Summary about Disease
Congenital hypothyroidism (CH) is a condition present at birth in which the thyroid gland does not produce enough thyroid hormone. Thyroid hormone is crucial for normal brain development and body growth. If untreated, CH can lead to intellectual disability and developmental delays. It's typically detected through newborn screening programs and is treatable with medication.
Symptoms
Many newborns with CH show no symptoms at birth. When symptoms do appear, they can be subtle and may include:
Prolonged jaundice (yellowing of the skin and eyes)
Constipation
Poor feeding
Lethargy (sleepiness)
Hypotonia (floppy muscle tone)
Large tongue
Umbilical hernia
Hoarse cry
Puffy face
Cold and mottled skin
Slow growth
Causes
The most common causes of CH are:
Thyroid dysgenesis: This means the thyroid gland is missing, underdeveloped, or abnormally located. This is the most frequent cause.
Thyroid dyshormonogenesis: The thyroid gland is present but cannot produce thyroid hormone properly due to a genetic defect in the hormone production pathway.
Pituitary or hypothalamic hypothyroidism (Central Hypothyroidism): Less common. Problems with the pituitary gland or hypothalamus (which control the thyroid) can cause the thyroid to not function properly.
Iodine deficiency: Rarely in developed countries but possible in areas with severe iodine deficiency.
Maternal medications: Some medications taken by the mother during pregnancy can temporarily affect the baby's thyroid function.
Medicine Used
The primary medication used to treat congenital hypothyroidism is levothyroxine, a synthetic form of thyroid hormone (T4). The dosage is carefully determined based on the baby's weight and thyroid hormone levels and is monitored regularly.
Is Communicable
No, congenital hypothyroidism is not communicable. It is not an infectious disease and cannot be spread from person to person. It is typically caused by genetic or developmental factors.
Precautions
Since CH is not contagious, there are no precautions to prevent its spread. Early detection through newborn screening and prompt treatment with levothyroxine are the key strategies to prevent complications. For the mother, taking prescribed medications as directed during pregnancy, following a healthy diet with adequate iodine intake (unless advised otherwise by a doctor), and attending regular prenatal checkups are important.
How long does an outbreak last?
Congenital hypothyroidism is not an outbreak-related disease. It's a condition present from birth. If treatment is started early and managed well, the symptoms can be controlled and the child can develop normally. Treatment is usually lifelong.
How is it diagnosed?
Newborn Screening: This is the primary method of diagnosis. A blood sample is taken from the baby's heel shortly after birth to measure thyroid hormone (T4) and thyroid-stimulating hormone (TSH) levels.
Follow-up Blood Tests: If the newborn screening results are abnormal, further blood tests are performed to confirm the diagnosis and determine the cause.
Thyroid Scan or Ultrasound: In some cases, imaging studies of the thyroid gland may be performed to assess its size, shape, and location.
Timeline of Symptoms
The timeline of symptoms varies. Many infants with CH are asymptomatic at birth. If symptoms develop, they may appear within the first few weeks or months of life. The severity of symptoms depends on the degree of thyroid hormone deficiency. Untreated CH can lead to developmental delays that become increasingly apparent as the child grows older.
Important Considerations
Early Diagnosis is Crucial: Prompt diagnosis and treatment are essential to prevent irreversible brain damage and developmental delays.
Lifelong Treatment: Treatment with levothyroxine is usually lifelong and requires regular monitoring of thyroid hormone levels.
Adherence to Medication: It is vital to administer the prescribed dosage of levothyroxine consistently and as directed by the physician.
Regular Follow-up: Regular check-ups with an endocrinologist are necessary to monitor thyroid function, adjust medication dosages as needed, and ensure optimal growth and development.
Impact on Development: Early intervention and consistent treatment can significantly improve the child's developmental outcomes.