Congenital hypothyroidism (patient information)

For the WikiDoc page for this topic, click here

WikiDoc Resources for Congenital hypothyroidism (patient information)
Articles
Most recent articles on Congenital hypothyroidism (patient information) Most cited articles on Congenital hypothyroidism (patient information) Review articles on Congenital hypothyroidism (patient information) Articles on Congenital hypothyroidism (patient information) in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Congenital hypothyroidism (patient information) Images of Congenital hypothyroidism (patient information) Photos of Congenital hypothyroidism (patient information) Podcasts & MP3s on Congenital hypothyroidism (patient information) Videos on Congenital hypothyroidism (patient information)
Evidence Based Medicine
Cochrane Collaboration on Congenital hypothyroidism (patient information) Bandolier on Congenital hypothyroidism (patient information) TRIP on Congenital hypothyroidism (patient information)
Clinical Trials
Ongoing Trials on Congenital hypothyroidism (patient information) at Clinical Trials.gov Trial results on Congenital hypothyroidism (patient information) Clinical Trials on Congenital hypothyroidism (patient information) at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Congenital hypothyroidism (patient information) NICE Guidance on Congenital hypothyroidism (patient information) NHS PRODIGY Guidance FDA on Congenital hypothyroidism (patient information) CDC on Congenital hypothyroidism (patient information)
Books
Books on Congenital hypothyroidism (patient information)
News
Congenital hypothyroidism (patient information) in the news Be alerted to news on Congenital hypothyroidism (patient information) News trends on Congenital hypothyroidism (patient information)
Commentary
Blogs on Congenital hypothyroidism (patient information)
Definitions
Definitions of Congenital hypothyroidism (patient information)
Patient Resources / Community
Patient resources on Congenital hypothyroidism (patient information) Discussion groups on Congenital hypothyroidism (patient information) Patient Handouts on Congenital hypothyroidism (patient information) Directions to Hospitals Treating Congenital hypothyroidism (patient information) Risk calculators and risk factors for Congenital hypothyroidism (patient information)
Healthcare Provider Resources
Symptoms of Congenital hypothyroidism (patient information) Causes & Risk Factors for Congenital hypothyroidism (patient information) Diagnostic studies for Congenital hypothyroidism (patient information) Treatment of Congenital hypothyroidism (patient information)
Continuing Medical Education (CME)
CME Programs on Congenital hypothyroidism (patient information)
International
Congenital hypothyroidism (patient information) en Espanol Congenital hypothyroidism (patient information) en Francais
Business
Congenital hypothyroidism (patient information) in the Marketplace Patents on Congenital hypothyroidism (patient information)
Experimental / Informatics
List of terms related to Congenital hypothyroidism (patient information)

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.

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:

• 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.

Who is at risk for 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?

• 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.

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.

• Coma

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

• Rickets
• Down's syndrome
• Congenital megacolon

Where to find medical care for congenital hypothyroidism?

Directions to Hospitals Treating congenital hypothyroidism

Prevention of congenital hypothyroidism

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.

What to expect (Outook/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.

Copyleft Sources

http://ghr.nlm.nih.gov/condition=congenitalhypothyroidism http://www.magicfoundation.org/www/docs/114.125/congenital_hypothyroidism_hypothyroid.html Template:WH Template:WS Congenital disorders of endocrine system | Mental retardation | Pediatrics | Cell surface receptor deficiencies