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Jang, Kang, Jung, Kim, Kim, Lee, Moon, Cha, Lee, Son, and Kang: A Case of Atypical McCune-Albright Syndrome Associated with Hyperthyroidism
Case Report
Journal of Korean Society of Endocrinology

Journal of Korean Society of Endocrinology 2006; 21(2): 158-164.

Published online: 20 April 2006

DOI: https://doi.org/10.3803/jkes.2006.21.2.158

A Case of Atypical McCune-Albright Syndrome Associated with Hyperthyroidism

Yi-Sun Jang, Seok-Hui Kang, Woong-Ryoung Jung, Woo-Tae Kim, Hye-Soo Kim, Jong-Min Lee, Sung-Dae Moon, Bong-Yun Cha, Kwang-Woo Lee, Ho-Young Son, Sung-Koo Kang

Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Korea.

Received 4 November 2005       Accepted 29 December 2005

Copyright © 2006 Korean Endocrine Society

Abstract

McCune-Albright syndrome (MAS) is a sporadic disease that's characterized by polyostotic fibrous dysplasia, cafe-au-lait pigmentation of the skin, and multiple endocrinopathies, including sexual precocity, hyperthyroidism, acromegaly, and hypercortisolism. Recent evidence has shown that the clinical manifestations are caused by a postzygotic activating missense mutation in the gene coding for the α-subunit of Gs protein that stimulates c-AMP formation in the affected tissues. Substitution of the Arg201 residue in Gsα with cysteine or histidine have been identified in many MAS patients and Arg201 to Gly or Leu mutations have also been recently identified. We identified the Arg201 to His mutation in the gene encoding Gsα in the thyroid tissue from a 36-year-old man who was suffering with polyostotic fibrous dysplasia and hyperthyroidism.

Keywords: Arg201, Gs protein, McCune-Albright syndrome

Figures and Tables

Fig. 1
Simple X-ray. A, Chest X-ray: There is a clavicular fracture of right. B, Skull: There is a diffuse thickening of occipital bone. C, Left humerus: There is a osteolytic lesion and cortical bone thinning of mid-portion.
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Fig. 2
A, Brain CT: Multifocal mixed lytic or sclerotic lesions of the skull base are shown. B, Lumbar spine MRI: Compression fracture is seen in the lumbar spine.
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Fig. 3
Bone scan. It shows increased bony uptakes at occipital bone, low cervical spine, left first, third, eighth, eleventh ribs, and right fifth rib, left scapula, left humerus, left elbow, left carpal bones and fingers. Also there are suspicious small foci of increased uptakes at thoracic and lumbar spines.
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Fig. 4
Thyroid scan. There are enlarged left lobe and irregular areas of photon deficiency in right lobe.
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Fig. 5
Thyroid sonography. A 5.8 cm×4.2 cm×2.2 cm sized well-defined hyperechoic mass with internal cystic portion is noted in the left lobe (A). Same-natured several nodules are seen in the right lobe (B).
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Fig. 6
DNA sequence analysis. Heterozygous mutation encoding substitution Arg201 of Gsα with His from thyroid tissue was observed.
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