Article
Autosomal dominant nonautoimmune hyperthyroidism. Clinical features-diagnosis-therapy.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 Jan 1998
Führer D, Mix M, Willgerodt H, Holzapfel H P, Von Petrykowski W, Wonerow P, Paschke R
Abstract excerpt
Autosomal dominant nonautoimmune hyperthyroidism is a hereditary form of hyperthyroidism caused by constitutively activating germline mutations in the TSH-receptor gene. Clinical features comprise familial prevalence of thyroid autonomy in more than 2 generations and conditions of persisting neon...
Topics
- Adult
- Child
- Codon
- Cyclic AMP
- DNA Mutational Analysis
- Female
- Genes, Dominant
- Genotype
- Germ-Line Mutation
- Humans
- Hyperthyroidism
- Infant, Newborn
- Male
- Phenotype
- Polymerase Chain Reaction
- Receptors, Thyrotropin