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Characterization of gsp -Mediated Growth Hormone Excess in the Context of McCune-Albright Syndrome

2002; Oxford University Press; Volume: 87; Issue: 11 Linguagem: Inglês

10.1210/jc.2001-012022

1945-7197

Sunday O. Akintoye, Caroline Chebli, Susan Booher, Penelope Feuillan, Harvey Kushner, Derek LeRoith, Natasha Cherman, Paolo Bianco, Shlomo Wientroub, Pamela Gehron Robey, Michael T. Collins,

interferon and immune responses

McCune-Albright syndrome (MAS) is a disorder characterized by the triad of café-au-lait skin pigmentation, polyostotic fibrous dysplasia of bone, and hyperfunctioning endocrinopathies, including GH excess. The molecular etiology of the disease is postzygotic activating mutations of the GNAS1 gene product, Gsα. The term gsp oncogene has been assigned to these mutations due to their association with certain neoplasms. The aim of this study was to estimate the prevalence of GH excess in MAS, characterize the clinical and endocrine manifestations, and describe the response to treatment.