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.
The etiologies of CH based on scintigraphic imaging of the thyroid gland (32 cases) were thyroid dyshormonogenesis
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