What is congenital hypothyroidism?

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Congenital hypothyroidism (CH) is a condition present at birth where the thyroid gland is either underdeveloped, absent, or does not produce enough thyroid hormone, which is critical for growth, brain development, and metabolism. It is one of the most common preventable causes of intellectual disability and growth failure if not treated early. This condition affects approximately 1 in every 2,000 to 4,000 newborns globally, and early detection through newborn screening programs has significantly improved outcomes for affected infants.

Causes of Congenital Hypothyroidism

There are several underlying causes of congenital hypothyroidism, and these generally fall into two main categories: thyroid dysgenesis and thyroid dyshormonogenesis.

Thyroid Dysgenesis (80-85% of cases):
- Thyroid agenesis: In this case, the thyroid gland is completely absent. This is the most severe form of congenital hypothyroidism.
- Thyroid hypoplasia: The thyroid gland is present but is underdeveloped and unable to produce enough thyroid hormone.
- Thyroid ectopy: In this case, the thyroid gland forms in the wrong location (usually in the neck), and while it may produce some thyroid hormone, it typically functions below normal levels.
Most cases of thyroid dysgenesis occur sporadically, meaning they do not follow a predictable genetic pattern and are not inherited. However, environmental factors or genetic mutations may sometimes play a role in the abnormal development of the thyroid gland.
Thyroid Dyshormonogenesis (10-15% of cases):
- This condition occurs when the thyroid gland is structurally normal but unable to produce enough thyroid hormone due to defects in the enzymes or proteins involved in thyroid hormone synthesis. Unlike thyroid dysgenesis, dyshormonogenesis is usually inherited in an autosomal recessive manner, meaning both parents must carry a copy of the defective gene for the child to be affected.
Other Causes:
- Maternal iodine deficiency or excess: Iodine is essential for thyroid hormone production, and insufficient iodine intake during pregnancy can lead to congenital hypothyroidism. Conversely, excessive iodine intake in mothers can also impair thyroid function in the fetus.
- Maternal thyroid disease: If a mother has an autoimmune thyroid condition, such as Hashimoto’s thyroiditis, her antibodies may cross the placenta and interfere with the development or function of the baby’s thyroid gland.
- Medications: Certain medications taken by the mother during pregnancy, such as anti-thyroid drugs used to treat hyperthyroidism, may affect the baby’s thyroid function.

Symptoms of Congenital Hypothyroidism

Symptoms of congenital hypothyroidism in newborns are often subtle or absent at birth, which is why early detection through screening is so important. However, if left untreated, the following symptoms may develop over time:

Jaundice: Prolonged yellowing of the skin and eyes due to a delay in the breakdown of bilirubin in the body.
Poor feeding and weight gain: Babies with congenital hypothyroidism may struggle with feeding, have low energy, and may fail to thrive or grow at a normal rate.
Constipation: Digestive motility can slow down, leading to infrequent bowel movements.
Large, protruding tongue: The condition may cause an enlarged tongue, which can affect feeding and breathing.
Puffy face and bloated appearance: Due to the retention of fluids (edema), a baby with hypothyroidism may have a swollen face and hands.
Cold extremities: Hypothyroidism can make it difficult for the body to regulate temperature, leading to cold hands and feet.
Hoarse cry: The baby may have a deep or hoarse cry due to swollen vocal cords.
Delayed motor development: Sluggish movement, poor muscle tone (hypotonia), and delayed achievement of developmental milestones.
Sleepiness or lethargy: A baby with congenital hypothyroidism may sleep excessively and seem unusually calm or lethargic.

Long-Term Consequences if Left Untreated

Untreated congenital hypothyroidism can have serious, irreversible effects on a child’s physical and mental development:

Intellectual disability (Cretinism): One of the most significant risks of untreated congenital hypothyroidism is intellectual disability. Thyroid hormone is critical for brain development, especially in the first few months of life. Without enough thyroid hormone, cognitive function can be severely impaired.
Growth failure: Children with untreated congenital hypothyroidism will experience stunted physical growth, often resulting in short stature or dwarfism.
Delayed or absent puberty: As children grow older, untreated hypothyroidism can interfere with the normal development of secondary sexual characteristics.
Hearing loss: Sensorineural hearing loss can occur in children with untreated hypothyroidism, affecting their ability to develop language and communication skills.

Diagnosis of Congenital Hypothyroidism

In many countries, congenital hypothyroidism is routinely screened for through newborn screening programs, typically conducted within the first 24 to 48 hours after birth. A small blood sample is taken from the baby’s heel (heel prick test) to measure levels of thyroid-stimulating hormone (TSH) and free thyroxine (T4).

If TSH levels are elevated, it indicates that the thyroid gland is not producing enough thyroid hormone, and the brain is sending extra signals to stimulate it. This is usually the first indication of hypothyroidism.
Low levels of T4 (thyroid hormone) confirm the diagnosis.

Early detection through these screening tests has dramatically reduced the rates of cognitive impairment and developmental delays associated with congenital hypothyroidism.

Treatment of Congenital Hypothyroidism

Treatment for congenital hypothyroidism is simple and highly effective if initiated early. The primary treatment involves daily thyroid hormone replacement therapy using a synthetic form of thyroxine called levothyroxine. The goal of treatment is to normalize thyroid hormone levels in the blood, thereby supporting normal growth, brain development, and metabolic processes.

Dosage: The dosage of levothyroxine is carefully tailored to the infant’s weight, age, and thyroid hormone levels. Regular monitoring and blood tests are required to ensure the correct dosage is maintained as the child grows.
Administration: The medication is usually given in liquid form or as a crushed tablet mixed with water or milk. It’s important that parents give the medication consistently at the same time each day for optimal effect.
Lifelong or temporary treatment: In some cases, the condition may resolve as the child grows, and the thyroid begins to function on its own. However, many children will require lifelong thyroid hormone replacement.

Prognosis

The prognosis for babies diagnosed and treated early for congenital hypothyroidism is excellent. With appropriate and timely treatment, most children will grow and develop normally, without any long-term complications. They typically lead healthy lives with regular monitoring to ensure thyroid hormone levels remain within the normal range.

Summary

Congenital hypothyroidism is a condition where the thyroid gland is underdeveloped or dysfunctional at birth, leading to insufficient production of thyroid hormone. This hormone is crucial for normal brain development and growth, and without early detection and treatment, congenital hypothyroidism can result in significant intellectual and physical disabilities. However, thanks to newborn screening programs and effective treatment with levothyroxine, most affected children can develop normally with no long-term effects.

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