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Relation between phenotype and intra-cellular thyroid hormone effect in patients with altered peripheral thyroid
1Institute of Clinical Research, Odense University Hospital, Denmark.
Clinical Endocrinology
|July 1, 1993
Summary
Generalized thyroid hormone resistance (GTHR) in phenotypically normal individuals is linked to impaired glucose uptake. This contrasts with osteopetrosis patients, where insensitivity is at the mitochondrial level, affecting oxygen consumption.
Area of Science:
- Endocrinology
- Molecular Biology
- Genetics
Background:
- Thyroid hormone resistance is a rare condition affecting cellular response to thyroid hormones.
- Phenotypic variability exists among patients with altered thyroid hormone sensitivity.
- Understanding the cellular basis of resistance is crucial for diagnosis and management.
Purpose of the Study:
- To investigate the relationship between distinct phenotypic appearances in thyroid hormone resistance and the specific intracellular thyroid hormone effect.
- To differentiate cellular defects in generalized thyroid hormone resistance (GTHR) from other forms of peripheral thyroid hormone insensitivity.
Main Methods:
- Studied two members of a family with GTHR and nine healthy controls.
- Assessed basal thyroid hormone function tests.
- Measured thyroid hormone-stimulated oxygen consumption and glucose uptake in mononuclear blood cells.
Main Results:
- The GTHR patients exhibited normal phenotype except for nodular goitre.
- Thyroid hormone-stimulated glucose uptake was significantly depressed.
- Thyroid hormone-stimulated oxygen consumption remained within normal limits.
Conclusions:
- Classic GTHR, presenting with normal or goitrous phenotype, is associated with impaired thyroid hormone-stimulated glucose uptake.
- Thyroid hormone insensitivity in osteopetrosis patients appears to originate at the mitochondrial level, affecting oxygen consumption.