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    Congential Hypothyroidism - General Information

    A Note to Parents

    You have just

    learned that your

    baby has congenital

    hypothyroidism.

    Suddenly, you have a

    lot of confusion and

    certainly may be

    frightened regarding

    the well being of

    your new infant. As

    a concerned parent,

    you probably wish to

    learn as much as you

    can about the condition and, what you and your

    health care professional can do to help your

    baby's condition as your child grows and

    develops.

    Ask Questions

    As you learn about congenital hypothyroidism,

    it is probable that you will have questions that

    may be specific to your child. Leave no

    questions unanswered, even if you think the

    questions are simple or silly. A greater

    understanding of this condition will allow you to

    provide optimal care for your child.

    What is Congenital Hypothyroidism?

    This is a disorder that affects infants from birth

    (congenital), resulting from the loss of thyroid

    function (hypothyroidism), normally due to

    failure of the thyroid gland to develop correctly.

    Sometimes the thyroid gland is absent, or

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    ectopic (in an abnormal location). As a result,

    the thyroid gland does not produce enough

    thyroxine/T4 after birth. This may result in

    abnormal growth and development, as well as

    slower mental function.

    What is the Thyroid Gland?

    The thyroid is a bow tie shaped gland located in

    the neck, below the Adam's apple. The thyroid

    gland is part of the endocrine system. This gland

    is responsible for secreting a hormone called

    thyroxine (T4) which plays a vital role in normal

    growth and development in children. This gland,like other glands in the endocrine system is

    controlled by the pituitary gland. It works very

    much like a thermostat. The brain senses the

    amount of T4 and then signals the thyroid with

    another hormone, thyroid-stimulating hormone

    (TSH) to produce more or less T4. When the

    thyroid gland produces enough T4, no extra

    stimulation is needed and the TSH level remains

    at a normal level. When there is not enough T4,

    the TSH rises. These characteristics of the T4and TSH hormones allow for screening of

    newborns to assess whether or not they have

    hypothyroidism (an under active thyroid gland).

    Why did My Child Develop Congenital

    Hypothyroidism?

    In most hypothyroid babies, there is no specific

    reason why the thyroid gland did not develop

    normally, although some of these children have

    an inherited form of this disorder. Congenital

    hypothyroidism is present in about 1/4,000

    infants in North America. There are a small

    proportion of children who have temporary

    (transient) congenital hypothyroidism for a

    Hormone Medication

    Frequently Asked Questions

    When Beginning Growth

    Hormone TherapyPart 1 Part

    2

    Transitioning from Childhood

    Growth Hormone Therapy to

    Adult

    Evaluation Process of Adult

    Growth Hormone Deficiency

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    g

    Want to learn more,

    talk/network with a parent with

    an affected child or read more

    personal stories from affected

    families? These features and

    much more are available for our

    Members areas. See also

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    period of time after birth. It is impossible to

    distinguish these transient hypothyroid babies

    from those with true congenital hypothyroidism

    and so these infants will be treated as well.

    Often, after the age of 2 or 3, children for whom

    transient or temporary hypothyroidism is

    suspected, the medication can be gradually

    discontinued for a short amount of time on a

    trial basis. The child will be retested to see if

    they can remain off medicine. This is not the

    case for true congenital hypothroidism, whereL-

    thyroxine is necessary throughout your child's

    life.

    Symptoms of Congenital Hypothyroidism

    Often these babies appear perfectly normal at

    birth, which is why screening is so vital.

    However, some may have one or more of the

    following symptoms:

    Large, despite having poor feeding habits,

    increased birth weight.

    Puffy face, swollen tongue.

    Hoarse cry.

    Low muscle tone.

    Cold extremities.

    Persistent constipation, bloated or full to

    the touch.

    Lack of energy, sleeps most of the time,appears tired even when awake.

    Little to no growth.

    Children born with symptoms have a greater risk

    of developmental delay than children born

    Foundation Information/ Family

    Services (drop down link at the

    top) for more details.

    Online Video'sGrowth hormone deficiency in

    children Video Series (To read

    the viewing requirements click

    here and follow the

    instructions.)

    If you are experienced with

    online video's-go directly click

    here).

    Online Video Webcast about

    Children's Growth Hormone

    Deficiency 12 part series

    Insulin-like Growth Factor

    Deficiency Brochure

    Online Video Webcast about

    Insulin-like Growth Factor

    Deficiency (IGF)

    Complaince ofGrowthHormone Therapy

    Growth Hormone Deficiency-

    Concerns to Transitions (bottom

    of page)

    Adult Growth Hormone

    Deficiency

    Turner S

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    without symptoms.

    What Tests are used to Find Congenital

    Hypothyroidism?

    The usual way to discover congenital

    hypothyroidism is by a screening process done

    on all newborns between 24 and 72 hrs. old. The

    reason this is done so early is that infants with

    congenital hypothyroidism usually appear

    normal at birth and many do not show any of the

    signs or symptoms noted before. For the

    screening test, blood is obtained from your

    babies heel and is placed on a filter paper. At alaboratory the T4 and/or TSH level is measured.

    If the T4 is low and/or the TSH is elevated,

    indicating hypothyroidism, your pediatrician is

    contacted immediately so treatment can begin

    without delay. It is likely that the blood test will

    be repeated to confirm the diagnosis. The

    physicians may also take an x-ray of the legs to

    look at the ends of the bones. In babies with

    hypothyroidism, the bones have an immature

    appearance which helps to confirm diagnosis ofcongenital hypothyroidism. A thyroid scan

    should be done to determine the location, or

    absence of the thyroid gland. These tests, bone

    age and thyroid scan can be done at the time of

    diagnosis.

    How does one Treat Congenital

    Hypothyroidism?

    Treatment for congenital hypothyroidism is

    replacement of the missing thyroid hormone in

    pill form. It is extremely important that these

    pills be taken daily for life because tyroxine/T4

    is essential for all the body's functions. In

    general, the average starting dose for L-

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    thyroxine or Levothyroxine (synthetic T4) in a

    newborn is between 25 and 50 mcg per day or

    10mcg to 15mcg/kg of body weight. This value

    increases dependent upon the individual needs

    of the child. The pill can be crushed, then

    administered in a small amount of water/formula

    or breast milk while your child is still an infant.

    Please be aware that L-thyroxine should not be

    mixed with Soy formula as this product

    interferes with absorption. Blood tests will be

    done on a regular basis to ensure that the

    hormone levels are in a normal range. Thyroid

    hormone is necessary for normal brain and

    intellectual development and such developmentcan be delayed when there is a lack of L-

    thyroxine. With early replacement of adequate

    thyroid hormone and proper follow up and care,

    the outlook for most children with congenital

    hypothyroidism is excellent.

    What Type of Medical Attention should My

    Child Receive?

    Generally, children are seen every 2 - 3 months,for the first three years, once normal levels have

    been established. The goal is to maintain the

    concentration of T4 in the mid to upper half of

    the normal range (10mg/dL to 16mg/dL) for the

    first years of life. The TSH level should be

    maintained within the normal reference range

    for infants. The treatment for hypothyroidism is

    safe, simple and effective. Successful treatment,

    however, depends on life long daily medicationwith close follow up of hormone levels. Making

    this procedure of taking medication on a routine

    basis needs to become a part of the lifestyle of

    you and your child in order to assure optimal

    growth and development.

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    Contributing Medical Specialists

    Deborah Rotenstein, MD.

    Director of Pediatric Endocrinology

    Assoc Professor of Pediatrics

    Allegheny University of Health Sciences

    Allegheny General Hospital Pittsburgh, PA

    Thomas P. Foley, Jr., M.D.

    Professor of Pediatrics University of Pittsburgh

    Children's Hospital of Pittsburgh

    Pittsburgh, Pennsylvania

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    Personal

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    Remember, MAGIC is made up of parents of

    affected children. If you need to speak to

    someone about thyroid problems in children feel

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