Medizinische Universität Graz - Research portal
Selected Publication:
Lax, SF; Semlitsch, G; Noiges, R; Höfler, G.
Point mutation of thyrotropin receptors as the main cause of autonomously functioning thyroid nodules: experiences in the framework of our Styrian patients
Acta Med Austriaca. 2000; 27(2):49-50
Doi: 10.1046%2Fj.1563-2571.2000.00205.x
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- Co-authors Med Uni Graz
- Höfler Gerald
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- Abstract:
- Autonomously functioning thyroid nodules are frequently associated with mutations of the thyrotropin receptor. We analyzed a part of exon 10 of the thyrotropin receptor gene (base pairs 1762-1976) by direct sequencing and found missense mutations in 5 of 14 cases (codons 629, 631, 632, 633). Histologically, 3 of the 14 nodules were adenomas whereas 11 were hyperplasias. Nodules with mutations did not show significant differences from nodules without mutations with respect to age, histology, size, additional (non-functional) nodules and clinical symptomatology. Our results confirm that thyrotropin receptor mutations are involved in the development of autonomously functioning thyroid nodules. In this context, the terms hyperplasia and neoplasia should be reevaluated.
- Find related publications in this database (using NLM MeSH Indexing)
- Adenoma - genetics
- Adult - genetics
- Aged - genetics
- Austria - genetics
- Exons - genetics
- Humans - genetics
- Hyperplasia - genetics
- Middle Aged - genetics
- Mutation, Missense - genetics
- Point Mutation - genetics
- Receptors, Thyrotropin - genetics
- Thyroid Function Tests - genetics
- Thyroid Gland - pathology
- Thyroid Neoplasms - genetics
- Thyroid Nodule - genetics
- Find related publications in this database (Keywords)
- thyrotropin receptor
- mutation
- autonomously functioning thyroid nodule
- hyperthyroidism