KMID : 0338420070220010045
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The Korean Journal of Internal Medicine 2007 Volume.22 No. 1 p.45 ~ p.50
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A Case of McCune-Albright Syndrome with Associated Multiple Endocrinopathies
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Sung Sang-Hun
Yoon Hyun-Dae Sohn Ho-Sang Kim Hong-Tae Choi Woo-Young Seo Chang-Jin Lee Joo-Hyoung
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Abstract
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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).
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KEYWORD
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McCune-Albright Syndrome, Fibrous dysplasia, GNA1, Acromegaly
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