The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation.

The altered levels of thyroid hormones are notable but not necessary markers for diagnosing AHDS. The candidate diagnosis of AHDS should be considered in patients with X-linked recessive intellectual disability syndrome with neuromuscular involvements irrespective of levels of thyroid hormones; otherwise, it could lead to the under-diagnosis of the disorder.