@article { author = {Mirsadraee, Raheleh and Vakili, Saba and Abbaszadegan, Mohammad Reza and Vakili, Rahim}, title = {Thyroxin-binding globulin deficiency in a boy with fragile X syndrome: a case report}, journal = {Reviews in Clinical Medicine}, volume = {3}, number = {4}, pages = {171-174}, year = {2016}, publisher = {Mashhad University of Medical Sciences}, issn = {2345-6256}, eissn = {2345-6892}, doi = {10.22038/rcm.2016.7486}, abstract = {Fragile X syndrome (FXS) is the most common known genetic cause of male intellectual disability. A wide variety of medical problems has been reported in FXS syndrome including seizures, facial abnormalities, macroorchidism, and autistic disorders. Here we reported a 9-year-old boy with fragile X syndrome that was confirmed through karyotyping and mental retardation. Initially, he was diagnosed as hypothyroidism when he was 15 months old. However, due to unusual clinical presentation, we re-evaluated the patient according to his history and clinical findings. Subsequently, targeted laboratory tests were performed and the results were indicative for thyroxin-binding globulin (TBG) deficiency in our patient. Therefore, levothyroxine was discontinued and one month later, laboratory tests were repeated and his diagnosis confirmed. As inherited TBG deficiency might also be X-linked, FXS and TBG deficiency may be coincidental findings in the patient.}, keywords = {Fragile X syndromes,Hypothyroidisms,TBG deficiency,Thyroid function test}, url = {https://rcm.mums.ac.ir/article_7486.html}, eprint = {https://rcm.mums.ac.ir/article_7486_c32ef9a0612e736303517b306f0e0143.pdf} }