Congenital hypothyroidism with diffuse goiter
ICD-10 E03.0 is a billable code used to indicate a diagnosis of congenital hypothyroidism with diffuse goiter.
Congenital hypothyroidism with diffuse goiter is a condition characterized by an underactive thyroid gland present at birth, often accompanied by an enlargement of the thyroid gland (goiter). This condition arises due to various genetic factors or iodine deficiency during pregnancy. The thyroid gland is crucial for producing hormones that regulate metabolism, growth, and development, particularly in infants and children. In congenital hypothyroidism, the lack of thyroid hormones can lead to severe developmental delays, intellectual disabilities, and growth retardation if not diagnosed and treated promptly. The presence of a diffuse goiter indicates that the thyroid gland is enlarged but not nodular, which can occur due to overstimulation by thyroid-stimulating hormone (TSH) in response to low hormone levels. Diagnosis typically involves thyroid function tests, including serum TSH and thyroxine (T4) levels, and may be confirmed through imaging studies. Early detection through newborn screening programs is critical to prevent long-term complications.
Detailed history of newborn screening results, growth parameters, and developmental assessments.
Newborns presenting with lethargy, poor feeding, or developmental delays.
Ensure that all thyroid function tests are documented, including TSH and T4 levels, and any imaging studies performed.
Comprehensive evaluation of thyroid function, including lab results and treatment plans.
Patients with a confirmed diagnosis of congenital hypothyroidism requiring ongoing management.
Document any changes in treatment protocols and monitor for potential complications.
Used to confirm diagnosis of congenital hypothyroidism.
Document the reason for testing and results.
Endocrinologists should ensure comprehensive thyroid function testing.
Common symptoms include poor feeding, lethargy, constipation, dry skin, and developmental delays. Early diagnosis is crucial for effective management.
