Disease Profile

Congenital hypothyroidism

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of Onset

Neonatal

ICD-10

E00.0 E00.1 E00.2 E00.9 E03.0 E03.1

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

Neonatal hypothyroidism

Categories

Newborn Screening

Summary

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]

Symptoms

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.

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

Diagnosis

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.

Learn More

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

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • Genetics Home Reference (GHR) contains information on Congenital hypothyroidism. This website is maintained by the National Library of Medicine.
  • 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.

References

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