What is Congenital Hypothyroidism?

What is the Thyroid?

The thyroid is a small, butterfly-shaped gland located in the front of the human neck. It produces hormones to control how the body uses energy. Almost every part of the body needs these hormones, including the heart, brain, muscles, and skin. The thyroid helps regulate metabolism, which is the process of turning food into energy.

hat is Hypothyroidism?

Hypothyroidism is a common condition in adult women. Hypothyroidism happens when the thyroid gland doesn't make enough thyroid hormones. When this occurs, your body slows down because it isn't getting the right amount of hormones to keep things running smoothly.

Types of Congenital Hypothyroidism

• Primary Hypothyroidism : This is the most common type due to a thyroid gland defect preventing it from producing sufficient thyroid hormones.
• Central Hypothyroidism : In this type, the problem lies in the pituitary gland or the hypothalamus, responsible for signaling the thyroid gland to produce hormones. The thyroid gland may be normal but doesn't receive the necessary signals.
• Transient Hypothyroidism : Some cases of congenital hypothyroidism are temporary and resolve independently within a few weeks or months. These cases are often caused by factors like maternal medications or iodine deficiency during pregnancy.

Congenital Hypothyroidism Symptoms

• Jaundice : The baby's skin and eyes may appear yellow due to elevated bilirubin levels.
• Puffy Face : The baby's face might appear puffy or swollen.
• Large Tongue : The tongue may be larger than usual, leading to difficulty feeding and breathing.
• Poor Feeding : Babies with congenital hypothyroidism might have difficulty latching and feeding.
• Lethargy : The baby may be excessively sleepy, have low energy, and show reduced muscle tone.
• Delayed Milestones : There might be delays in achieving developmental milestones such as lifting the head, sitting, and walking.
• Hoarse Cry : The baby's cry may be rough or weak.
• Constipation : Babies with hypothyroidism might have trouble passing stools.

Congenital Hypothyroidism Causes

• Thyroid Gland Agenesis or Hypoplasia: Occurs when the thyroid gland is missing (agenesis) or underdeveloped (hypoplasia), leading to insufficient hormone production.
• Thyroid Dysgenesis: Abnormal thyroid gland development during fetal growth can result in improper placement or shape, affecting hormone production.
• Thyroid Hormone Synthesis Defects: Genetic mutations that impact the enzymes responsible for producing thyroid hormones can lead to inadequate hormone synthesis.
• Iodine Deficiency: The thyroid requires iodine to produce hormones. If the mother has an iodine deficiency during pregnancy, it can affect the baby's thyroid development.
• Maternal Thyroid Disorders: If the mother has thyroid disorders, such as autoimmune thyroiditis or hyperthyroidism, it can influence the baby's thyroid function.
• Maternal Medications: Certain medications the mother takes during pregnancy can interfere with fetal thyroid development and hormone production.
• Central Nervous System Abnormalities: Problems with the pituitary gland or hypothalamus, which control thyroid hormone production, can lead to central hypothyroidism.
• Genetic Factors: Some forms of congenital hypothyroidism are inherited due to specific genetic mutations.

Congenital hypothyroidism vs myxedema

Congenital hypothyroidism happens when a baby is born with an undeveloped thyroid gland. The thyroid gland doesn't produce enough hormones, which are essential for growth, brain development and body energy.

Myxedema usually occurs in adults. It is a severe form of hypothyroidism when the thyroid gland doesn’t make enough thyroid hormones for a long time.

When to See a Doctor for Congenital Hypothyroidism :

• Newborn Screening : Most newborns are screened for congenital hypothyroidism shortly after birth. If the screening results are abnormal, further medical evaluation is necessary.
• Abnormal Symptoms : If you notice any of the following symptoms in your newborn, it's essential to consult a doctor :
• Jaundice (yellowing of skin and eyes)
• Swollen or puffy face
• Difficulty feeding or latching
• Lethargy and low energy
• Hoarse cry or weak voice
• Delayed developmental milestones
• Constipation
• Screening Follow-up : If your baby's initial screening results are outside the normal range, follow your healthcare provider's recommendations for additional tests and assessments.
• Medical Guidance : If you have concerns about your baby's growth, behavior, or overall health, seek medical guidance from a pediatrician or healthcare professional.
• Prompt Intervention : Early diagnosis and treatment are crucial. If congenital hypothyroidism is confirmed, starting thyroid hormone replacement therapy promptly can prevent developmental issues.
• Regular Check-ups : Once diagnosed, your baby will require regular follow-up appointments with a healthcare provider to monitor thyroid hormone levels and ensure proper growth and development.
• Expert Consultation : If your baby has a family history of thyroid disorders or congenital hypothyroidism, consult a doctor for guidance before birth or during pregnancy.

Causes of Congenital Hypothyroidism :

• Thyroid Gland Agenesis or Hypoplasia : Occurs when the thyroid gland is missing (agenesis) or underdeveloped (hypoplasia), leading to insufficient hormone production.
• Thyroid Dysgenesis : Abnormal thyroid gland development during fetal growth can result in improper placement or shape, affecting hormone production.
• Thyroid Hormone Synthesis Defects : Genetic mutations that impact the enzymes responsible for producing thyroid hormones can lead to inadequate hormone synthesis.
• Iodine Deficiency : The thyroid requires iodine to produce hormones. If the mother has an iodine deficiency during pregnancy, it can affect the baby's thyroid development.
• Maternal Thyroid Disorders : If the mother has thyroid disorders, such as autoimmune thyroiditis or hyperthyroidism, it can influence the baby's thyroid function.
• Maternal Medications : Certain medications the mother takes during pregnancy can interfere with fetal thyroid development and hormone production.
• Central Nervous System Abnormalities : Problems with the pituitary gland or hypothalamus, which control thyroid hormone production, can lead to central hypothyroidism.
• Genetic Factors : Some forms of congenital hypothyroidism are inherited due to specific genetic mutations.

Complications of Congenital Hypothyroidism :

• Intellectual and Developmental Disabilities : Thyroid hormones are crucial for proper brain development. Without adequate hormones, intellectual and developmental delays can occur.
• Growth Issues : Children with untreated congenital hypothyroidism may experience slow growth and short stature.
• Delayed Milestones : Children might experience delays in reaching developmental milestones like walking, talking, and cognitive skills.
• Speech and Language Problems : Impaired thyroid function can affect speech and language development.
• Behavioral and Emotional Challenges : Some children might exhibit behavioral and emotional difficulties due to developmental delays.
• Goiter : In some cases, the thyroid gland may enlarge (goiter) as it tries to compensate for the lack of hormones.
• Hearing Impairment : Hearing problems can occur if congenital hypothyroidism affects the development of the auditory system.
• Cardiovascular Issues : Severe and untreated hypothyroidism can lead to heart problems.

Prevention of Congenital Hypothyroidism :

Iodine Intake: Adequate maternal iodine intake during pregnancy is crucial for proper fetal thyroid development. Pregnant women should ensure they consume foods rich in iodine or take iodine supplements as their healthcare provider recommends.

• Regular Prenatal Care: Attending regular prenatal check-ups allows healthcare providers to monitor the health of both the mother and the developing fetus. Any potential thyroid issues can be addressed early.
• Avoiding Certain Medications: Pregnant women should consult their doctors before taking any medications, especially those that can interfere with thyroid function.
• Managing Maternal Thyroid Disorders: If the mother has thyroid disorders, appropriate management and treatment under medical supervision can help minimize the impact on the baby's thyroid function.

Treatment of Congenital Hypothyroidism :

• Thyroid Hormone Replacement : Daily synthetic thyroid hormones (typically levothyroxine) replace deficient hormones, adjusted based on weight and hormone levels.
• Regular Monitoring : Pediatric endocrinologist appointments monitor hormone levels, growth, and development.
• Lifelong Care : Treatment is usually lifelong, with ongoing thyroid function monitoring.
• Dosage Adjustments : Medication dosage adjusts as the child grows for optimal hormone levels.
• Developmental Support : Early intervention like speech therapy and special education supports cognitive and developmental needs.
• Parental Guidance : Educating parents on medication consistency and regular check-ups ensures overall health maintenance.

Dos and Don’ts