Familial generalised resistance to thyroxine: case study.
We describe the clinical features of members of a family with an atypical form of thyroid hormone resistance syndrome, affecting thyroxine predominantly. Relevant diagnostic clinical and biochemical investigations are outlined and discussed.
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004351:Drug Resistance; D005260:Female; D006801:Humans; D006981:Hyperthyroxinemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D012738:Sex Hormone-Binding Globulin / Q000032:analysis; D013577:Syndrome; D013971:Thyrotoxicosis / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy; D013972:Thyrotropin / Q000097:blood; D013973:Thyrotropin-Releasing Hormone; D013974:Thyroxine / Q000097:blood / Q000627:therapeutic use*
D012738:Sex Hormone-Binding Globulin; D013973:Thyrotropin-Releasing Hormone; D013972:Thyrotropin; D013974:Thyroxine