Thyroid appearance of cells is viewed to determine whether they resemble normal or cancerous cells. There can be many nodules, which is termed a multinodular goitre, and this can sometimes be a toxic multinodular goitre. An enlarged thyroid gland is called a goitre. Goitres are present in some form in about 5% of people, and are the result of a large number of causes, including iodine deficiency, autoimmune disease (both Grave's disease and Hashimoto's thyroiditis), infection, inflammation, and infltrative disease such as sarcoidosis and amyloidosis. Sometimes no cause can be found, a state called "simple goitre". Some forms of goitre are
PMM2 deficiency PMM2 deficiency PMM2 deficiency or PMM2-CDG is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disorder. A defective copy of the PMM2 gene is the most common cause of a disease called “congenital disorders of glycosylation” or “PMM2-CDG”. PMM2-CDG is the most common of a growing family of more than 100 extremely rare inherited metabolic disorders. Only about 1000 children and adults have been reported worldwide. PMM2 deficiency is diagnosed through genetic sequencing. More than 115 mutations in PMM2 gene have been found to cause this disease. There is no cure for PMM2