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Thyroid hormone resistance syndrome with P453T mutation in thyroid hormone receptor ? 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 ? (THR?) 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 THR? gene showed a heterozygous mutation C>A located at exon 10. The mutation results in a change in proline for threonine at amino acid position 453, P453T. INTERVENTIONS:No treatment will fully and specifically correct the defect. All 3 patients were in normal metabolic status, and thus treatment was not required. OUTCOMES:During a 2-year follow-up period, none of them had any complaints. The 20-year-old son (167?cm in height) and the 18-year-old daughter (150?cm in height) both had low academic performance. LESSONS:Elevated serum thyroid hormone (TH) levels associated with nonsuppressed thyroid-stimulating hormone (TSH) levels usually leads to the diagnosis of THRS. Genetic analysis provides a short cut to diagnosis and the treatment should be based on the patient's clinical manifestations.

SUBMITTER: Yusufu A

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

REPOSITORIES: biostudies-literature

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

Yusufu Ayiguli A Chen Wen-Jing WJ Zhang Ming-Chen MC

Medicine 20201001 44

<h4>Rationale</h4>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.<h4>Patient concern</h4>The proband, a 36-year-old woman at 19+4 weeks of gestation, was referred to our hospital because of abnormal thyro ...[more]

PMID: 33126322

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Project description:BackgroundTo summarize the clinical characteristics, genetics and follow-up data of four children with thyroid hormone resistance (RTH) syndrome and review the related literatures.MethodsThe clinical data of the four children diagnosed with RTH syndrome in our hospital from 2018 to 2020 were retrospectively analyzed. Next-generation sequencing of the candidate genes related to thyroid diseases was performed using the blood collected from all the children and their parents who signed an informed consent. Then, relevant cases were retrieved on medical literature databases for analysis and summary.ResultsAmong the four cases, three cases of goiter; two cases of tachycardia, palpitations, personality change, hyperactivity, weight loss; one case of academic performance decline, and no hearing and vision loss were observed. Laboratory thyroid function tests indicated a mild increase in free triiodothyronine and with or without increased free thyroxine levels. Thyroid-stimulating hormone (TSH) levels were normal or slightly elevated, but thyrotropin receptor autoantibodies were negative. Octreotide inhibition test showed that the TSH levels of all the children decreased by more than 50% compared with the basal value (the genes of four cases were positive). However, magnetic resonance imaging of the pituitary gland showed no abnormalities. Related gene detection in the children and their families showed that four cases had THRB mutations: two proband mutations were from their fathers, and two cases had de novo mutations.ConclusionsThe clinical manifestations of pediatric RTH syndrome vary, and the diagnosis mainly depends on thyroid function tests. Heterozygous mutations in THRB are overall rare, even if with the advanced development of next-generation sequencing, not all the children with RTH syndrome have mutations. Furthermore, octreotide inhibition tests cannot be used as a diagnostic criterion to distinguish RTH syndrome from pituitary tumors in children.

Dataset Information

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

Publications

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

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