Pch-engoct2004

Parents’ Guide
Primary Congenital
Hypothyroidism
California Department of Health Services
Genetic Disease Branch
www.dhs.ca.gov/gdb
To Parents:
California State Law requires that all babies have the newbornscreening test before leaving their hospital of birth. A few drops ofblood were taken from your baby’s heel. One of the tests was forprimary congenital hypothyroidism.
Your health care provider may have told you your baby has primarycongenital hypothyroidism. Babies can look healthy at birth and stillhave this disorder, but babies, who are not treated, often haveserious and permanent health problems. With early and ongoingcare, your baby should develop normally both physically andmentally.
This booklet was written to help parents learn more about thisdisorder. Use this booklet to learn more about how to care for yourchild.
For more information about the Newborn Screening Program orprimary congenital hypothyroidism visit our website atwww.dhs.ca.gov/gdb then click on Newborn Screening.
What Is Primary Congenital Hypothyroidism?
Primary congenital hypothyroidism occurs when there is adeficiency of the thyroid hormone caused by the failure of the thyroidgland to develop normally. As a result, the thyroid gland does notproduce enough thyroid hormone to meet the body’s needs.
“Congenital” means that it is present at birth.
Primary congenital hypothyroidism is fairly common, occurring oncein every 2,700 newborn babies within California. About 200 babiesin California are born with this disorder each year. It may be foundshortly after birth through routine screening and follow-up testingrequired by California law. Treatment must be started within the firstweeks of life of infants to prevent development of mental retardation,learning disabilities, and/or growth delays. This condition is easilytreated by daily thyroid hormone medicine taken by mouth.
How Does Thyroid Hormone Work?
The main thyroid hormones aremade in the thyroid gland. Thethyroid gland is normally locatedin the neck. Hormones are specialchemicals that circulate throughoutthe body and affect the functioningof other organs. The thyroid hormones are extremely importantin the development of the brainand central nervous system, forthe growth of the bones andmuscles as well as maintainingbody temperature and metabolism. Without thyroid hormones,physical growth, mental development, and other bodily functions slowdown or stop.
Why Doesn’t The Thyroid Gland Work?
A baby’s hypothyroidism is usually due to a problem with the thyroidgland. The gland may be too small, located in the wrong place, orabsent altogether. The existing gland does not make enough thyroidhormone or may not make any at all. In some cases, the thyroid glandappears normal but is unable to produce hormones normally. In rareinstances, congenital hypothyroidism may not be permanent. Instead, itmay be transient (temporary) and last only a few weeks or months. Thistransient problem may be due to substances from the mother’s bloodcalled antibodies, that block the baby’s thyroid gland from working.
Occasionally, the problem is caused by medications given to the mother.
How Is Primary Congenital Hypothyroidism Diagnosed?
The screening test for primary congenital hypothyroidism measures acertain hormone Thyroid Stimulating Hormone (TSH). This hormonestimulates the thyroid gland to make more thyroid hormone. If thishormone is elevated on the newborn screening test, it means that furthertests need to be done. In addition to repeating the TSH filter paper test,testing of the specific thyroid hormones and other indicators of thyroidfunction are done to confirm the diagnosis. Your baby’s doctor will takea very careful history, examine the baby, and may also order other tests,such as a thyroid scan and or bone age (X-ray). In infants withsuspected transient disease, antibody tests in maternal/mother’s bloodmay be ordered.
What Is The Treatment For Primary Congenital
Hypothyroidism?
Once this disorder is diagnosed, the doctor will prescribe thyroidhormone for the baby. Thyroid hormone, also called thyroxineor T , comes in tablets. The baby’s doctor will tell you how much of the tablet or how many tablets to give your baby each day. It is veryimportant that the baby receive enough thyroid hormone to growand develop normally but not more than is needed. It is important tofollow the doctor’s instruction carefully.
With early and ongoing treatment, your baby should develop normally,both physically and mentally. In the majority of cases of primarycongenital hypothyroidism, the treatment is lifelong. Blood tests will bedone on a regular basis to determine if your child is getting the rightamount of thyroid hormone. Remember that your baby is an individualand will develop his or her own growth pattern and intellectual ability.
As he/she gets older her dose may change.
How To Give Thyroid Hormone
Be sure to give your baby thyroid hormone medicine every day.
Only thyroxine tablets should be used. According to the America
Academy of Pediatrics recommended guidelines, there are no Food
and Drug Administration-approved liquid forms of thyroxine.
Thyroxine suspensions prepared by individual pharmacists may lead
to unreliable dosage.
Give the tablets at the same time every day and make it a partof your routine so you do not forget.
With newborn infants, the tablets need to be crushed and given verycarefully. When your infant is older, it will be easier to give. Thereare several ways you can give the thyroid medicine.
For the Infant:
Crush tablet(s) between two spoons then mix with a small amount of
water, breast milk or formula* that does not contain soy or iron.
Give this mixture through a dropper on the side of the
mouth between the cheek and gum. To be sure that
all of the medicine is taken, draw up some water into
the dropper after you have given the crushed tablet(s)
and give this water to your baby. Use room
temperature water. DO NOT mix with hot water.
Wash hands well. Finely crush the tablet(s) betweentwo spoons. Moisten your fingertips with water anddip into crushed tablet(s). Let your baby suck the crushed tablet(s) offyour finger and continue to dip your finger in the crushed tablet(s) untilno powder is left. Offer the baby a small amount of water after givingthe tablet(s).
For the Older Infant and Toddler:
When your baby is on solid foods, you may want to try one of thesemethods.: Place tablet(s) on a spoon and add a few drops of waterto soften them. After a few minutes, add a few drops of water on the spoon then feed this mixture to your baby.
Mix the crushed tablet(s) in a small amount ofbaby cereal, applesauce, breast milk or formula*that does not contain soy or iron. Always keep thisseparate from the rest of your baby’s food. For example,if your baby is taking two tablespoons of cereal in themorning, mix the crushed thyroid tablet(s) with a ½ teaspoonof cereal in a separate dish. Give this portion to your baby.
Some doctors recommend waiting at least one half hour aftergiving the tablet(s) before feeding your baby the restof the meal. That way, you will know that your babyhas received all the hormone.
*Talk with your doctor before mixing with soy-based formula or formula that contains iron.
DO NOT put the tablet(s) into a whole
serving of the baby’s food. DO NOT
put the tablet(s) in the baby’s bottle. The
baby may not eat or drink the whole amount.
When your child is older, he or she may take the wholetablet(s) by mouth. Since they are so small, they will either melt orbe swallowed whole. The tablet(s) do not taste bad; theyhave very little taste. It is perfectly all right for the child tochew the tablet(s). Many children take thyroid tablet(s) in themorning just after they wake up and before breakfast.
Other Recommendations
1. Some doctors recommend waiting at least one half hour after giving the tablet before feeding your baby solid foods. Wait an hour if your baby has a tendency to spit up the feedings.
2. If your baby spits up just after giving the medicine, then 3. Some foods and supplements may interfere with the absorption of thyroid hormone medications* when taken together. Talk with yourbaby’s doctor about any foods to avoid.
4. Keep a record of when you give the medicine. You can mark a calendar when the tablets have been given. If you forget to givea dose on one day you can givetwice the dose the next day. Butnever give more than twice the dose.
Too much medicine can be just asdangerous as too little.
*See References on page 9 for actual articles 5. Call your doctor or nurse if your baby has any of the following symptoms for more than 24 hours:♦ diarrhea♦ shorter sleeping periods ♦ irritability or nervousness, or♦ if there is anything else that worries you.
6. Always keep an extra supply of the tablets for emergencies.
Keep extra medicine in your diaper bag and with youremergency/earthquake supplies. Do not forget to check theexpiration date.
7. Always examine the tablets when the prescription is filled.
Note the color and the number on the tablet to be sure it isthe right dose.
8. Be sure to bring the bottle of thyroid tablets with you to each Follow-Up
Your doctor will check the blood thyroid hormone levels on aregular basis. These blood tests help the doctor to adjust themedicine so your baby will get the correct amount. The dose maybe adjusted as your baby grows.
Although it is not always possible to determine the cause ofcongenital hypothyroidism at the time of diagnosis, your doctor willnot want to delay treatment. Further studies may be done after thechild is a year of age. These studies may include blood hormonetests, bone age test, thyroid scans, and biochemical or genetic tests.
If you have any questions in the meantime, please call the person listed below.
Glossary
Bone age - An X-ray of the hand or knee bone to measure growth.
Hormone - A chemical with a specific effect on other organs. A
hormone is produced by a gland in the body.
Thyroid gland - An internal organ in the body in the front part of the
lower neck. It makes thyroid hormones that control many of the body’s
functions.
Thyroid scan - A test that is used to find the presence and location of
the thyroid gland.
T - Another name for thyroxine.
Thyroxine - The main hormone produced by the thyroid gland (also
called T ).
Thyroid Stimulating Hormone (TSH) or thyrotropin - A hormone
produced by the pituitary gland that stimulates the thyroid gland to
produce T .
Parent Resource
The Magic Foundation, www.magicfoundation.org, or parent help line at 800-3 MAGIC 3 (800-362-4423).
References for Physicians
1. American Academy of Pediatrics Section on Endocrinology and Committee on Genetics, and American Thyroid AssociationCommittee on Public Health Newborn Screening for CongenitalHypothyroidism: Recommended Guidelines Pediatrics 91 (6):1203-1209. Http://aappolicy.aappublications.org/cgi/reprint/pediatrics; 91/6/1203.
2. Jabbar MA, Larrea J, Shaw RA. Abnormal Thyroid Function Tests in Infants with Congenital Hypothyroidism:The Influence of Soy-based Formulas. J. Am Coll Nutr1997; 16:280-2.
3. Cambell NR, Hasinoff BB, Stalts H, et al. Ferrous Sulfate Reduces Thyroxine Efficacy in Patients with Hypothyroidism.
Ann Intern Med 1992; 117: 1010-3.
Other Resources for Physicians
1. Singh N, Singh PN, Hershman JM. Effect of Calcium Carbonate on the Absorption of Levothyroxine. JAMA2000 Jun 7; 283 (21): 2822-5.
2. Liel Y, Harman-Boehm I, Shany S. Evidence for Clinically Important Adverse Effect of Fiber-enriched Diet on theBioavailability of Levothyroxine in Adult HypothyroidPatients. J Clin Endocrinolo Metab 1996; 81: 857-9.
Type in Levothyroxine for search then click go. Click onpatient handout on the left side.
Acknowledgements
We would like to thank the following people for their help in providinginput into this revised booklet: * California Newborn Screening Area Service Centers medical directors, project directors, follow-up coordinators and otherstaff * Parents of children with primary congenital hypothyroidism * California Children’s Services Metabolic Centers medical directors and other endocrine specialists California Department of Health Services
Genetic Disease Branch
Genetic Disease Branch, Newborn Screening Program, revised October, 2004

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