syndrome of thyroid hormone resistance; generalized thyroid hormone resistance; Refetoff syndrome

Pathology

• generalized resistance to thyroid hormone

Genetics

• may be positive family history
• autosomal dominant & autosomal recessive forms
• associated with point mutations in the T3 receptor beta gene (erbA2)

Clinical manifestations

• signs & symptoms of hypothyroidism
  • goiter
  • abnormal mental functions
  • increased susceptibility toinfections
  • abnormal growth & bone maturation
  • tachycardia
  • deafness
• may be associated with attention deficit disorder & language difficulties

Laboratory

• inappropriately measurable serum TSH in the presence of:
  • elevated total serum T3, serum T4
  • elevated free T3 & free T4
• THRB gene mutation

Management

• levothyroxine treatment generally unnecessary except in hypothyroid patients with high levels of TSH

More general terms

• thyroid disease
• genetic syndrome (multisystem disorder)

Additional terms

• selective pituitary thyroid hormone resistance (PRTH); familial hyperthyroidism due to inappropriate thyrotropin secretion

Database

• OMIM: https://mirror.omim.org/entry/188570
• OMIM: https://mirror.omim.org/entry/274300
• OMIM: https://mirror.omim.org/entry/190160