Congenital hypothyroidism without goiter
ICD-10 E03.1 is a billable code used to indicate a diagnosis of congenital hypothyroidism without goiter.
Congenital hypothyroidism without goiter is a condition characterized by an underactive thyroid gland present at birth, leading to insufficient production of thyroid hormones. This deficiency can result from various etiologies, including genetic mutations affecting thyroid hormone synthesis or developmental anomalies of the thyroid gland. Unlike congenital hypothyroidism with goiter, this condition does not present with an enlarged thyroid gland. Symptoms may include lethargy, poor feeding, hypotonia, and developmental delays. Early diagnosis and treatment are crucial to prevent intellectual disability and growth retardation. Screening for congenital hypothyroidism is typically performed shortly after birth through blood tests measuring thyroid-stimulating hormone (TSH) and thyroxine (T4) levels. Treatment usually involves lifelong thyroid hormone replacement therapy, which helps normalize growth and cognitive development. Regular monitoring of thyroid function tests is essential to ensure appropriate dosing and management of the condition.
Detailed growth and developmental assessments, thyroid function test results, and treatment plans.
Newborn screening results indicating elevated TSH, follow-up evaluations for developmental milestones.
Documentation must clearly indicate the absence of goiter and the specific treatment regimen.
Comprehensive thyroid function test results, genetic testing results if applicable, and treatment response evaluations.
Management of patients with congenital hypothyroidism requiring adjustments in hormone replacement therapy.
Endocrinologists must document the rationale for treatment adjustments based on lab results.
Used to monitor thyroid function in patients diagnosed with congenital hypothyroidism.
Document the reason for the test and the patient's treatment plan.
Endocrinologists should ensure that TSH levels are monitored regularly to adjust treatment.
Early diagnosis is crucial as it allows for timely treatment with thyroid hormone replacement, which can prevent severe developmental delays and intellectual disabilities.
