A CASE OF CONGENITAL GOITER DUE TO IMPAIRED THYROGLOBULIN SYNTHESIS
نویسندگان
چکیده
منابع مشابه
Endemic goiter due to thyroglobulin gene abnormality and social ostracism.
Endemic goiter is clustered occurrences of goiter affecting more than 10% of the population in particular regions. The majority cases are attributed to environmental factors such as iodine deficiency, or food and water containing goiter-causing agents called goitrogens. We report a new type of endemic goiter where the basic abnormality was not due to environment factors, but to thyroglobulin ge...
متن کاملGenetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.
Thyroglobulin (TG) defects due to TG gene mutations have an estimated incidence of approximately 1 in 100,000 newborns. This dyshormonogenesis displays a wide phenotype variation and is characterized usually by: the presence of congenital goiter or goiter appearing shortly after birth, high (131)I uptake, negative perchlorate discharge test, low serum TG and elevated serum TSH with simultaneous...
متن کاملThe congenital goiter mutation is linked to the thyroglobulin gene in the mouse.
Rat thyroglobulin (TG) cDNA clones were used to identify DNA restriction fragment variants among inbred mouse strains. One of these variants was shown to be closely linked to the recessive mutation congenital goiter (cog), which had previously been mapped to mouse chromosome 15. These results indicate that the structural gene for thyroglobulin is on chromosome 15 and suggest that a mutation at ...
متن کاملNew insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter.
CONTEXT Thyroglobulin (TG) gene mutations cause congenital hypothyroidism (CH) with goiter. A founder effect has been proposed for some frequent mutations. Mutated proteins have a defect in intracellular transport causing intracellular retention with ultrastructural changes that resemble an endoplasmic reticulum storage disease. OBJECTIVE To reveal new aspects of thyroglobulin pathophysiology...
متن کاملCongenital Goiter Presenting as a Transient Neck Swelling in a Newborn: A Case Report
Background: Goiter is not frequently seen in the neonatal period.Case report: We report the case of a full-term neonate who was born with anterior neck swelling and observed tosuffer from congenital goiter on examination. Thyroid function tests were within normal limits. Thyroid swellinggradually reduced in size during the 1st week of life. All the cases of congenital goiter t...
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ژورنال
عنوان ژورنال: Nihon Naika Gakkai Zasshi
سال: 1976
ISSN: 0021-5384,1883-2083
DOI: 10.2169/naika.65.771