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'''For the WikiDoc page for this topic, click [[Congenital hypothyroidism|here]]'''
'''For the WikiDoc page for this topic, click [[Congenital hypothyroidism|here]]'''


{{SI}}
{{Congenital hypothyroidism (patient information)}}


{{CMG}};  Jinhui Wu, MD
{{CMG}};  '''Associate Editor(s)-In-Chief:''' Jinhui Wu, M.D.


{{EJ}}
==Overview==
Congenital hypothyroidism is a disorder that affects infants from birth and results from a partial or complete loss of thyroid function.  Researches demonstrate mutations in the DUOX2, PAX8, SLC5A5, TG, TPO, TSHB, and TSHR genes may be involved in the causes of congenital hypothyroidism. Usual signs and symptoms include increased birth weight, puffy face, swollen tongue, [[hoarse]] cry, low muscle tone, [[constipation]], [[fatigue]] and [[weakness]]. Tests of serum [[thyroid-stimulating hormone]] (TSH) and T4 can tell the diagnosis. Treatment for congenital hypothyroidism is to replace the lacking thyroid hormone. [[Levothyroxine]] is the most commonly used medication for replacement. The earlier the treatment of hormone replacement therapy starts, the better outcoms will be.


==What is congenital hypothyroidism?==
==What are the symptoms of Congenital hypothyroidism?==
Congenital hypothyroidism is a disorder that affects infants from birth and results from a partial or complete loss of thyroid function.  Researches demonstrate mutations in the DUOX2, PAX8, SLC5A5, TG, TPO, TSHB, and TSHR genes may be involved in the causes of congenital hypothyroidism. Usual signs and symptoms include increased birth weight, puffy face, swollen tongue, [[hoarse]] cry, low muscle tone, [[constipation]], [[fatigue]] and [[weakness]]. Tests of serum [[thyroid-stimulating hormone]] (TSH) and T4 can tell the diagnosis. Treatment for congenital hypothyroidism is to replace the lacking thyroid hormone. [[Levothyroxine]] is the most commonly used medication for replacement. Without the complication of [[myxedema coma]], many patients return to with proper treatment.
*Some babies with congenital hypothyroidism do not appear any signs at birth.  
 
==How do I know if my boby has congenital hypothyroidism and what are the symptoms of congenital hypothyroidism?==
Some babies with congenital hypothyroidism do not appear any signs at birth. Some may have one or more of the following symptoms:


*Some may have one or more of the following symptoms:
:*[[Weight gain]]  
:*[[Weight gain]]  
:*Puffy face
:*Puffy face
:*Swollen tongue.
:*Swollen tongue
:*Hoarse cry.
:*Hoarse cry
:*Low muscle tone.
:*Low muscle tone  
:*Cold intolerance  
:*Cold intolerance  
:*Persistent [[constipation]]  
:*Persistent [[constipation]]  
:*[[Fatigue]] and [[weakness]]
:*[[Fatigue]] and [[weakness]]
:*Little to no growth  
:*Little to no growth  
:*Neurological impairment
:*Without therapy, the child later may show signs of neurological impairment.


==Who is at risk for congenital hypothyroidism?==
==What causes Congenital hypothyroidism?==
*Hypothyroidism in the newborn may be caused by:
:*A missing or abnormally developed thyroid gland
:*Pituitary gland's failure to stimulate the thyroid
:*Defective or abnormal formation of thyroid hormones
 
*Incomplete development of the thyroid is the most common defect and occurs in about 1 out of every 3,000 births. Girls are affected twice as often than boys.
 
==Who is at highest risk?==
Mutations in the DUOX2, PAX8, SLC5A5, TG, TPO, TSHB, and TSHR genes result in congenital hypothyroidism.
Mutations in the DUOX2, PAX8, SLC5A5, TG, TPO, TSHB, and TSHR genes result in congenital hypothyroidism.


==How to know you have congenital hypothyroidism?==
==When to seek urgent medical care?==
Call your health care provider if:
*You feel your infant shows signs or symptoms of hypothyroidism
*You are pregnant and have been exposed to antithyroid drugs or procedures
 
==Diagnosis==
*Laboratory tests of determination [[thyroid function]], including serum thyroid-stimulating hormone (TSH) and T4 test.
*Laboratory tests of determination [[thyroid function]], including serum thyroid-stimulating hormone (TSH) and T4 test.
:*TSH test: This test is the most accurate measure of thyroid function. General speaking, a TSH reading above normal means a person has [[hypothyroidism]] and a reading below normal means a person has [[hyperthyroidism]].
*TSH test: This test is the most accurate measure of thyroid function. General speaking, a TSH reading above normal means a person has [[hypothyroidism]] and a reading below normal means a person has [[hyperthyroidism]].
:*T4 test: This test measures the actual amount of circulating [[thyroid hormone]] in the blood. In [[hypothyroidism]], the level of T4 in the blood is lower than normal.
*T4 test: This test measures the actual amount of circulating [[thyroid hormone]] in the blood. In [[hypothyroidism]], the level of T4 in the blood is lower than normal.
*Blood tests: In patients with congenital hypothyroidism, the tests may demonstrate [[anemia]] on a [[complete blood count]], increased [[cholesterol]] levels, increased [[liver enzyme]]s, increased [[prolactin]] and low [[sodium]].
*[[Bone age]] test: In babies with hypothyroidism, they show signs of bone with an immature appearance.
*X-ray test: A chest x-ray may show an enlarged heart in patients with congenital hypothyroidism.
 
==When to seek urgent medical care?==
Call your baby's health care provider if symptoms of congenital hypothyroidism appear. If your baby experiences either of the following symptoms, seeking urgent medical care as soon as possible.  
:*Neurological impairment
:*[[Coma]]


==Treatment options==
==Treatment options==
The purpose of treatment is to replace the lacking thyroid hormone. [[Levothyroxine]] is the most commonly used medication. When you are taking thyroid hormone medications, the following things are important to remember:
The purpose of treatment is to replace the lacking thyroid hormone as early as possible. The hormone replacement therapy is necessary for normal brain and intellectual development. The earlier the treatment begins, the better the outlook will get for most children with congenital hypothyroidism. [[Levothyroxine]] is the most commonly used medication. When your baby is taking thyroid hormone medications, regular blood tests need to be checked to ensure the hormone levels in a normal range.
:*Lifelong therapy is needed. Do NOT stop taking the medication when you feel better. Continue taking the medication under your doctor's direction.
:*Tell your doctor when you want to change brands of thyroid medicine. Different brands of thyroid medicine may affect your blood level of thyroid hormone.
:*Tell your dietary habits to the doctor, because some foods may also change your blood level of thyroid hormone.
:*Drugs interaction: Thryoid medicine may work best on an empty stomach and when taken 1 hour before any other medications. Do NOT take thyroid hormone with [[calcium]], [[iron]], [[multivitamins]], alumin hydroxide [[antacids]], [[colestipol]], or other medicines that bind [[bile acid]]s, or fiber supplements.
:*Tell your doctor if you have any symptoms of [[hyperthyroidism]], such as [[restlessness]] or [[shakiness]], [[sweating]] or rapid [[weight loss]]. Your doctor will check your blood levels of thyroid hormone and change the the dosage of your medication.


==Diseases with similar symptoms==
==Diseases with similar symptoms==
:*[[Rickets]]
*[[Rickets]]
:*[[Down's syndrome]]
*[[Down's syndrome]]
:*[[Congenital megacolon]]
*[[Congenital megacolon]]
 
==Where to find medical care for Congenital hypothyroidism?==


==Where to find medical care for congenital hypothyroidism?==
[http://maps.google.com/maps?q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|map+top+hospital+Congenital hypothyroidism}}}}&oe=utf-8&rls=org.mozilla:en-US:official&client=firefox-a&um=1&ie=UTF-8&sa=N&hl=en&tab=wl Directions to Hospitals Treating Congenital hypothyroidism]
[http://maps.google.com/maps?f=q&hl=en&geocode=&q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|congenital hypothyroidism}}}}&sll=37.0625,-95.677068&sspn=65.008093,112.148438&ie=UTF8&ll=37.0625,-95.677068&spn=91.690419,149.414063&z=2&source=embed Directions to Hospitals Treating congenital hypothyroidism]


==Prevention of congenital hypothyroidism==
==What to expect (Outlook/Prognosis)?==
There is no prevention for congenital hypothyroidism. Because gene [[mutations]] are the causes, [[screening test]]s in newborns can detect congenital hypothyroidism.
*Prognosis of congenital hypothyroidism depends on whether the baby starts thyroid hormone replacement therapy early.  


==What to expect (Outook/Prognosis)?==
*The earlier the treatment begins, the better outcome the baby will be.
Prognosis of congenital hypothyroidism depends on whether [[myxedema coma]], one of complications occurs. Without myxedema coma, thyroid levels of most cases return to with proper treatment. Otherwise, myxedema coma may result in death.


==Copyleft Sources==
==Possible complications==
http://ghr.nlm.nih.gov/condition=congenitalhypothyroidism
*Mental retardation
*Growth retardation
*Heart problems


http://www.magicfoundation.org/www/docs/114.125/congenital_hypothyroidism_hypothyroid.html
==Prevention==
There is no prevention for congenital hypothyroidism. A [[screening test]] in newborns between 24 and 72 hours old may be used to detect congenital hypothyroidism.


{{WH}}
==Sources==
*http://www.nlm.nih.gov/medlineplus/ency/article/001193.htm
*http://ghr.nlm.nih.gov/condition=congenitalhypothyroidism
{{WH}}  
{{WS}}
{{WS}}
[[Category:Patient Information]]
 
[[Category:For review]]
[[Category:Overview complete]]
[[Category:Template complete]]
[[Category:Disease]]
[[Category:Patient information]]
[[Category:Endocrinology]]
[[Category:Endocrinology patient information]]
[[Category:Genetic disorders]]
[[Category:Genetic disorders patient information]]
[[Category:Neonatology]]
[[Category:Neonatology patient information]]

Latest revision as of 19:45, 9 December 2011

For the WikiDoc page for this topic, click here

Congenital hypothyroidism

Overview

What are the symptoms?

What are the causes?

Who is at highest risk?

When to seek urgent medical care?

Diagnosis

Treatment options

Diseases with similar symptoms

Where to find medical care for Congenital hypothyroidism?

What to expect (Outlook/Prognosis)?

Possible complications

Prevention

Congenital hypothyroidism On the Web

Ongoing Trials at Clinical Trials.gov

Images of Congenital hypothyroidism

Videos on Congenital hypothyroidism

FDA on Congenital hypothyroidism

CDC on Congenital hypothyroidism

Congenital hypothyroidism in the news

Blogs on Congenital hypothyroidism

Directions to Hospitals Treating Congenital hypothyroidism

Risk calculators and risk factors for Congenital hypothyroidism

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Jinhui Wu, M.D.

Overview

Congenital hypothyroidism is a disorder that affects infants from birth and results from a partial or complete loss of thyroid function. Researches demonstrate mutations in the DUOX2, PAX8, SLC5A5, TG, TPO, TSHB, and TSHR genes may be involved in the causes of congenital hypothyroidism. Usual signs and symptoms include increased birth weight, puffy face, swollen tongue, hoarse cry, low muscle tone, constipation, fatigue and weakness. Tests of serum thyroid-stimulating hormone (TSH) and T4 can tell the diagnosis. Treatment for congenital hypothyroidism is to replace the lacking thyroid hormone. Levothyroxine is the most commonly used medication for replacement. The earlier the treatment of hormone replacement therapy starts, the better outcoms will be.

What are the symptoms of Congenital hypothyroidism?

  • Some babies with congenital hypothyroidism do not appear any signs at birth.
  • Some may have one or more of the following symptoms:
  • Weight gain
  • Puffy face
  • Swollen tongue
  • Hoarse cry
  • Low muscle tone
  • Cold intolerance
  • Persistent constipation
  • Fatigue and weakness
  • Little to no growth
  • Without therapy, the child later may show signs of neurological impairment.

What causes Congenital hypothyroidism?

  • Hypothyroidism in the newborn may be caused by:
  • A missing or abnormally developed thyroid gland
  • Pituitary gland's failure to stimulate the thyroid
  • Defective or abnormal formation of thyroid hormones
  • Incomplete development of the thyroid is the most common defect and occurs in about 1 out of every 3,000 births. Girls are affected twice as often than boys.

Who is at highest risk?

Mutations in the DUOX2, PAX8, SLC5A5, TG, TPO, TSHB, and TSHR genes result in congenital hypothyroidism.

When to seek urgent medical care?

Call your health care provider if:

  • You feel your infant shows signs or symptoms of hypothyroidism
  • You are pregnant and have been exposed to antithyroid drugs or procedures

Diagnosis

  • Laboratory tests of determination thyroid function, including serum thyroid-stimulating hormone (TSH) and T4 test.
  • TSH test: This test is the most accurate measure of thyroid function. General speaking, a TSH reading above normal means a person has hypothyroidism and a reading below normal means a person has hyperthyroidism.
  • T4 test: This test measures the actual amount of circulating thyroid hormone in the blood. In hypothyroidism, the level of T4 in the blood is lower than normal.
  • Bone age test: In babies with hypothyroidism, they show signs of bone with an immature appearance.

Treatment options

The purpose of treatment is to replace the lacking thyroid hormone as early as possible. The hormone replacement therapy is necessary for normal brain and intellectual development. The earlier the treatment begins, the better the outlook will get for most children with congenital hypothyroidism. Levothyroxine is the most commonly used medication. When your baby is taking thyroid hormone medications, regular blood tests need to be checked to ensure the hormone levels in a normal range.

Diseases with similar symptoms

Where to find medical care for Congenital hypothyroidism?

Directions to Hospitals Treating Congenital hypothyroidism

What to expect (Outlook/Prognosis)?

  • Prognosis of congenital hypothyroidism depends on whether the baby starts thyroid hormone replacement therapy early.
  • The earlier the treatment begins, the better outcome the baby will be.

Possible complications

  • Mental retardation
  • Growth retardation
  • Heart problems

Prevention

There is no prevention for congenital hypothyroidism. A screening test in newborns between 24 and 72 hours old may be used to detect congenital hypothyroidism.

Sources

Template:WH Template:WS