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Congenital Hypothyroidism | Cretinism - Frequently Asked Questions

Q: Which doctor should I consult if I want to rule out congenital hypothyroidism in my baby?

A: You should see a pediatric endocrinologist. The diagnosis should be made before 2 weeks of age to initiate therapy immediately.

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Q: I am pregnant. How can I prevent congenital hypothyroidism in my baby?

A: Take iodine supplemented salt to prevent iodine deficiency. If you are taking any drugs for thyroid disease or any other conditions, consult an endocrinologist for further advice.

Q: My first child was diagnosed with congenital hypothyroidism. What are the chances that another child will be affected similarly?

A: 

  • Most cases of congenital hypothyroidism are caused by dysgenesis (defective development) and the risk of having another child with this kind of CHT is low.
  • The more uncommon type, is due to dyshormonogenesis. The gland is in the normal position but does not produce thyroxine normally because of impairment in one of the several steps of synthesis. This type can be inherited and there is a risk that the baby’s siblings will also be affected.
It is recommended that you seek the advice of a genetic counselor if an inheritable disorder is suspected.

Q: My son was diagnosed with congenital hypothyroidism at birth. Should I be worried?

A: If the condition was diagnosed early, it usually leads to a good outcome. Newborns diagnosed and treated within the first month or so usually have normal intelligence

However, as a group such children tend to show lower academic performance compared to siblings and mild learning disabilities may occur in some.

Continue to have regular check-ups with the pediatric endocrinologist and do thyroid hormone measurements periodically. Thyroid hormones have to be taken for life.

Q: Are there any long term complications of taking thyroid hormones?

A: The hormone in the tablet is identical to that naturally occurring in the body. What is being administered is only replacement therapy.

In general, side effects occur only if the dose is too high, which can avoided by checking blood levels on a regularly.


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