ABSTRACT The syndrome of resistance to thyroid hormone beta (RTHβ) is characterized by impaired tissue responsiveness to thyroid hormone and manifests as non-suppressed thyrotropin despite elevated thyroid hormone levels. RTHβ is most often caused by missense mutations in the thyroid hormone receptor beta (THRB) gene and is typically inherited in an autosomal dominant manner. Autoimmune thyroid disease is the most common cause of primary hypothyroidism worldwide. Association of RTHβ with autoimmune hypothyroidism is extremely rare. We describe an Indian kindred […]
