Complex X Chromosome Rearrangement Associated with Multiorgan Autoimmunity

The study reported a case of a young female with Turner syndrome who exhibited a complex X chromosome rearrangement, leading to multiple autoimmune diseases such as type 1 diabetes mellitus, Hashimoto’s thyroiditis, celiac disease, and severe hair loss. Genetic analysis revealed a highly rearranged X chromosome with specific duplications and deletions, and skewed X inactivation. The findings suggested that such chromosomal abnormalities could elevate the risk of autoimmune diseases, providing new insights into the genetic mechanisms underlying X-linked autoimmune disorders. The research underscored the importance of genetic analysis in understanding and diagnosing autoimmune conditions.