Refetoff Syndrome

Refetoff Syndrome is a rare genetic disorder affecting thyroid hormone production. People with this condition have normal or high levels of thyroid hormones but show signs of hypothyroidism, which is a deficiency in these hormones. This paradox occurs because their bodies are unable to respond effectively to thyroid hormones due to specific receptor issues. Symptoms can include fatigue, weight gain, and sensitivity to cold. Diagnosis often involves blood tests, and treatment typically includes thyroid hormone replacement therapy to manage symptoms and support normal growth and development. Early detection and treatment are crucial for optimal outcomes.