What question did this study set out to answer?

To identify and characterize a novel mutation in the THRB gene responsible for thyroid hormone resistance syndrome.

February 8, 2026

Identification of a novel THRB mutation causing thyroid hormone resistance syndrome.

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A case report identifies a THRB mutation causing thyroid hormone resistance in a middle-aged male, suggesting improved diagnostic pathways.

To identify and characterize a novel mutation in the THRB gene responsible for thyroid hormone resistance syndrome.
Case report focusing on clinical presentation and laboratory findings.
Genetic testing performed to identify mutations in the THRB gene.
Magnetic resonance imaging of the pituitary gland conducted to rule out abnormalities.
A novel heterozygous point mutation in the THRB gene was identified (c.938T>C: p.M313T).
Patient exhibited elevated serum thyroid hormone levels with normal TSH levels.
The mutation site has not been previously reported, highlighting its novelty.

Yang et al. (2026) studied this question.

View Full Paper

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February 8, 2026

View Full Paper

Ask AI

Bookmark

Authors

A case report identifies a THRB mutation causing thyroid hormone resistance in a middle-aged male, suggesting improved diagnostic pathways.

To identify and characterize a novel mutation in the THRB gene responsible for thyroid hormone resistance syndrome.
Case report focusing on clinical presentation and laboratory findings.
Genetic testing performed to identify mutations in the THRB gene.
Magnetic resonance imaging of the pituitary gland conducted to rule out abnormalities.
A novel heterozygous point mutation in the THRB gene was identified (c.938T>C: p.M313T).
Patient exhibited elevated serum thyroid hormone levels with normal TSH levels.
The mutation site has not been previously reported, highlighting its novelty.

Yang et al. (2026) studied this question.

View Full Paper

Ask AI

Bookmark