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Graves' disease in patients with 22q11.2 deletion

H Kawame1, M Adachi, K Tachibana

  • 1Division of Clinical and Molecular Genetics, Shinshu University Hospital, Nagano, Japan.

The Journal of Pediatrics
|December 18, 2001
PubMed

Insights

22q11.2 deletion syndrome is linked to Graves' disease in children and adults. This study suggests Graves' disease may be part of the 22q11.2 deletion syndrome

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • 22q11.2 deletion syndrome is a common genetic disorder.
  • Graves' disease is an autoimmune disorder causing hyperthyroidism.
  • The association between 22q11.2 deletion syndrome and Graves' disease is not well-established.

Observation:

  • Five patients (4 female, 1 male) with 22q11.2 deletion syndrome were diagnosed with Graves' disease.
  • Diagnoses occurred at ages ranging from 27 months to 17 years.
  • One infant presented with seizures alongside hyperthyroid symptoms.

Findings:

  • All patients exhibited elevated thyroid hormones and suppressed TSH levels, consistent with hyperthyroidism.
  • Clinical presentations were typical for hyperthyroidism.
  • The findings suggest a potential link between the genetic deletion and the autoimmune thyroid condition.

Implications:

  • Graves' disease may be a component of the 22q11.2 deletion syndrome's clinical spectrum.
  • This association warrants further investigation and consideration in clinical practice.
  • Early recognition of Graves' disease in individuals with 22q11.2 deletion syndrome is crucial for timely management.

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