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Emergency: requires immediate attention
Congenital hypothyroidism
Other Resources UpToDate PubMed
Emergency: requires immediate attention

Congenital hypothyroidism

Contributors: Joon B. Kim MD, Christine Osborne MD, Marilyn Augustine MD, Abhijeet Waghray MD
Other Resources UpToDate PubMed

Synopsis

Congenital hypothyroidism is present at birth. Most cases are sporadic (85%), with the remainder (15%) due to an inborn error of thyroid hormone synthesis. Most neonates are asymptomatic due to maternal thyroxine (T4) or residual functioning thyroid tissue, but many have a relatively higher birth weight percentile and head circumference percentile than birth length percentile due to myxedema.

When untreated, infants develop symptoms of congenital hypothyroidism including intellectual disability, lethargy, hoarse cry, poor feeding, constipation, myxedema facies, macroglossia, umbilical hernia, large fontanelles, and prolonged jaundice.

Causes of congenital hypothyroidism include thyroid dysgenesis (most common in the United States), thyroid agenesis, iodine deficiency, or dyshormonogenetic goiter.

Congenital hypothyroidism is one of the most common preventable causes of intellectual disability. As
such, newborn screening for thyroid deficiency was initiated in the 1970s.

Related topic: Hypothyroidism

Codes

ICD10CM:
E03.1 – Congenital hypothyroidism without goiter

SNOMEDCT:
190268003 – Congenital Hypothyroidism

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Panhypopituitarism (see Hypopituitarism)
  • Beckwith-Wiedemann syndrome

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:05/07/2019
Last Updated:10/06/2022
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Emergency: requires immediate attention
Congenital hypothyroidism
A medical illustration showing key findings of Congenital hypothyroidism (Prenatal or Neonatal) : Fatigue, Hypotonia, HR decreased
Clinical image of Congenital hypothyroidism - imageId=4853235. Click to open in gallery.  caption: 'A puffy appearance to the posterior neck and back.'
A puffy appearance to the posterior neck and back.
Copyright © 2024 VisualDx®. All rights reserved.