familial goitremedical dictionary

<endocrinology> A group of heritable thyroid disorders in which goitre is commonly apparent first during childhood; often associated with skeletal and/or mental retardation, and with other signs of hypothyroidism that may develop with age.

Various types of familial goitre have been identified:

1. Iodide transport defect, in which the gland is unable to concentrate iodide.

2. Organification defect, in which the iodination of tyrosine is defective.

3. Pendred's syndrome.

4. Coupling defect, in which cretinism results from defective coupling of iodotyrosines to form iodothyronines.

5. Iodotyrosine deiodinase defect, in which deiodination of iodotyrosine is defective, considerable glandular loss of these hormonal precursors occurs, and cretinism may be present.

6. Plasma iodoprotein disorder, in which an abnormal iodinated serum protein that is insoluble in acidic butanol is present.

7. Hereditary hyperthyroidism.

American spelling: familial goiter

(05 Jul 2010)