Dyshormogenetic goiter

This code represents an enlarged thyroid gland (goiter) resulting from an inherited defect in thyroid hormone synthesis. This genetic enzyme deficiency impairs the thyroid's ability to produce adequate thyroid hormones, leading to compensatory thyroid growth.

Use this code when documentation indicates a goiter caused by an inborn error of metabolism affecting thyroid hormone production. This diagnosis is typically supported by genetic testing, elevated TSH levels, and low thyroid hormone levels in the presence of a palpable goiter.

• Ensure documentation specifies the goiter is due to a dyshormogenetic cause, not other forms of goiter.
• Do not code with P72.0 (transitory congenital goiter with normal function) as per Excludes1 note.
• Consider additional codes for associated hypothyroidism (e.g., E03.1 for congenital hypothyroidism with goiter) if present.