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[Thyroid hormone resistance: variable clinical manifestations in five patients]
W Reinhardt1, F Jockenhövel, J Deuble
1Abteilung für Endokrinologie, Universität GH Essen, Deutschland.
Nuklearmedizin. Nuclear Medicine
|January 24, 1998
Summary
Thyroid hormone resistance (RTH) involves genetic mutations causing varied symptoms, including goiter and refractory hyperthyroidism. Early consideration of RTH and regular thyroid antibody testing are crucial for managing patients.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Thyroid hormone resistance (RTH) is a genetic disorder characterized by elevated thyroid hormones and unsuppressed TSH.
- It stems from point mutations in the thyroid hormone receptor beta gene, affecting hormone action.
- Patients may present with hyperthyroidism or euthyroid states depending on tissue sensitivity.
Observation:
- This study evaluated five patients with RTH, analyzing their clinical and biochemical profiles.
- Methods included thyroid function tests, TRH stimulation, T3 suppression tests, thyroid ultrasound, and gene sequencing.
- Point mutations in the thyroid hormone receptor beta gene were identified in all patients.
Findings:
- RTH was familial in three patients and sporadic in two.
- Three patients required thyroid surgery or radioiodine treatment for goiter or refractory hyperthyroidism.
- One patient developed Graves' disease, and another showed positive TPO-antibodies, indicating Hashimoto's thyroiditis.
Implications:
- RTH should be suspected in patients with inappropriate TSH secretion.
- The diverse clinical presentations of RTH necessitate careful evaluation.
- Monitoring for autoimmune thyroid disease is recommended in RTH patients due to potential co-occurrence.