Somatic GNAS mutation causes widespread and diffuse pituitary disease in acromegalic patients with McCune-Albright syndrome.

ABSTRACT:

Context

McCune-Albright syndrome (MAS) is caused by sporadic mutations of the GNAS. Patients exhibit features of acromegaly. In most patients, GH-secreting pituitary adenomas have been held responsible for this presentation. However, surgical adenomectomy rarely eliminates excess GH production.

Objective

The aim of this study was to elucidate pituitary pathology in patients with MAS and to explain the basis of failure of adenomectomy to eliminate GH hypersecretion.

Design and setting

We conducted a case series at the National Institutes of Health.

Intervention(s)

Interventions included medical therapy and transsphenoidal surgery.

Patients and main outcome measures

We studied clinical and imaging features and the histology and molecular features of the pi

SUBMITTER: Vortmeyer AO 

PROVIDER: S-EPMC3791436 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature