Korean J Intern Med.  2007 Mar;22(1):45-50. 10.3904/kjim.2007.22.1.45.

A Case of McCune-Albright Syndrome with Associated Multiple Endocrinopathies

• Sung SH
• Yoon HD
• Shon HS
• Kim HT
• Choi WY
• Seo CJ
• Lee JH

• KMID: 1717995
• DOI: http://doi.org/10.3904/kjim.2007.22.1.45

Abstract

McCune-Albright syndrome (MAS) is a rare disorder that develops from an activating mutation in the Gs gene. It is characterized by an association with Polyostotic fibrous dysplasia, and precocious puberty, Caf-au-lait pigmentation, and other endocrinopathies that result from the hyperactivity of a variety of endocrine glands. Recently we encountered a patient with MAS with fibrous dysplasia, skin pigmentation, acromegaly, hyperprolactinemia and a thyroid nodule. A 23-year-old male presented for an evaluation of a change in his facial structures. Fibrous dysplasia was diagnosed by a bone biopsy and radiographic studies. The GH level increased paradoxically after an oral glucose load. The plasma prolactin, IGF-1 and alkaline phosphatase were high. Thyroid ultrasonography revealed multiple nodules. The brain MRI demonstrated a mass in the left pituitary gland. Genetic analysis identified a change from Arg (CGT) at codon 201 to Cys (TGT).

Keyword

McCune-Albright syndrome; Fibrous dysplasia; GNAS1; Acromegaly

MeSH Terms

Thyroid Diseases/etiology/genetics
Puberty, Precocious/etiology/genetics
Mutation
Male
Hyperprolactinemia/etiology/genetics
Humans
GTP-Binding Protein alpha Subunits, Gs/*genetics
Fibrous Dysplasia, Polyostotic/*diagnosis/genetics/pathology
Cafe-au-Lait Spots/etiology/genetics
Adult
Acromegaly/*diagnosis/etiology