Dyshormogenetic goiter
ICD-10 E07.1 is a billable code used to indicate a diagnosis of dyshormogenetic goiter.
Dyshormogenetic goiter is a type of thyroid disorder characterized by an abnormality in hormone synthesis, leading to an enlarged thyroid gland (goiter). This condition is often associated with congenital defects in the synthesis of thyroid hormones, which can result from genetic mutations affecting enzymes involved in hormone production. Patients may present with symptoms of hypothyroidism or hyperthyroidism, depending on the severity of the hormone deficiency or excess. The goiter itself can vary in size and may cause compressive symptoms such as difficulty swallowing or breathing. Diagnosis typically involves thyroid function tests, which assess levels of thyroid hormones (T3, T4) and thyroid-stimulating hormone (TSH). Imaging studies, such as ultrasound, may also be utilized to evaluate the size and structure of the thyroid gland. Management of dyshormogenetic goiter often requires hormone replacement therapy and, in some cases, surgical intervention if the goiter is causing significant symptoms or complications.
Thorough documentation of thyroid function tests, imaging studies, and genetic testing results.
Patients presenting with goiter and abnormal thyroid function tests.
Ensure clear differentiation between dyshormogenetic goiter and other thyroid disorders.
Documentation of family history and genetic testing results.
Patients with a family history of thyroid disorders or congenital hypothyroidism.
Highlight the genetic basis of the disorder for accurate coding.
Used to evaluate thyroid function in patients suspected of having dyshormogenetic goiter.
Document the reason for testing and the patient's symptoms.
Endocrinologists should ensure comprehensive thyroid panels are ordered.
Common symptoms include an enlarged thyroid gland, difficulty swallowing or breathing, fatigue, weight changes, and symptoms of either hypothyroidism or hyperthyroidism depending on the hormone levels.
