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Hyperthyroidism in a case of Down syndrome
V A Londhey1, G C Rajadhyaksh, K S Barhate
1Department of Medicine, TNMC and BYL Nair Ch Hospital, Mumbai 400008.
The Journal of the Association of Physicians of India
|March 12, 2011
Summary
This case report highlights a rare association between Down syndrome (trisomy 21) and hyperthyroidism in an 18-year-old male. The patient presented with fever, renal abscesses, and thyroid dysfunction, successfully treated with antibiotics and anti-thyroid medication.
Area of Science:
- Endocrinology
- Genetics
- Nephrology
Background:
- Down syndrome, a genetic disorder caused by trisomy 21, is associated with various health complications.
- Hyperthyroidism is a less common comorbidity in individuals with Down syndrome.
Observation:
- An 18-year-old male with Down syndrome presented with a 3-week history of fever.
- Physical examination revealed a prominent thyroid swelling, resting tachycardia, and hyper-irritability.
- The patient also had multiple renal abscesses requiring antibiotic treatment.
Findings:
- Karyotyping confirmed trisomy 21.
- Thyroid function tests indicated hyperthyroidism.
- The patient's hyperthyroidism responded well to anti-thyroid drugs.
Implications:
- This case underscores the importance of considering endocrine abnormalities, specifically hyperthyroidism, in individuals with Down syndrome presenting with relevant symptoms.
- Early diagnosis and management of hyperthyroidism can improve patient outcomes.
- Further research may elucidate the specific mechanisms linking Down syndrome and increased risk of thyroid dysfunction.
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