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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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Small for Gestational Age
Intrauterine Growth Retardation
Insulin-like Growth Factor
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Me & My Growth Hormone-
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Hormone Deficiency
What is normal growth?
Abnormalities of Growth
(overview of growth failure)
Idiopathic Short Stature
Constitutional Growth Delay
Your first visit to a pediatric
endocrinologist
Psychosocial Aspects of
Children with Short Stature
Measuring your child at home
Understanding a Growth Chart
Online growth chart- just insert
the numbers and the system
does the work for you!
Traveling with Growth
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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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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-
7/27/2019 TIROID4
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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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at home!
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which supports our foundation
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Information
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(must use your password)
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Personal
Stories by
Affected
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Adults
Networking
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Birthday
Club
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Kid's PenPal/
InternetFriends
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Remember, MAGIC is made up of parents of
affected children. If you need to speak to
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