Congenital Hypothyroidism: Meaning, Causes, Symptoms, Treatment

Written by Medicover Team and Medically Reviewed by Dr Purva Shripal Jain , Pediatricians

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Congenital hypothyroidism, also known as Cretinism and Neonatal hypothyroidism, refers to the condition present at birth where a baby's thyroid gland does not make enough thyroid hormone. This hormone is very important for growth, brain development and overall health. Without enough thyroid hormone, babies may face delays in growth and learning if the condition is not treated early.

Newborn screening tests usually check for congenital hypothyroidism soon after birth. With early diagnosis and proper treatment, most children with this condition can grow and develop normally.

Congenital hypothyroidism affects about 1 in every 3,000 to 4,000 newborns and it is seen more often in female babies than in male babies.

Most babies with this condition need lifelong thyroid hormone replacement medicine, but in some cases, the problem is temporary and improves within a few weeks or months. With early treatment, children with congenital hypothyroidism can grow, learn and live healthy, normal lives.

Congenital Hypothyroidism Symptoms

Many babies with congenital hypothyroidism may not show obvious signs at birth, which is why newborn screening is so important. However, some symptoms may appear in the first few weeks or months of life.

Common symptoms in babies may include:

• Sleepiness or low energy
• Poor feeding or difficulty sucking
• Constipation
• A puffy face, swollen tongue or large soft spot on the head
• Prolonged jaundice (yellowing of skin and eyes)
• Slow growth and poor weight gain
• Dry skin and hoarse cry
• Cold hands and feet

If untreated, congenital hypothyroidism can lead to delayed growth and developmental problems. Early treatment helps prevent these complications.

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Congenital Hypothyroidism Causes

Congenital hypothyroidism happens when a baby's thyroid gland does not work properly or is missing. This can occur due to several reasons:

• Thyroid gland not formed (agenesis): In some babies, the thyroid gland does not develop at all.
• Small or underdeveloped thyroid (hypoplasia): The gland is present but too small to make enough hormone.
• Ectopic thyroid: The gland develops in an unusual location and does not function properly.
• Problems making thyroid hormone: Sometimes the gland is present, but cannot produce or release enough hormone.
• Temporary hypothyroidism: In some cases, the condition is caused by the mother's medications, antibodies or iodine levels and it improves on its own.

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Risk Factors for Congenital Hypothyroidism

Certain factors may increase the chance of a baby being born with congenital hypothyroidism:

• Female babies have a higher risk than male babies.
• Family history of thyroid disease or autoimmune conditions.
• Babies born prematurely or with low birth weight.
• Genetic conditions that affect hormone production.
• Mothers with iodine deficiency, thyroid disease or who used certain medications during pregnancy.

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Complications of Congenital Hypothyroidism

If congenital hypothyroidism is not diagnosed and treated early, it can cause serious health problems:

In babies and children:

• Delayed growth and short height
• Intellectual and developmental delays
• Speech and learning difficulties
• Problems with movement and coordination

In later life (if untreated):

• Permanent intellectual disability
• Delayed puberty and infertility
• Increased risk of other health problems like heart issues

With early treatment, most of these complications can be prevented and children can grow and live normal lives.

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When to See a Doctor for Congenital Hypothyroidism?

See a doctor right away if your baby's newborn screening test shows low thyroid hormone levels. Even if the baby looks healthy, treatment should start as early as possible.

You should also consult a doctor if you notice signs such as:

• Poor feeding or difficulty sucking
• Unusual sleepiness or low energy
• Constipation that doesn't improve
• Puffy face, swollen tongue or hoarse cry
• Slow growth or delayed development

Regular follow-ups are very important for babies diagnosed with congenital hypothyroidism to adjust medicine and ensure healthy growth.

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Congenital Hypothyroidism Diagnosis

Most babies are checked for congenital hypothyroidism through a newborn screening test, which is done within the first few days of life. This test helps detect low thyroid hormone levels early, even before symptoms appear.

Steps in diagnosis include:

• Newborn blood test: A few drops of blood from the baby's heel are tested for thyroid hormone (T4) and thyroid-stimulating hormone (TSH) levels.
• Confirmatory blood tests: If the screening shows abnormal results, further blood tests confirm the diagnosis.
• Imaging tests: Ultrasound or a thyroid scan may be done to see if the thyroid gland is present, small or located in an unusual place.

Early diagnosis is very important because starting treatment in the first weeks of life can prevent growth and developmental problems.

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Management and Treatment of Congenital Hypothyroidism

The main treatment for congenital hypothyroidism is thyroid hormone replacement therapy. This provides the body with the hormone that the thyroid gland cannot produce.

Key points in treatment and management:

• Medication: Babies are usually given levothyroxine (a synthetic thyroid hormone) once a day. It comes as a small tablet that can be crushed and mixed with water, breast milk or formula.
• Lifelong treatment: Most children need medicine throughout life, though some with temporary hypothyroidism may stop treatment later if their thyroid starts working normally.
• Regular check-ups: Doctors monitor thyroid hormone levels through regular blood tests, especially in the first few years, to adjust the dose as the child grows.
• Normal growth and development: With proper treatment, children can grow, learn and live just like other children.

Parental consistency in giving medicine daily and attending follow-up visits is the most important part of successful management.

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Can Congenital Hypothyroidism Be Prevented?

Congenital hypothyroidism cannot always be prevented, but some steps can help lower the risk:

• Pregnant women should get enough iodine through food or supplements (as advised by a doctor).
• Regular check-ups during pregnancy help manage thyroid problems in mothers.
• Women with thyroid disease should take proper treatment before and during pregnancy.
• Avoid harmful substances like certain medicines, toxins or radiation while pregnant.
• Newborn screening is the best way to detect the condition early and start treatment.

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Conclusion

Congenital hypothyroidism is a serious condition, but with early diagnosis and daily thyroid medicine, babies can grow and develop normally. Regular check-ups and proper treatment help prevent long-term problems and let children live healthy lives.

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