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A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance

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Abstract

Thyroid hormone receptor alpha (THRA) gene mutation is a thyroid hormone resistance syndrome characterized by near-normal thyroid function tests and tissue-specific hypothyroidism. In this case study, we report a novel de novo p.G291S heterozygous mutation in the THRA gene was detected at mutation analysis. A 4-year-old male patient was admitted due to short stature, motor-mental retardation, and constipation. At physical examination, coarse facial appearance, eyelid edema, pallor, and umbilical hernia were observed. Primary thyroid hormone resistance should be considered in patients with phenotypically hypothyroid features. Laboratory analysis found moderate elevation in free triiodothyronine (T3) levels, normochromic normocytic anemia, and elevated creatine kinase levels. In conclusion, THRA gene mutation should be considered in patients with clinical hypothyroid findings and increased/moderately elevated free T3, decreased/ normal free thyroxine, normal thyroid-stimulating hormone levels, and increased muscle enzymes.

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Authors and Affiliations

  1. Ege University Faculty of Medicine Department of Pediatric Endocrinology and Diabetes, Ege University, 35100 Bornova, Izmir, Turkey

    Ozlem Korkmaz, Samim Ozen, Damla Goksen & Sukran Darcan

  2. Tepecik Training and Research Hospital, Department of Genetics, Health Sciences University, Izmir, Turkey

    Taha Resid Ozdemir

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  1. Ozlem Korkmaz
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  2. Samim Ozen
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  3. Taha Resid Ozdemir
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  4. Damla Goksen
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  5. Sukran Darcan
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Correspondence to Ozlem Korkmaz.

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Informed consent was obtained from the patients’ parents for publication.

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Korkmaz, O., Ozen, S., Ozdemir, T.R. et al. A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance. Hormones 18, 223–227 (2019). https://doi.org/10.1007/s42000-019-00094-9

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  • DOI: https://doi.org/10.1007/s42000-019-00094-9

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