| Title | A case of McCune-Albright syndrome with associated multiple endocrinopathies. | | Author(s) | Sung SH, Yoon HD, Shon HS, Kim HT, Choi WY, Seo CJ, Lee JH | | Institution | Department of Internal Medicine, Catholic University of Daegu School of Medicine, Daegu, Korea. | | Source | Korean J Intern Med 2007 Mar; 22(1):45-50. | | 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). | | Language | eng | | Pub Type(s) | Journal Article
| | PubMed ID | 17427647 |
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