genes

Gromoll J. , Bongers R. , Werler S. , Kliesch S. , Zitzmann M. , Tuettelmann F.

Klinefelter syndrome (47,XXY; KS) is a very common chromosomal disorder, affecting 1:500 men and leading to hypergonadotropic hypogonadism as well as an increased incidence of metabolic syndrome. However, our knowledge on the functional role of the supernumerary X chromosome itself and to which extent its origin contributes to the observed pathophysiology is still very limited. Recently we started the EXAKT (Epigenetics, X-Chromosomal features and clinical Applications in Klin...

ea0029oc14.5 | Male Reproduction | ICEECE2012

The muenster EXAKT project: X-inactivation in klinefelter patients

Werler S. , Bongers R. , Tuettelmann F. , Zitzmann M. , Kliesch S. , Gromoll J.

Introduction: Klinefelter Syndrome (KS; 47,XXY) is the most common sex chromosome disorder in men, characterized by hypergonadotropic hypogonadism. EXAKT (Epigenetics, X-chromosomal features and clinical Applications in Klinefelter syndrome Trial) is a Muenster-based prospective project involving Klinefelter patients and their parents assessing a wide area of cardiovascular, inflammatory and metabolic factors as well as a broad range of genetic and epigenetic investigations es...