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Familial partial target organ resistance to thyroid hormones
The Journal of Clinical Endocrinology and Metabolism
|September 1, 1976
Summary
This study describes a patient with partial resistance to thyroid hormones, characterized by elevated thyroid hormone levels and abnormal thyroid-stimulating hormone responses. Her family members also showed thyroid hormone abnormalities.
Area of Science:
- Endocrinology
- Molecular Endocrinology
- Genetics
Background:
- Recurrent goiter and prior thyroidectomies in a 30-year-old woman.
- Clinical presentation of hyperthyroidism symptoms including tachycardia, nervousness, and tremor.
Observation:
- Initially normal thyroid hormone levels with markedly elevated serum thyrotropin (TSH).
- Exaggerated TSH response to thyrotropin-releasing hormone (TRH) and blunted response after prednisolone.
- TSH levels decreased with T3 administration and increased with carbimazole treatment.
Findings:
- Demonstrates partial resistance to thyroid hormones (PRTH).
- Family members exhibited elevated thyroxine (T4) with normal TSH, suggesting a potential genetic component.
- Absence of pituitary enlargement or other pituitary hormone abnormalities.
Implications:
- Highlights the diagnostic challenges in differentiating PRTH from other thyroid conditions.
- Suggests the need for comprehensive hormonal and familial evaluation in suspected PRTH cases.
- Contributes to understanding the spectrum of thyroid hormone resistance syndromes.