congenital hypothyroidism in infants

no snappy song lyrics to introduce this topic. it is one that is near and very dear to my heart, though. in september, my daughter( who is hypothyroid) had her first baby, a beautiful 6lbs.7oz boy. she took wonderful care of herself during her pregnancy- exercise, good nutrition and monthly trips to our endocrinologist for thyroid blood work. everything looked good. my daughter had to have an emergency c-section delivery, but she and the baby did well and there were no problems associated with the procedure.

as part of newborn screening now, this was not done when my two children were born, my grandson was tested for congenital hypothyroidism. this was done on their last day of hospital stay, and we had no reason to expect anything was amiss. my daughter got a call from the hospital lab( sort of unusual, i think) and they said to bring the baby back to the lab IMMEDIATELY to retest for hypothyroid disease. it seems that his TSH was 155! yes, 155. i did not accidentally put an extra 5 in there. the second time they tested him( we were all hoping for lab error) it was so large that they could not measure it. so, at 1 week of age, my grandson was started on ( remember he only weighed about 7 pounds at this time) a dose of 37.5mcg of synthroid! after a few days, he was retested and his TSH had dropped dramatically to around 7.

my daughter took him back to get his blood work done again after about a week and a half on the 37.5mcg dose ,because he was exhibiting some HYPERthyroid symptoms( excessive crying, irritability,extreme hunger- even after nursing pretty much non-stop) . after another round of blood work,  they reduced his dosage of the synthroid to 25mcg- which is his dose now, at about six weeks of age. his last blood work is as follows: TSH is suppressed at 0.1  free t4 is a little high at 1.92 and total t4 is 10 which is great, according to the physician. oh, i might add that just as soon as the pediatrician saw his initial blood work, a pediatric endocrinologist from Duke children's hospital was called in. my grandson has seen the pediatric endos several times. one of the doctors emails my daughter on a fairly regular basis, and my daughter can get in touch with her anytime she needs to. also, the doctor has written a standing blood work order so that if my daughter ever feels like my grandson is acting HYPER or HYPO she can just take him to the lab and have his blood drawn. the results are back in a few hours, not days, and the doctor gets the results, makes a change if necessary, and emails my daughter back. i can not say enough about how good these pediatric endocrinologists have been!

now, why is this important? well, if a child is diagnosed with congenital hypothyroidism at birth and treated within the first month of life( my grandson was treated at one week of age) then all is well. children who are diagnosed early have an excellent prognosis.  i should add here that the dose of thyroid supplement must be correct- it has to a large enough dose to be effective.  the baby may  be somewhat hyperthyroid now, and will be a little slow to put on body fat. my grandson is in the " normal" range for head circumference and length, but has a little weight catching up to do. at six weeks of age, my grandson weighs 9 pounds, 10oz. which i think is great. he is starting to put on a little baby fat that is so cute, but i do not think that he will ever be a chunky baby.  if a baby is NOT  diagnosed at birth, or before say, one month of age, the baby will have mental and physical retardation.

if you read an article on congenital hypothyroidism in infants( there is a really good one from the american academy of pediatrics- i can send a link if anyone is interested) it is stated that the overall incidence is from 1 in 3000 to 1 in 4000 births. third world countries, who do not screen for CH or may have nutritional deficiencies of selenium,iron and most importantly,iodine have a higher incidence of CH. the ratio between male and female babies is 1 to 2.

what causes CH? well, there are two kinds of CH- permanent( the most common) and transient. permanent CH is most commonly caused by a defective or abnormal development of the thyroid gland( also known as dysgenesis) about 10% of babies with CH can not synthesize or secret thyroid hormone. there may also be pituitary or hypothalamus problems.

in transient CH, the causes may be insufficient intake of iodine by the mother, TSH receptor blocking antibodies in a pregnant woman who has an autoimmune thyroid disease, or if the mother takes antithyroid drugs( if she is hyperthyroid) while pregnant.

the standard of practice, now anyway, is to treat the infant until he/she is about 3 years of age. at that time, the thyroid hormone can be stopped or tapered down, and a scan can be performed to determine the state of the thyroid gland. if it is discovered that the child's thyroid gland is ectopic or absent, then a diagnosis of permanent CH is established, and the child will be treated for hypothyroidism for life.

it is important to understand that while more serious childhood diseases certainly occur, CH must be treated early, taken seriously by parents and health care providers, treated adequately, and monitored closely. having your first  baby, having to have a c-section delivery and finding out that your baby has CH has been quite challenging for my daughter as it would be for anyone! but i am so proud of my daughter and son-in-law for the way they have dealt with this issue and for the love and care that they give to my grandson every single day. being informed is always important for good health/good outcomes. my daughter found a website, recommended by our endocrinologist, which is written by a woman who has two sons- BOTH with CH! what are the odds of that happening? this woman writes intelligently, honestly and provides good information. she has met with my daughter ( oddly enough they only live about 15 minutes apart) and was able to answer some of her questions. my daughter was able to see that her sons are intelligent, functioning children and that was very reassuring. if anyone is interested, i can message you the website on infants/children with CH.