Congenital Hypothyroidism: Recognizing Signs and Additional Information
In the world of newborn health, one condition stands out for its prevalence and potential impact on a child's future: Congenital Hypothyroidism (CH). This condition, affecting approximately 1 in every live births worldwide, can be a preventable cause of intellectual disability.
CH is more likely to occur in females, and certain risk factors increase the likelihood of giving birth to a child with this condition. These include abnormal development (dysplasia or aplasia) of the thyroid gland, genetic conditions such as Turner syndrome and Down syndrome, a family history of thyroid disease and autoimmune conditions, and iodine deficiency.
Pregnancy-related risk factors include having Hashimoto's thyroiditis, taking medications to treat hypothyroidism during pregnancy, taking high amounts of iodine during pregnancy, and not having enough iodine during pregnancy. Having dyshormonogenesis is another risk factor, as a person can inherit it if both of their parents are carriers of the disease.
Early detection is crucial, and it's primarily achieved through newborn screening, typically performed via a blood test within the first 24–72 hours after birth to measure thyroid-stimulating hormone (TSH) and thyroxine (T4) levels. This screening is crucial because CH usually shows no signs at birth but can result in severe developmental delays and intellectual disabilities if untreated.
Treatment involves prompt initiation of levothyroxine therapy, ideally within the first few weeks of life. Early treatment can prevent complications such as impaired intellectual development, poor growth, and physical abnormalities like short stature, puffy face, and underdeveloped muscle tone. Lifelong thyroid hormone replacement and regular monitoring are required for managing the condition.
If a child has lifelong CH, they will need regular doses of levothyroxine. After the age of 3 years, a doctor may recommend stopping treatment and then testing levels. If they come back normal, the child may no longer need treatment for the condition.
In the United States, doctors typically test for CH within 1-2 days of birth by performing a heel prick to collect a few small drops of blood from the baby. The lab looks for the presence of TSH (thyroid stimulating hormone) and T4 (thyroxine). Low T4 levels combined with elevated TSH levels suggest CH.
Symptoms of CH in infants may include constipation, puffy-looking face, hypotonia (low muscle tone), large soft spots on the skull, hoarse cry, jaundice (yellowing of skin and eyes), large, thick tongue, distended stomach with umbilical hernia, feeding issues, and needing to be awakened for feeding time.
A baby can experience impaired cognitive development if they do not receive treatment for CH or if treatment starts later in life. Treatment should start within 1-2 weeks of life to decrease the risk of long-term complications.
Once the baby has reached 1 year of life, screening will repeat once every 2-4 months until around the age of 3 years. After 3 years, if the child's levels remain normal, they may no longer need regular screening.
In summary, early detection via newborn screening and immediate treatment with levothyroxine can effectively prevent the serious complications of CH, including intellectual disabilities and developmental delays. This highlights the importance of universal neonatal screening programs and close medical follow-up.
- Despite its prevalence, Congenital Hypothyroidism (CH) is a preventable cause of intellectual disability in newborns.
- CH is more common in females and can be associated with certain risk factors such as genetic conditions, family history, and iodine deficiency.
- Pregnancy-related risk factors include Hashimoto's thyroiditis, medications for hypothyroidism, high iodine intake, and iodine deficiency.
- The primary method of early detection is newborn screening, typically a blood test within the first 24–72 hours after birth.
- CH often shows no signs at birth but can cause severe developmental delays and intellectual disabilities if untreated.
- Treatment consists of prompt initiation of levothyroxine therapy, ideally within the first few weeks of life.
- Early treatment can prevent complications such as intellectual development delays, poor growth, and physical abnormalities.
- Lifelong thyroid hormone replacement and regular monitoring are necessary to manage CH.
- If a child has lifelong CH, they will likely require regular doses of levothyroxine.
- In the US, doctors test for CH within 1-2 days of birth by performing a heel prick to measure TSH and T4 levels.
- Symptoms of CH in infants include constipation, a puffy face, low muscle tone, large soft spots on the skull, a hoarse cry, jaundice, a large tongue, a distended stomach, feeding issues, and needing to be awakened for feeding.
- Impaired cognitive development can occur if CH is untreated or treatment starts later in life.
- Screening repeats every 2-4 months until around the age of 3 years, then depending on the child's levels, they may no longer need regular screening.
- The importance of universal neonatal screening programs and close medical follow-up cannot be overstated.
- Science plays a significant role in the understanding, detection, and treatment of CH.
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