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thyroid hormone resistance, generalized, autosomal recessive

A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.

Therapeutic area
Endocrine / Metabolic
Rarity
Unknown
Prevalence
MONDO
MONDO:0010131

Overview

A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.

Content last reviewed: 2026-06