Health and Me

Dr. R. Kishore Kumar

Rare Diseases Day: A Parenting Guide For Congenital Hypothyroidism

Rare Diseases Day: A Parenting Guide For Congenital Hypothyroidism

Do you know that congenital hypothyroidism, a rare disability, affects about 1 in 2,500–3,000 newborns globally, but in India, the incidence is higher -- approximately 1 in 1,000 births.

India records nearly 26 million births annually, with an estimated 10,000 babies born each year with Congenital Hypothyroidism.

This means 27 babies are born every day in India, with the condition that more than one is born every hour. Early treatment within the first 2 weeks of life can ensure normal brain development, while delayed treatment can reduce IQ by 30–50 points. 

Congenital Hypothyroidism (CH) is a condition present at birth in which a baby’s thyroid gland does not produce enough thyroid hormone.

The thyroid is a small gland located in the neck. It produces a hormone called thyroxine (T4), which is essential for brain development, growth, and overall body metabolism. The thyroid hormone is especially important in the first few weeks of life. 

<ul><li>Brain development </li><li>Physical growth </li><li>Bone development </li><li>Muscle strength </li><li>Energy regulation</li></ul>

If a baby does not receive enough thyroid hormones soon after birth, it can lead to permanent intellectual disability and growth problems. 

The good news is that congenital hypothyroidism is easily detectable and completely treatable if identified early.  

<h2>What Causes Congenital Hypothyroidism? What Are The Symptoms?</h2>

Congenital Hypothyroidism may occur because: 

<ul><li>The thyroid gland is completely absent</li><li>The thyroid gland is underdeveloped</li><li>The gland is present but does not function properly</li><li>Rarely, the baby cannot produce or use the thyroid hormone correctly</li></ul>Most cases are not inherited and happen by chance.

One of the biggest challenges with Congenital Hypothyroidism is that most babies look completely normal at birth.

However, over time, some signs may appear:

<ul><li>Excessive sleepiness </li><li>Poor feeding </li><li>Constipation </li><li>Prolonged jaundice (yellowing of skin and eyes) </li><li>Hoarse cry </li><li>Large tongue </li><li>Puffy face </li><li>Cold or dry skin </li><li>Slow growth</li></ul>These symptoms usually appear after a few weeks, which may already be too late to prevent brain damage. That is why newborn screening is essential.

<h2>How Is Congenital Hypothyroidism Detected?</h2>

1. Newborn Screening Test (Heel-Prick Test)

<ul><li>This is the most important test.</li><li>A few drops of blood are taken from the baby’s heel. </li><li>It is usually done 48–72 hours after birth, but can be done soon after birth on the cord blood, too. </li><li>Test measures Thyroid Stimulating Hormone (TSH). </li><li>If TSH levels are high, it suggests that the thyroid is not functioning properly. </li><li>This test is simple, safe, quick, and affordable</li></ul>

If the screening test is abnormal, the doctor will order: 

<ul><li>Serum TSH test </li><li>Free T4 (thyroxine) level </li><li>High TSH and low T4 confirm the diagnosis</li></ul>

In some cases, imaging tests are needed. The ultrasound of the neck (less accurate) and Nuclear Medicine Thyroid scan (more accurate) may be done to check whether the gland is absent, small, or misplaced.  However, treatment should not be delayed while waiting for imaging.

When Should Treatment Start?

Treatment should begin as early as possible -- ideally within the first 14 days of life. Starting treatment within the first two weeks allows normal brain development.

Delaying treatment increases the risk of permanent intellectual disability. 

<ul><li>TSH levels </li><li>T4 levels </li><li>Baby’s growth and development</li></ul>

Initially, blood tests are done every 2–4 weeks, then less frequently as the child grows. Proper follow-up ensures the dose remains correct. Some babies may need treatment for life.

In certain cases, doctors may reassess thyroid function after 3 years of age to see whether the condition is temporary or permanent. Most children who receive early and proper treatment grow up with completely normal intelligence and physical development.

Can Congenital Hypothyroidism Be Prevented? Why Early Screening Is So Important

<ul><li>Universal newborn screening can prevent intellectual disability</li><li>Ensuring adequate iodine intake during pregnancy helps reduce risk</li><li>The key is early detection—not prevention</li></ul>

A baby with Congenital Hypothyroidism may look perfectly healthy. Without screening, diagnosis may be delayed until symptoms appear—by then, brain development may already be affected. 

With early testing  the diagnosis is simple; treatment is affordable; and outcome is excellent. But without testing:

<ul><li>Intellectual disability can occur </li><li>Growth may be affected </li><li>The child may require lifelong support</li></ul>

Congenital Hypothyroidism is one of the most preventable causes of intellectual disability in children. A small heel-prick test in the first few days of life can protect your baby’s brain forever. 

If you are expecting a baby or have a newborn, speak to your doctor about newborn thyroid screening. 

Early diagnosis. Simple treatment. Normal life. 

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Do you know that congenital hypothyroidism, a rare disability, affects about 1 in 2,500–3,000 newborns globally, but in India, the incidence is higher -- approximately 1 in 1,000 births. India records nearly 26 million births annually, with an estimated 10,000 babies born each year with Congenital Hypothyroidism. This means 27 babies are born every day in India, with the condition that more than one is born every hour. Early treatment within the first 2 weeks of life can ensure normal brain development, while delayed treatment can reduce IQ by 30–50 points. Congenital Hypothyroidism (CH) is a condition present at birth in which a baby’s thyroid gland does not produce enough thyroid hormone. The thyroid is a small gland located in the neck. It produces a hormone called thyroxine (T4), which is essential for brain development, growth, and overall body metabolism. The thyroid hormone is especially important in the first few weeks of life. The thyroid hormone helps in: Brain development Physical growth Bone development Muscle strength Energy regulationIf a baby does not receive enough thyroid hormones soon after birth, it can lead to permanent intellectual disability and growth problems. The good news is that congenital hypothyroidism is easily detectable and completely treatable if identified early.   What Causes Congenital Hypothyroidism? What Are The Symptoms?Congenital Hypothyroidism may occur because: The thyroid gland is completely absentThe thyroid gland is underdevelopedThe gland is present but does not function properlyRarely, the baby cannot produce or use the thyroid hormone correctlyMost cases are not inherited and happen by chance.One of the biggest challenges with Congenital Hypothyroidism is that most babies look completely normal at birth.However, over time, some signs may appear: Excessive sleepiness Poor feeding Constipation Prolonged jaundice (yellowing of skin and eyes) Hoarse cry Large tongue Puffy face Cold or dry skin Slow growthThese symptoms usually appear after a few weeks, which may already be too late to prevent brain damage. That is why newborn screening is essential. How Is Congenital Hypothyroidism Detected?1. Newborn Screening Test (Heel-Prick Test)This is the most important test.A few drops of blood are taken from the baby’s heel. It is usually done 48–72 hours after birth, but can be done soon after birth on the cord blood, too. Test measures Thyroid Stimulating Hormone (TSH). If TSH levels are high, it suggests that the thyroid is not functioning properly. This test is simple, safe, quick, and affordable2. Confirmatory Blood TestsIf the screening test is abnormal, the doctor will order: Serum TSH test Free T4 (thyroxine) level High TSH and low T4 confirm the diagnosis3. Thyroid Scan In some cases, imaging tests are needed. The ultrasound of the neck (less accurate) and Nuclear Medicine Thyroid scan (more accurate) may be done to check whether the gland is absent, small, or misplaced.  However, treatment should not be delayed while waiting for imaging. When Should Treatment Start? Treatment should begin as early as possible -- ideally within the first 14 days of life. Starting treatment within the first two weeks allows normal brain development. Delaying treatment increases the risk of permanent intellectual disability. Doctors will monitor: TSH levels T4 levels Baby’s growth and development Initially, blood tests are done every 2–4 weeks, then less frequently as the child grows. Proper follow-up ensures the dose remains correct. Some babies may need treatment for life. In certain cases, doctors may reassess thyroid function after 3 years of age to see whether the condition is temporary or permanent. Most children who receive early and proper treatment grow up with completely normal intelligence and physical development. Can Congenital Hypothyroidism Be Prevented? Why Early Screening Is So Important Most cases cannot be prevented. However:Universal newborn screening can prevent intellectual disabilityEnsuring adequate iodine intake during pregnancy helps reduce riskThe key is early detection—not preventionA baby with Congenital Hypothyroidism may look perfectly healthy. Without screening, diagnosis may be delayed until symptoms appear—by then, brain development may already be affected. With early testing  the diagnosis is simple; treatment is affordable; and outcome is excellent. But without testing:Intellectual disability can occur Growth may be affected The child may require lifelong supportCongenital Hypothyroidism is one of the most preventable causes of intellectual disability in children. A small heel-prick test in the first few days of life can protect your baby’s brain forever. If you are expecting a baby or have a newborn, speak to your doctor about newborn thyroid screening. Early diagnosis. Simple treatment. Normal life. 