Thyroid hormone resistance syndrome, which inherits in either autosomal dominant or recessive manner, is characterized by reduced end-organ responsiveness to thyroid hormone. It is caused by mutations in the gene of thyroid hormone receptor and the locations of the mutations in the gene are associated with the phenotypes, such as generalized resistance, pituitary selective resistance.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Disorders of the thyroid gland or thyroid hormones system
5A00 Hypothyroidism
H00249 Thyroid hormone resistance syndrome
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06322 TRH-TSH-TH signaling
H00249 Thyroid hormone resistance syndrome
