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CASE REPORT
Year : 2012  |  Volume : 9  |  Issue : 2  |  Page : 64-67

Spectrum of thyroid hormone resistance


Department of Endocrinology and Metabolism, IPGMER and SSKM Hospital, 244, AJC Bose Road, Kolkata, India

Correspondence Address:
Sujoy Ghosh
Department of Endocrinology and Metabolism, IPGMER and SSKM Hospital, 244, AJC Bose Road, Kolkata-700 020
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0973-0354.96060

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Thyroid hormone resistance (THR) is a rare disorder with a prevalence of 1:40,000 and is commonly due to mutation in thyroid receptor β-isoform. Goiter is the most common presenting feature in patients of THR (66-95%) followed by behavioral abnormalities (60%). Severe mental retardation and short stature are uncommon. We present three patients of THR, all of whom presented with short stature and goiter. Patient-1 had attention deficit hyperkinetic disorder with severe mental retardation (IQ-52). Patient-2 presented with bleeding and non-palpable purpura and was diagnosed to have immune thrombocytopenic purpura (ITP). This is the first report of ITP in a patient of THR. Patient-3 in contrast had normal intelligence and presented with only short stature and goiter. Patients-1 and 2 had tachycardia which improved with propranolol. Propranolol can be a useful agent in the management of thyrotoxic symptoms in THR patients when thyroid hormone analogues are not available. Unlike previously reported case series of THR, short stature and goiter were the universal presenting features in our patients, probably reflecting the fact that such patients are more likely to seek medical care.


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