Purpose: Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked recessive intellectual disability syndrome with neuromuscular involvements. Altered thyroid function tests are major milestones in AHDS diagnosis. However, due to phenotypic variations in the levels of thyroid hormones in AHDS patients, we believe that the disorder is often under-diagnosed. Here, we report a three-and-a-half-year-old boy with AHDS diagnosis and normal levels of thyroid hormones. Methods: Whole-exome sequencing followed by data analysis was performed on the patient’s sample. The mutation was confirmed by Sanger sequencing in the patient and his mother. Results: We report a three-and-a-half-year-old boy with AHDS diagnosis and a novel synonymous missense mutation (c. 1026G>A) in SLC16A2 gene manifesting normal levels of T3, T4, and TSH. The mutation causes no change in amino acid sequence, but affects splicing through alteration of an exonic splicing enhancer. To the best of our knowledge, there are only three similar reports in the literature reporting AHDS diagnosis and normal levels of thyroid hormones. Conclusions: It is concluded that altered levels of thyroid hormones are notable but not necessary markers for diagnosis of 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 under-diagnosis of the disorder.
The Role of Thyroid Function Tests in the Diagnosis of Allan-Herndon-Dudley Syndrome Revisited: A Novel Mutation From Iran
