dyshormonogenesis


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dyshormonogenesis

A defect in the synthesis of the thyroid hormone thyroxine due to an enzyme failure. The low levels of thyroxine in the blood cause a large output of thyroid stimulating hormone (TSH) from the PITUITARY gland and the result is an enlargement of the thyroid gland (goitre).
References in periodicals archive ?
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Analytical interference in TSH or fT4 immunoassay, congenital hypothyroidism secondary to dyshormonogenesis, and consumptive hypothyroidism due to hemangioendothelioma are the possible causes for discrepant TSH and fT4 results in this patient.
The commonest etiologies are thyroid dysgenesis (aplasia, hypoplasiaand ectopics) and dyshormonogenesis.
Increased pertechnetate uptake is rarely seen in the gland, in keeping with dyshormonogenesis, which has a higher hereditary incidence.
Twelve patients (36%) were diagnosed with dyshormonogenesis, which consisted of an organification defect in all but one patient.
9] Ten to fifteen percent of infants with primary congenital hypothyroidism have dyshormonogenesis.