Congenital Hypothyroidism: A-to-Z Guide from Diagnosis to Treatment to Prevention

Newborn with bandaid on the heel from newborn screening test for Hypothyroidism.

Introductionto congenital hypothyroidism:

Mental retardation from congenital hypothyroidism can be prevented if the problem is diagnosed and treated early. This is one of the reasons that newborn screening tests are so important.

What is it?

The thyroid gland produces hormones that influence many states and functions of the body, including energy, temperature, metabolism, growth, and intelligence.

Hypothyroidism is the situation where there are either low levels of thyroid hormones or reasons why the thyroid hormones are not able to carry out their functions.

Who gets it?

Congenital hypothyroidism occurs around the world, but is fairly uncommon. It is twice as common in girls as in boys. Most of the time this is a hereditary condition, but it can occur from other causes, such as prenatal exposure to radioiodine or other anti-thyroid drugs.

What are the symptoms?

Symptoms are usually not noticed in newborns until the lack of effective thyroid hormone has already begun doing lasting damage. This is one of the reasons that newborn screening for hypothyroidism is so important.

Often these children have prolonged jaundice. They may be poor eaters, with very little interest in feeding. Constipation is common. They tend to cry very little and sleep a lot. They tend to have large heads, large tongues, and large bellies. Most have umbilical hernias. The soft spots on the head are large and close slowly. Some develop respiratory distress. The temperature, heart rate and blood count are usually below normal.

Physical development is slowed, with floppy muscles, late teeth, late milestones, and small size. The hands are typically wide but short.

Mental development is also slowed. Unless treated, many would never progress to learn to talk.

Is it contagious?


How long does it last?

Some forms of congenital hypothyroidism are temporary. Others are permanent, but can be effectively managed by giving thyroid hormone. Damage done from untreated hypothyroidism may be permanent, even if treatment is begun later. This is another reason that the newborn screening program is so important.

How is it diagnosed?

Most congenital hypothyroidism is discovered on newborn screening tests. This is not always the case, however, and typical symptoms can prompt a blood test to diagnose the problem.

How is it treated?

Hypothyroidism is treated by consistently giving thyroid hormone.

How can it be prevented?

Hypothyroidism usually cannot be prevented, but the mental retardation and other complications usually can be prevented by prompt diagnosis and treatment.

Hypothyroidism, PKU, and fetal alcohol syndrome are each important causes of preventable mental retardation.

Dr. Alan Greene

As a father of four himself, Dr. Greene has devoted himself to freely giving real answers to parents' real questions -- from questions about those all too common childhood conditions to those that address the most recent and rare pediatric illnesses. His answers combine cutting edge science, practical wisdom, warm empathy, and a deep respect for parents, children, and the environment. He is also an electrifying public speaker, and has personally touched many during his talks in North America, Europe, Asia, and the Middle East.

Dr. Greene is a graduate of Princeton University and the University of California at San Francisco. Upon completion of his pediatric residency program at Children's Hospital Medical Center of Northern California he served as Chief Resident. He entered primary care pediatrics in January 1993.

Dr. Greene is the Past President of The Organic Center and on the Board of Directors of Healthy Child Healthy World. He is a founding partner of the Collaborative on Health and the Environment. He also consults for the Environmental Working Group.

In 1995, he launched, cited by the AMA as “the pioneer physician Web site” on the Internet. His award-winning site has received over 80 million Unique Users from parents, concerned family members, students, and healthcare professionals. In addition to being the founder of, he is the Medical Director for HealthTap.

In 2010 Dr. Greene founded the WhiteOut Movement to change how babies in the United States are fed. In 2012 he founded TICC TOCC - Transitioning Immediate Cord Clamping To Optimal Cord Clamping. He is also the founder of KidGlyphs, a free iPhone app that provides a tool for young children to express themselves beyond their verbal skills while teaching them important language skills.

Dr. Greene is the Founding President of the Society for Participatory Medicine and has served as both President and Board Chair of Hi-Ethics (Health Internet Ethics. He is on the Board of Directors for Healthy Child Healthy World, The Lunchbox Project, and The Society for Participatory Medicine. He has also served as an advisor to URAC for both their inaugural and their updated health web site accreditation program. He is a founding member of the e-Patient Scholars Working Group, and a founding board member of the Center for Information Therapy.

Dr. Greene is a regular columnist for Parenting Magazine. He is also the Pediatric Expert for The People’s Pharmacy (as heard on NPR) and Healing Quest (seen on PBS stations). He was the original Pediatric Expert for both Yahoo! and iVillage.

Dr. Greene is the author of Feeding Baby Green (Wiley, 2009), Raising Baby Green (Wiley, 2007), From First Kicks to First Steps (McGraw-Hill, 2004), The Parent's Complete Guide to Ear Infections (People's Medical Society, 1997), and a co-author of The A.D.A.M. Illustrated Family Health Guide (A.D.A.M., Inc., 2004). He is the medical expert for three additional books, The Parent's Soup A-to-Z Guide to Your New Baby, (Contemporary Books, 1998) The Parent's Soup A-to-Z Guide to Your Toddler, (Contemporary Books, 1999), and The Mother of All Baby Books, (Hungry Minds, Inc., 2002).

Dr. Greene is a frequent keynote speaker at important events such as Health 2.0 2011 held in San Diego, CA, IFOAM 2008 (International Federation of Organic Agriculture Movements), held in Modena Italy, the first European Internet health conference, held in Maastricht, the first International eHealth Association Conference, held in Jeddah, and the largest e-Healthcare World Conference, held in Las Vegas, and the first Green Power Baby Shower, held in Hollywood. Dr. Greene also appears frequently on TV, radio, websites, and in newspapers and magazines around the world, including such venues as the TODAY Show, Good Morning America, Fox and Friends, The Dr. Oz Show, CNN, ABC, CBS, and NBC network news, NPR, The New York Times, The Wall Street Journal, USA Today, Time Magazine, Parade, Parenting, Child, Baby Talk, Working Mother, Better Home's & Gardens, and the Reader's Digest.

Dr. Greene loves to think about challenging ideas, he enjoys being where nothing manmade can be seen, and he wears green socks.

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