Thyroid Hormone Resistance: A 17-Year Follow-up Case Report

Area of Science:

• Endocrinology
• Genetics
• Internal Medicine

Background:

• Resistance to thyroid hormone (RTH) is a rare genetic disorder caused by mutations in thyroid hormone receptor genes, primarily Thyroid hormone Receptor-beta (TRβ).
• Characterized by peripheral insensitivity to thyroid hormones, RTH leads to elevated thyroid hormone levels (FT3, FT4) with paradoxically non-suppressed Thyroid-stimulating Hormone (TSH).
• Clinical manifestations range from hyperthyroid to hypothyroid symptoms, depending on the specific genetic mutation and receptor defect.

Observation:

• A 24-year-old female diagnosed with RTH at age 7 presented with chronic headaches, palpitations, hyperhidrosis, frequent evacuations, and severe underweight.
• Laboratory results confirmed high FT3 and FT4 levels with a non-suppressed TSH.
• Complication screening revealed mild osteoporosis; cardiac function was normal, managed with bisoprolol.

Findings:

• This case report details the long-term symptoms and complications associated with RTH syndrome.
• The patient's prolonged history provides insights into the chronic effects and management challenges of RTH.
• Observed complications included mild osteoporosis and significant underweight, alongside typical RTH hormonal profiles.

Implications:

• This case underscores the importance of recognizing RTH as a rare but significant endocrine disorder.
• Comprehensive evaluation and long-term monitoring are crucial for managing RTH complications like osteoporosis.
• Understanding the diverse manifestations and progression of RTH aids in developing personalized treatment strategies.