A Case of McCure-Albright Syndrome.

Kim, Sung Han

Case Report

Korean Journal of Obstetrics & Gynecology 1997;40(3):681-686.
Published online January 1, 2001.

A Case of McCure-Albright Syndrome.

Sung Han Kim

Department of Obstetrics and Gynecology, Phohang St.Mary's Hospital, Pholang, Korea.

Abstract

The McCune-Albright syndrome is characterized by the triad of localized bone lesions, termed polyostotic fibrous dysplasia, cafe-au-lait pigmentation of the skin, LHRH-independent sexual precocity, and autonomous hyperfunction of multiple endocrine systems. A somatic activating point mutation in the gene for the alpha-subunit of the G-protein in the affected has been claimed to be the underlying defect. The authors report a 13-year-old girl patient showing facial deformity due to polyostotic fibrous dysplasia of the left frontal and sphenoid bones, LHRH-independent sexual precocity, cafe-au-lait skin pigmentation of the left lateral surface of the upper humerus with literature review.

Key Words: McCune-Albright syndrom, G-protein, Somatic activating point mutation