Dyshormonogenic goiter

This code represents an enlargement of the thyroid gland (goiter) that results from an inherited defect in the synthesis of thyroid hormones. Despite the gland's effort to produce hormones, the defect leads to insufficient thyroid hormone levels, often causing a compensatory increase in thyroid-stimulating hormone (TSH) and subsequent goiter formation.

Assign this code when documentation indicates a goiter caused by an inborn error of thyroid hormone synthesis. This typically involves genetic defects affecting enzymes crucial for iodine trapping, organification, coupling, or deiodination. Supporting documentation would include genetic testing results, elevated TSH with low or normal thyroid hormones, and a clinical history consistent with congenital hypothyroidism presenting as goiter.

• Differentiate from other types of goiter (e.g., simple, toxic, nodular) which have distinct ICD-9-CM codes.
• Ensure documentation explicitly states the "dyshormonogenic" nature, often implying a congenital or inherited metabolic defect.
• Consider sequencing with codes for associated hypothyroidism if present and documented.