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What Is Congenital Hypothyroidism?

Originally written 4/14/18

I guess I should give you a run down on this disease. We have gotten information from multiple sources--mainly the internet, our pediatrician, and our endocrinologist. Approximately 1 in 3000-4000 babies are born with Congenital Hypothyroidism, and it is more common in girls than boys. This is caused by either a malfunctioning, malformed, or non existent thyroid. While there are a wide range of symptoms in newborns with hypothyroidism, some show no symptoms at all. Common symptoms include excessive sleepiness, difficulty (decreased) feeding, and jaundice. The diagnosis is confirmed by a blood test that is done while the baby is still in the hospital. Apparently this is a required test in Ohio and has been for several decades.

When Hadley was first born the nurse checked her blood sugar which was very low, somewhere around 30 I think. We had to feed her formula while I was still in the recovery room to get it up to normal. We struggled with keeping her blood sugar up the entire 4 days we were in the hospital. Symptoms of low blood sugar are similar to those of congenital hypothyroidism so it never crossed anyone's mind that it was anything other than that.

Sometimes a diagnosis of congenital hypothyroidism is only temporary. A newborn's thyroid function can be suppressed because of his or her mother's own thyroid issues. When this is the case, the baby's TSH (Thyroid Stimulating Hormone) is elevated at birth and normalizes pretty quickly. Normal/expected TSH level 2-4 days after birth is less than 10 mU/L. If an infant has a slighted elevated TSH (20-40), repeat blood work is needed to make a diagnosis. If TSH is over 40, a diagnosis of congenital hypothyroidism is made.

Just so you have a frame of reference, Hadley's TSH level 2 days after she was born was over 1100 mU/L.

As long as congenital hypothyroidism is diagnosed with in the first 2-4 weeks of birth and treatment is started there is no evidence of any long-term deficits. Otherwise, left untreated, this disease can cause long-term neurological problems including learning disabilities and mental retardation. We were told by our endocrinologist that an ultrasound of the neck can confirm whether or not a thyroid gland is present. She said that this test is no longer indicated and not often ordered since treatment is the same either way. Hadley was initially prescribed Synthroid 100 mcg per day. We were told this would be adjusted periodically based on her TSH and Free T4 levels. For most, daily medication is a life-long reality. Some children who were born with a malfunctioning or malformed thyroid are able to try going off of their medication at age 3. If they are able to maintain normal TSH and Free T4 levels, medication is no longer needed.

When Hadley was a few weeks old we ended up having an ultrasound of her neck done. I have never been able to make any sense of what I see on any type of ultrasound, none whatsoever. The radiologist came in the room to take a look. She took the ultrasound probe from the ultrasound tech and looked for several minutes. She changed the end of the probe to one that was a different shape and looked a while longer. At the end she looked at us and said that she didn't find any thyroid tissue.

Well. That was that. Hadley doesn't have a thyroid.

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