National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Congenital hypothyroidism


Other Names:
Neonatal hypothyroidism
Categories:
Congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism). The thyroid gland makes hormones that play an important role in regulating growth, brain development, and metabolism in the body. Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In the United States and many other countries, all newborns are tested for congenital hypothyroidism as part of newborn screening.[1] If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. If treatment begins in the first month after birth, infants usually develop normally. Treatment involves medication to replace the missing thyroid hormones, such as levothyroxine.[2] Most cases of congenital hypothyroidism occur in people with no history of the disorder in their family. About 15-20% of cases are due to an underlying gene mutation. Rarely, congenital hypothyroidism can be a symptom included in a larger genetic disorder called a syndrome.[1]
Last updated: 2/19/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ] 		0003270
Constipation 0002019
Feeding difficulties in infancy 0008872
Hypothyroidism
Underactive thyroid
0000821
Large posterior fontanelle 0004491
Macroglossia
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] 		0000158
Muscular hypotonia
Low or weak muscle tone
0001252
Prolonged neonatal jaundice
Prolonged yellowing of skin in newborn
0006579
Sleep disturbance
Difficulty sleeping
Trouble sleeping
[ more ] 		0002360
Thyroid dysgenesis 0008188
Umbilical hernia 0001537
30%-79% of people have these symptoms
Abnormal hair morphology
Abnormality of the hair
Hair abnormality
[ more ] 		0001595
Angiokeratoma corporis diffusum 0001071
Anosmia
Lost smell
0000458
Anxiety
Excessive, persistent worry and fear
0000739
Coarse facial features
Coarse facial appearance
0000280
Depressed nasal ridge
Flat nose
Recessed nasal ridge
[ more ] 		0000457
Depressivity
Depression
0000716
Global developmental delay 0001263
Hoarse cry 0001615
Hypogonadism
Decreased activity of gonads
0000135
Hypothermia
Abnormally low body temperature
0002045
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] 		0010864
Palpebral edema
Fullness of eyelids
Puffy eyelids
Puffy lids
Swelling of eyelids
[ more ] 		0100540
Reduced tendon reflexes 0001315
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Sinusitis
Sinus inflammation
0000246
5%-29% of people have these symptoms
Abnormal pericardium morphology 0001697
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Abnormality of vision
Abnormality of sight
Vision issue
[ more ] 		0000504
Anterior hypopituitarism 0000830
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] 		0011675
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Goiter
Enlarged thyroid gland in neck
0000853
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Hypertension 0000822
Hypotension
Low blood pressure
0002615
Intestinal obstruction
Bowel obstruction
Intestinal blockage
[ more ] 		0005214
Nephrolithiasis
Kidney stones
0000787
Optic atrophy 0000648
Oral cleft
Cleft of the mouth
0000202
Paresthesia
Pins and needles feeling
Tingling
[ more ] 		0003401
Tracheoesophageal fistula 0002575
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Newborn Screening

  • An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
  • An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
  • American Academy of Pediatrics, Rose SR; Section on Endocrinology and Committee on Genetics, American Thyroid Association, Brown RS; Public Health Committee, Lawson Wilkins Pediatric Endocrine Society, Foley T, Kaplowitz PB, Kaye CI, Sundararajan S, Varma SK. Update of Newborn Screening and Therapy for Congenital Hypothyroidism. Pediatrics. 2006 Jun;117(6):2290-303.
  • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
  • National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Congenital hypothyroidism. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Congenital hypothyroidism. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
  • The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Congenital hypothyroidism in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • If TSH levels are found to be out of range in a new born baby, does this mean that the baby will have permanent or temporary deficiency? See answer


  1. Congenital hypothyroidism. Genetics Home Reference. September 2015; http://www.ghr.nlm.nih.gov/condition/congenital-hypothyroidism.
  2. Congenital Hypothyroidism. The MAGIC Foundation. http://www.magicfoundation.org/www/docs/1185/congenital-hypothyroidism. Accessed 2/19/2016.