Thyroxin-binding globulin deficiency in a boy with fragile X syndrome: a case report

Mirsadraee, Raheleh and Vakili, Saba and Abbaszadegan, Mohammad Reza and Vakili, Rahim (2016) Thyroxin-binding globulin deficiency in a boy with fragile X syndrome: a case report. Reviews in Clinical Medicine, 3 (4). pp. 171-174.

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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.

Item Type: Article
Subjects: QU Biochemistry
Divisions: Journals > Reviews in Clinical Medicine
Depositing User: RCM RCM
Date Deposited: 26 Sep 2017 14:33
Last Modified: 26 Sep 2017 14:33

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