hrp0089p3-p270 | Multisystem Endocrine Disorders P3 | ESPE2018
Schulz Esther
, Klohs Stephan
, Konigs Ingo
, Maiberger Thomas
, Nissen Johanna
, Schafer Hansjorg
, Saeger Wolfgang
, Schnegg Clivia
, Mir Thomas
, Kozlik-Feldmann Rainer Gerhard
, Akkurt Ilker
Introduction: McCune–Albright syndrome (MAS) is a rare disease resulting from a somatic activating mutation of GNAS1 encoding the Gs-alfa subunit of the G-protein coupled membrane receptor responsible for multiple hormonal signaling cascades leading to the classical trias: polyostotic fibrous dysplasia, café-au-lait hyperpigmentation and GnRh independent precocious puberty. Early manifestation is accompanied with multiple organ involvement and may lead to ACTH-indepe...