Thyroid hormone resistance syndrome with P453T mutation in thyroid hormone receptor β gene: A pedigree report.

ABSTRACT:

Rationale

Thyroid hormone resistance syndrome (THRS) is an inherited condition characterized by reduced responsiveness of target tissues to thyroid hormone. Due to their nonspecific symptomatic manifestations, these patients can be misdiagnosed. This study reports a pedigree with THRS caused by a mutation in the thyroid hormone receptor β (THRβ) gene.

Patient concern

The proband, a 36-year-old woman at 19+4 weeks of gestation, was referred to our hospital because of abnormal thyroid function results. She was diagnosed with hyperthyroidism in October 2015, and had been treated with methimazole until her pregnancy.

Diagnosis

The proband and 2 of her children were diagnosed with THRS based on genetic analysis. Sequence analysis of the THRβ gene showed a heterozygous muta

SUBMITTER: Yusufu A 

PROVIDER: S-EPMC7598850 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature