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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-02-12

AUTHORS

Ozlem Korkmaz, Samim Ozen, Taha Resid Ozdemir, Damla Goksen, Sukran Darcan

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. More... »

PAGES

1-5

References to SciGraph publications

Journal

TITLE

Hormones

ISSUE

N/A

VOLUME

N/A

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s42000-019-00094-9

DOI

http://dx.doi.org/10.1007/s42000-019-00094-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1112074041

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30747412


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