Korean J Obstet Gynecol.  1997 Mar;40(3):681-686.

A Case of McCure-Albright Syndrome

• Kim SH

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.

Keyword

McCune-Albright syndrom; G-protein; Somatic activating point mutation

MeSH Terms

Adolescent
Congenital Abnormalities
Endocrine System
Female
Fibrous Dysplasia, Polyostotic
GTP-Binding Proteins
Humans
Humerus
Pigmentation
Point Mutation
Skin
Skin Pigmentation
Sphenoid Bone
GTP-Binding Proteins