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Hypothyroidism, Congenital, Pediatric

Ari Wassner, MD Reviewed 10/2018
 


BASICS

DESCRIPTION

Primary thyroid failure present at birth 

EPIDEMIOLOGY

  • Increasing incidence worldwide

    • Due to stricter newborn screening thresholds, changing demographics

    • Overall incidence: about 1 in 2,...

DIAGNOSIS

HISTORY

  • Birth history

  • Newborn screening results (including hearing test)

  • Maternal use of antithyroid drugs

  • Maternal iodine ingestion (e.g., iodine supplements, seaweed)

  • Family history of thyroid ...

TREATMENT

MEDICATION

Levothyroxine (LT4
  • Start treatment immediately if

    • Newborn screen TSH ≥40 mIU/L (draw confirmatory serum tests and start treatment while awaiting results)

    • Serum TSH ≥20 mIU/L

    • Serum TS...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Serum TSH and free T4 should be measured.

    • Every 1 to 2 weeks until TSH and free T4 are normal

    • Every 1 to 3 months until 12 months of age

    • Every 2 to...

ADDITIONAL READING

  • LaFranchi SH. Approach to the diagnosis and treatment of neonatal hypothyroidism. J Clin Endocrinol Metab.  2011;96(10):2959–2967. [View Abstract on OvidInsights]

  • Léger J, Olivi...

CODES

ICD9

243 Congenital hypothyroidism 

ICD10

  • E03.1 Congenital hypothyroidism without goiter

  • E03.0 Congenital hypothyroidism with diffuse goiter

SNOMED

  • 190268003 Congenital hypothyroidism (disorder)

  • 278503...

FAQ

  • Q: What causes congenital hypothyroidism?

  • A: Most cases are caused by failure of the thyroid gland to form correctly (dysgenesis). Almost all of these cases are sporadic, and the underlying cause i...

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