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Related Experiment Videos

Autoimmune thyroiditis in 18q deletion syndrome.

Jefferson P Lomenick1, W Jackson Smith, Susan R Rose

  • 1Division of Endocrinology, University of Kentucky College of Medicine, Kentucky Clinic, Lexington, KY 40536, USA. jplome2@email.uky.edu

The Journal of Pediatrics
|October 18, 2005
PubMed
Summary

The 18q deletion syndrome, characterized by physical and intellectual disabilities, is rarely associated with autoimmune disorders. This study presents two children with 18q deletion experiencing autoimmune hypothyroidism.

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Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • The 18q deletion syndrome is a genetic disorder associated with distinct physical and cognitive impairments.
  • Autoimmune conditions are infrequently reported in individuals with 18q deletion syndrome.

Observation:

  • Two pediatric cases of 18q deletion syndrome were identified.
  • Both patients presented with autoimmune hypothyroidism.

Findings:

  • This report details the occurrence of autoimmune hypothyroidism in children diagnosed with 18q deletion syndrome.
  • The findings highlight a potential link between 18q deletion and autoimmune thyroid disease.

Implications:

  • Increased awareness of autoimmune disorders, particularly hypothyroidism, is warranted in the clinical management of 18q deletion syndrome.

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  • Further research may elucidate the underlying mechanisms connecting chromosomal abnormalities and autoimmune conditions.