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Down's Syndrome, Autoimmune Hyperthyroidism, and Hypoparathyroidism: A Unique Triad

Down's Syndrome, Autoimmune Hyperthyroidism, and Hypoparathyroidism: A Unique Triad Abstract Sir.—Herein we describe a boy with Down's syndrome, hyperthyroidism, and hypoparathyroidism, a triad that, to our knowledge, has not been previously reported. Hyperthyroidism in children with Down's syndrome has been described.1 We are aware of only three reports of patients with both hyperthyroidism and hypoparathyroidism.2-4 All three cases were in adults, and none of the patients had Down's syndrome. We performed endocrine studies and antibody assays in the patient and his mother and noted the characteristics of this expanded syndrome. Patient Report.—At 13 years of age the Patient exhibited the classic features of hyperthyroidism, including exophthalmos. His medical history included trisomy 21, a ventricular septal defect, and delayed motor and neurologic development. The thyroid gland was enlarged. Thyroid function measures were as follows: triiodothyronine (by radioimmunoassay), greater than 15.4 nmol/L (>1000 ng/dL); thyroxine, 364 nmol/L (28.3 μg/dL); and thyrotropin, 2 mU/L (2.0 μU/mL). Thyroid antibody titers References 1. Fialkow PJ: Thyroid autoimmunity and Down's syndrome . Ann NY Acad Sci 1970;171: 500-503.Crossref 2. Dahl JR, McFadden SD, Eisenberg E: Idiopathic hypoparathyroidism associated with hyperthyroidism . Ann Intern Med 1962;57: 635-638.Crossref 3. De Yeaza M, Stinebaugh BJ: Idiopathic hypoparathyroidism with hyperthyroidism . South Med J 1972;65:246-248.Crossref 4. Farup PG: Idiopathic hypoparathyroidism and hyperthyroidism . Ada Med Scand 1977;202: 261-264.Crossref 5. Daniels DM, Simon JL: Down's syndrome, hypothyroidism and diabetes mellitus . J Pediatr 1968;72:697-699.Crossref 6. Murdoch JC, Giles GA, Grant JK, et al: Hypothalamic-pituitary-adrenocortical function in adults with Down's syndrome . J Ment Defic Res 1979;23:157-162. 7. DuVivier A, Munro D: Alopecia areata, autoimmunity, and Down's syndrome . Br Med J 1975;1:191-192.Crossref 8. Burgio GR, Ugazio AG: Immunity in Down's syndrome . Eur J Pediatr 1978;127:293-294.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Down's Syndrome, Autoimmune Hyperthyroidism, and Hypoparathyroidism: A Unique Triad

Down's Syndrome, Autoimmune Hyperthyroidism, and Hypoparathyroidism: A Unique Triad

Abstract

Abstract Sir.—Herein we describe a boy with Down's syndrome, hyperthyroidism, and hypoparathyroidism, a triad that, to our knowledge, has not been previously reported. Hyperthyroidism in children with Down's syndrome has been described.1 We are aware of only three reports of patients with both hyperthyroidism and hypoparathyroidism.2-4 All three cases were in adults, and none of the patients had Down's syndrome. We performed endocrine studies and antibody assays in the...
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Publisher
American Medical Association
Copyright
Copyright © 1987 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1987.04460110019004
Publisher site
See Article on Publisher Site

Abstract

Abstract Sir.—Herein we describe a boy with Down's syndrome, hyperthyroidism, and hypoparathyroidism, a triad that, to our knowledge, has not been previously reported. Hyperthyroidism in children with Down's syndrome has been described.1 We are aware of only three reports of patients with both hyperthyroidism and hypoparathyroidism.2-4 All three cases were in adults, and none of the patients had Down's syndrome. We performed endocrine studies and antibody assays in the patient and his mother and noted the characteristics of this expanded syndrome. Patient Report.—At 13 years of age the Patient exhibited the classic features of hyperthyroidism, including exophthalmos. His medical history included trisomy 21, a ventricular septal defect, and delayed motor and neurologic development. The thyroid gland was enlarged. Thyroid function measures were as follows: triiodothyronine (by radioimmunoassay), greater than 15.4 nmol/L (>1000 ng/dL); thyroxine, 364 nmol/L (28.3 μg/dL); and thyrotropin, 2 mU/L (2.0 μU/mL). Thyroid antibody titers References 1. Fialkow PJ: Thyroid autoimmunity and Down's syndrome . Ann NY Acad Sci 1970;171: 500-503.Crossref 2. Dahl JR, McFadden SD, Eisenberg E: Idiopathic hypoparathyroidism associated with hyperthyroidism . Ann Intern Med 1962;57: 635-638.Crossref 3. De Yeaza M, Stinebaugh BJ: Idiopathic hypoparathyroidism with hyperthyroidism . South Med J 1972;65:246-248.Crossref 4. Farup PG: Idiopathic hypoparathyroidism and hyperthyroidism . Ada Med Scand 1977;202: 261-264.Crossref 5. Daniels DM, Simon JL: Down's syndrome, hypothyroidism and diabetes mellitus . J Pediatr 1968;72:697-699.Crossref 6. Murdoch JC, Giles GA, Grant JK, et al: Hypothalamic-pituitary-adrenocortical function in adults with Down's syndrome . J Ment Defic Res 1979;23:157-162. 7. DuVivier A, Munro D: Alopecia areata, autoimmunity, and Down's syndrome . Br Med J 1975;1:191-192.Crossref 8. Burgio GR, Ugazio AG: Immunity in Down's syndrome . Eur J Pediatr 1978;127:293-294.Crossref

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Nov 1, 1987

References

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