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Table of Contents
CASE REPORT
Year : 2012  |  Volume : 16  |  Issue : 4  |  Page : 654-656

Radioiodine treatment in McCune-Albright syndrome with hyperthyroidism


1 Department of Nuclear Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India
2 Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Date of Web Publication5-Jul-2012

Correspondence Address:
Bhagwant Rai Mittal
Department of Nuclear Medicine, PGIMER, Chandigarh - 160 012
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2230-8210.98035

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   Abstract 

McCune-Albright syndrome (MAS) is a sporadic disease characterized by polyostotic fibrous dysplasia, "café-au-lait" spots and hyperfunctional endocrinopathies. Pathophysiological basis is activating mutation of the gene that encodes the alpha subunit of Gs membrane protein that stimulates the intracellular production of cAMP, conferring autonomous secretion of the gland in particular. One of the uncommon endocrine manifestations is hyperthyroidism. We present a patient who had café-au-lait spots, polyostotic fibrous dysplasia and hyperthyroidism. She was treated with radioactive iodine for the symptoms of hyperthyroidism and subsequently relieved from hyperthyroid features.

Keywords: Fibrous dysplasia, hyperthyroidism, McCune-Albright syndrome, radioiodine


How to cite this article:
Chakraborty D, Mittal BR, Kashyap R, Manohar K, Bhattacharya A, Bhansali A. Radioiodine treatment in McCune-Albright syndrome with hyperthyroidism. Indian J Endocr Metab 2012;16:654-6

How to cite this URL:
Chakraborty D, Mittal BR, Kashyap R, Manohar K, Bhattacharya A, Bhansali A. Radioiodine treatment in McCune-Albright syndrome with hyperthyroidism. Indian J Endocr Metab [serial online] 2012 [cited 2020 Feb 18];16:654-6. Available from: http://www.ijem.in/text.asp?2012/16/4/654/98035


   Introduction Top


 McCune-Albright syndrome More Details (MAS) is a rare sporadic disorder with an estimated prevalence between 1/100,000 and 1/1,000,000, [1] characterized by the triad of polyostotic fibrous dysplasia (FD), café-au-lait maculae and hyperfunctional endocrinopathies. [2],[3] Hyperfunctioning endocrinopathies include hypercortisolism, hypersomatotropism, hypophosphatemic rickets and hyperthyroidism. The association of hyperthyroidism with polyostotic FD is uncommon. [4] We report another rare case who had FD and precocious puberty with hyperthyroidism and was treated with radioiodine, adding to the existing literature [5] that documents only six instances of radioablation in MAS.


   Case Report Top


A 7-year-old female child presented with precocious menstruation, café-au-lait spots and breast development since last 2 years. She had complaints of sweating, palpitation, heat intolerance. No family history of such disorder was found. On examination, apart from café-au-lait spots, prominent breasts and mild facial asymmetry, she had raised pulse rate of 110/min and diffuse enlargement of both lobes of the thyroid gland. There was no history of headache or loss of vision. On investigation, serum biochemistry and hemogram were within normal limits. Thyroid function tests showed the following results: T3: 221 ng/dl (normal 60-181 ng/dl); T4: 7.9 μg/dl (normal 4.5-12.6 μg/dl) and thyroid stimulating hormone (TSH): 0.12 μIU/ml. TSH at the time of radioiodine treatment was 0.01 μIU/ml. Thyoird microsomal antibody (TMA) was negative. Serum prolactin was 44.91 ng/ml (normal 4.79-23.3 ng/ml), testosterone 43.65 pg/ml (normal 12.5-166 pg/ml), luteinizing hormone (LH) ≤0.07 μIU/ml (normal 0.1-6 μIU/ml), follicle stimulating hormone (FSH) ?0.1?mIU/ml ≤0.1 mIU/ml (normal 3.5-12.4), estradiol 43.65 pg/ml (normal 12.5-16.6 pg/ml), and parathormone (PTH) 42 pg/ml (normal 15-68 pg/ml). Growth hormone (GH) measured 4.98 ng/ml (normal up to 13 ng/ml), insulin-like growth factor 1 (IGF-1) was 460 ng/ml (normal 57-316 ng/ml), and serum 25(OH)2 vitamin D3 level was 48.54 nmol/l (normal 47-144 nmol/l). Serum cortisol at 0800 hours was 569 nmol/l (normal 171-536 nmol/l) and adrenocorticotropic hormone (ACTH; taken at the same time) was <1.35 pg/ml. X-ray showed multiple ground glass opacities with lytic and sclerotic areas in long bones and skull bones [Figure 1]. Ultrasonography (USG) of the abdomen revealed left-sided ovarian cyst. Computed tomography (CT) of the abdomen revealed mesenteric lymphadenopathy, with no abnormality in adrenal glands. Magnetic resonance imaging (MRI) showed altered signal intensity lesion expanding the sphenoid bone, bilateral frontal and left maxilla with normal pituitary gland. Tc99m-Methylene Diphosphonate (MDP) bone scan revealed intensely increased tracer uptake in the frontal bone, left maxilla, left side of mandible, left humerus, radius, shaft of both femur and tibia [Figure 1]. Radioactive iodine-131 uptake (RAIU) by the thyroid gland at 24 hours was 44.3% and Tc99m-pertechnetate scan revealed diffusely enlarged thyroid gland with increased trapping function [Figure 2]. She was treated with 5 mCi of radioiodine (empirical dose) along with Inj. Zoledronic acid, Depoprovera and tab. letrozole. On follow-up at 3 months, the patient improved symptomatically and the thyroid function tests were within normal limit: T3: 1.74 ng/ml (normal 0.8-2 ng/ml); T4: 8.92 μg/dl (normal 4.8-12.7 μg/dl) and TSH: 2.9 μIU/ml (normal 0.27-4.2 μIU/ml).
Figure 1: Radiographs of the described patient showing expansion of the diploic space of the left greater wing of sphenoid, body of sphenoid, occiput and the left frontal bone, along with expansion of the meta-diaphyseal region and mixed lytic-sclerotic lesions in the femur and tibia on the left side, expansion of the first metacarpal on the left side, and also in the left humerus and the radius

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Figure 2: Tc99m-MDP whole body bone scan in (a) anterior and (b) posterior views showing increased osteoblastic activity in the left frontal, sphenoid, maxillary, occipital and bilateral parietal bones along with left humerus, forearm bones, femur on both sides and left tibia. Tc99m pertechnetate thyroid scan (c) of the same patient showing diffusely increased trapping in both lobes of the thyroids

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   Discussion Top


In MAS, thyroid diseases range from subclinical hyperthyroidism to frank hyperthyroidism with goiter. Sallum et al., [5] in their review and literature search, reported 85 cases of hyperthyroidism with MAS. Occult T3 toxicosis was also reported by Brogan et al. [6] MAS associated thyroidopathies are attributed to post-zygotic activating mutation of cAMP regulating protein, GNAS1 gene product Gsα, wherein arginine is replaced by another amino acid at position 201. [5],[7],[8] This leads to constitutive activation of adenylate cyclase, resulting in cAMP overproduction and consequent growth of thyrocytes and hormone hypersecretion. [9] Hyperthyroidism continues unabated as Gsα mutation is persistent. Therefore, preferable mode of treatment for MAS associated hyperthyroidism appears to be total surgical ablation or radioiodine therapy. [4] Literature review [10],[11] shows that the remission rates with antithyroid drugs even in Grave's disease are usually less than 30-40% and even lesser (~17%) in pre-pubertal children. Comparatively, 60-90% of children treated with radioiodine therapy are hypothyroid. Children aged 1 year have also been treated with radioiodine. [11],12 Besides, no case of second malignancy has been reported in the literature so far following treatment with iodine for thyrotoxicosis. Therefore, optimal therapy is either radioiodine therapy or surgery. This child did not have clinical goiter. Therefore, keeping in view the above aspects, radioiodine was advocated for this child.

Hyperthyroidism with or without goiter in the context of MAS is considered rare, but is well described. Thyroid dysfunction here is non-autoimmune. Hyperthyroidism may be initially treated medically with antithyroid drugs. Increased morbidity due to recurrent hyperthyroidism after withdrawal of antithyroid drugs and complications during surgical removal necessitate ablation with radioactive iodine, the option which is most suitable for definitive management.

 
   References Top

1.Dumitrescu CE, Collins MT. McCune-Albright syndrome. Orphanet J Rare Dis 2008;3:12.  Back to cited text no. 1
[PUBMED]  [FULLTEXT]  
2.Nielsen GP, Layeld LJ, Rosenberg AE. Neoplastic and tumor like lesions of bone. In: Silverberg SG, DeLellis RA, Frable WJ, LiVolsi VA, Wick MR, editors. Silverberg's Principles and Practice of Surgical Pathology and Cytopathology. 4 th ed., vol. 1. Philadelphia: Churchill Livingstone Elsevier; 2006. p. 740-2.  Back to cited text no. 2
    
3.Zhou J, Sun LH, Cui B, Song HD, Li XY, Ning G, et al. Genetic diagnosis of multiple affected tissues in a patient with McCune-Albright syndrome. Endocrine 2007;31:212-7.  Back to cited text no. 3
[PUBMED]    
4.Mastorakos G, Mitsiades NS, Doufas AG, Koutras DA. Hyperthyroidism in McCune-Albright syndrome with a review of thyroid abnormalities sixty years after the first report. Thyroid 1997;7:433-9.  Back to cited text no. 4
[PUBMED]    
5.Sallum AC, Leonhardt FD, Cervantes O, Abrahão M, Yazaki RK. Hyperthyroidism related to McCune-Albright syndrome: Report of two cases and review of the literature. Arq Bras Endocrinol Metabol 2008;52:556-61.  Back to cited text no. 5
    
6.Brogan P, Khadilkar VV, Stanhope R. Occult T3 toxicosis in McCune-Albright syndrome. Horm Res 1998;50:105-6.  Back to cited text no. 6
[PUBMED]    
7.Ihara C, Shimatsu A, Murabe H, Kataoka K, Kondo C, Nakao K. Growth hormone secreting pituitary adenoma associated with multiple bone cyst, skin pigmentation and aortitis syndrome. J Endocrinol Invest 1996;19:753-7.  Back to cited text no. 7
[PUBMED]    
8.Obuobie K, Mullik V, Jones C, John R, Rees AE, Davies JS, et al. McCune-Albright syndrome: Growth hormone dynamics in pregnancy. J Clin Endocrinol Metab 2001;86:2456-8.  Back to cited text no. 8
[PUBMED]  [FULLTEXT]  
9.Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 1991;325:1688-95.  Back to cited text no. 9
[PUBMED]  [FULLTEXT]  
10.Rivkees SA, Dinauer C. An optimal treatment for pediatric Graves' disease is radioiodine. J Clin Endocrinol Metab 2007;92:797-800.  Back to cited text no. 10
    
11.Rivkees SA, Sklar C, Freemark M. Clinical review 99: The management of Graves' disease in children, with special emphasis on radioiodine treatment. J Clin Endocrinol Metab 1998;83:3767-76.  Back to cited text no. 11
[PUBMED]  [FULLTEXT]  


    Figures

  [Figure 1], [Figure 2]


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