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DiGeorge syndrome with Graves' disease: A case report
T Kawamura1, I Nimura, M Hanafusa
1Second Department of Internal Medicine, Hiroshima University School of Medicine, Japan.
Endocrine Journal
|May 16, 2000
Summary
DiGeorge syndrome (22q11.2 deletion) can present atypically in adults. This case highlights a late diagnosis in a woman with Graves
Area of Science:
- Genetics and Immunology
- Endocrinology
Background:
- DiGeorge syndrome (DGS), a condition linked to 22q11.2 deletion, typically manifests with thymus and parathyroid hypoplasia, cardiac defects, and facial anomalies.
- Hypocalcemia due to hypoparathyroidism is a common early symptom, often presenting as tetany within the first 48 hours of life.
Observation:
- A woman presented with tetany and was diagnosed with DiGeorge syndrome at age 18, with no prior symptoms.
- She had a history of intraventricular septal defect repair at age 3, hypoparathyroidism, decreased T cells, and a confirmed 22q11.2 deletion.
Findings:
- The patient developed autoimmune thyroid disease (Graves' disease), suggesting an incomplete immune abnormality profile.
- The 22q11.2 deletion was identified as the genetic basis for her DiGeorge syndrome diagnosis.
Implications:
- This case demonstrates that DiGeorge syndrome can have a delayed presentation and atypical immune manifestations, such as Graves' disease.
- The specific immune profile may influence long-term survival, offering insights into managing complex DGS cases.