A Case of McCune-Albright Syndrome with Associated Multiple Endocrinopathies.
10.3904/kjim.2007.22.1.45
- Author:
Sang Hun SUNG
1
;
Hyun Dae YOON
;
Ho Sang SHON
;
Hong Tae KIM
;
Woo Young CHOI
;
Chang Jin SEO
;
Joo Hyoung LEE
Author Information
1. Department of Internal Medicine, Catholic University of Daegu School of Medicine, Daegu, Korea. hdyoon@cu.ac.kr
- Publication Type:Case Report
- Keywords:
McCune-Albright syndrome;
Fibrous dysplasia;
GNAS1;
Acromegaly
- MeSH:
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
- From:The Korean Journal of Internal Medicine
2007;22(1):45-50
- CountryRepublic of Korea
- Language:English
-
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).
