Abstract

Thyroid dysfunction in patients with Down’s syndrome is well known. Hypothyroidism is the common abnormality documented. Hyperthyroidism is however, relatively rare. We report two cases of Down’s syndrome with Graves’ disease, one of whom succumbed to neutropenia and sepsis.

Highlights

  • Down’s syndrome is the most frequent genetic cause of mental retardation in men with an incidence of 1 in 750 live births [1]

  • The study group included 1832 patients registered with the Catalan Down Syndrome Foundation in Spain

  • We report two adolescent girls of Down’s syndrome with hyperthyroidism for the relative rarity of the condition and the intractable sepsis and mortality in one of them

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Summary

Introduction

Down’s syndrome is the most frequent genetic cause of mental retardation in men with an incidence of 1 in 750 live births [1]. A 14 year girl with Down’s syndrome presented to the Endocrinology OPD with a history of hyperthyroidism for the last 2 years, detected when she had symptoms of weight loss and mild proptosis. She was started on Propyltiouracil (PTU) and was on a maintenance dose of 150 mg daily at presentation. She became afebrile after 3 days and her total leucocyte count rose to 3400/mm and ESR was 90 mm. A diagnosis of Graves’ disease was made and she was started on methimazole 10 mg twice daily

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