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Related Experiment Video

Updated: Oct 4, 2025

Substernal Thyroid Biopsy Using Endobronchial Ultrasound-guided Transbronchial Needle Aspiration
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Thyroid Hormone Resistance: Multicentrical Case Series Study.

Maria Angeles Santos Mata1, Ana Belen Ariza Jimenez2, Francisco Macias Lopez1

  • 1Hospital Maternoinfantil de Jerez, Cadiz, Spain.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme
|February 7, 2022
PubMed
Summary

Resistance to thyroid hormone syndrome (RTHS) is a rare genetic disorder affecting thyroid hormone action. Prompt molecular diagnosis and genetic counseling for THRB gene variants are crucial to prevent misdiagnosis and unnecessary treatments.

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Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Resistance to thyroid hormone syndrome (RTHS) is characterized by elevated thyroid hormones with normal/high TSH.
  • It typically results from pathogenic variants in the thyroid hormone receptor beta (THRB) gene.
  • RTHS signifies altered target tissue response to thyroid hormone action.

Purpose of the Study:

  • To describe the clinical and biochemical characteristics of RTHS patients.
  • To analyze patient data based on age groups (pediatric and adult).
  • To highlight the importance of molecular diagnosis and genetic counseling.

Main Methods:

  • Retrospective, cross-sectional observational study.
  • Inclusion of patients diagnosed with RTHS from 2014-2020.
  • Molecular analysis of the THRB gene in pediatric and adult cohorts.

Main Results:

  • A cohort of 22 patients (7 pediatric, 15 adult) was analyzed.
  • A male predominance (14/22) was observed.
  • Common findings included goiter (31.8%), sympathetic symptoms (31.8%), and behavioral abnormalities (13.6%).
  • A significant familial background (77.3%) was noted, with 18.2% receiving incorrect treatments due to misdiagnosis.

Conclusions:

  • Understanding RTHS, including prompt molecular diagnosis of THRB variants, is essential.
  • Accurate diagnosis and genetic counseling can prevent unnecessary investigations and inappropriate medical interventions.
  • Early identification aids in managing RTHS effectively and avoiding harmful treatments.