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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: 1) signs & symptoms of hypothyroidism a) goiter b) abnormal mental functions c) increased susceptibility toinfections d) abnormal growth & bone maturation e) tachycardia f) deafness 2) 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

Related

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

General

thyroid disease genetic syndrome (multisystem disorder)

Database Correlations

OMIM correlations MORBIDMAP 190160

References

  1. Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998
  2. Rivas AM, Lado-Abeal J. Thyroid hormone resistance and its management. Proc (Bayl Univ Med Cent). 2016 Apr;29(2):209-11. PMID: 27034574 Free PMC article