Genetic studies in a family with 'simple' goiter
| Autor: | Mary B. Arnold, William P. Deiss, James O. Wynn, Judson J. Van Wyk, John B. Graham |
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| Rok vydání: | 1962 |
| Předmět: |
endocrine system
medicine.medical_specialty Goiter endocrine system diseases Endocrinology Diabetes and Metabolism Clinical Biochemistry Biochemistry Genetic analysis chemistry.chemical_compound Endocrinology Internal medicine Medicine Humans Euthyroid Phenylthiocarbamide Autosome business.industry Biochemistry (medical) Thyroid medicine.disease medicine.anatomical_structure chemistry Myxedema business Sex linkage Goiter Nodular |
| Zdroj: | The Journal of clinical endocrinology and metabolism. 22 |
| ISSN: | 0021-972X |
| Popis: | Twenty-three goiterous individuals were identified in a large North Carolina pedigree. There was no single clinical feature that distinguished these individuals from many other patients in this area with “simple” goiter. Most were euthyroid and had a normal PBI, BEI and I131 uptake. There was no significant excess of affected individuals with taste blindness to phenylthiocarbamide. In 3 patients myxedema was provoked by the administration of Lugol's solution. Hashimoto's struma and antithyroid antibodies were found in some. Genetic analysis of a large segment of this pedigree indicated that the trait probably was inherited as a dominant character. There was a marked sex predilection for females and, in general, goiter was more severe in females during their productive years. Although sex linkage cannot be excluded with certainty, it is postulated that the abnormal gene is located on an autosome and that nongenetic factors play an important role in determining the degree of expression. Ovarian hor... |
| Databáze: | OpenAIRE |
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