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Congenital hypothyroidism

Guidelines

Key sources

The following summarized guidelines for the evaluation and management of congenital hypothyroidism are prepared by our editorial team based on guidelines from the American Academy of Pediatrics (AAP 2023), the European Reference Network on Rare Endocrine Conditions (Endo-ERN 2021), and the European Thyroid Association (ETA 2018).
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Screening and diagnosis

Neonatal screening, indications: as per AAP 2023 guidelines, obtain neonatal screening for CH in all infants in conjunction with state or regional public health laboratories.
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  • Neonatal screening (timing)

  • Neonatal screening (technical considerations)

  • Neonatal screening (repeat testing)

  • Confirmation of diagnosis

Diagnostic investigations

Initial evaluation: as per AAP 2023 guidelines, evaluate the infant without delay, optimally within 24 hours or on the next office day after the neonatal screening results are received.
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  • Thyroid imaging

  • Genetic testing

  • Evaluation for central hypothyroidism

  • Evaluation for malformations

  • Knee X-ray

Medical management

Thyroid hormone replacement therapy, indications, primary CH: as per AAP 2023 guidelines, initiate treatment as soon as possible after the diagnosis is confirmed, optimally by 2 weeks of age if identified on the first neonatal screening.
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  • Thyroid hormone replacement therapy (indications, central CH)

  • Thyroid hormone replacement therapy (dosing and administration)

  • Thyroid hormone replacement therapy (treatment goals)

Nonpharmacologic interventions

Avoidance of iodine products: as per Endo-ERN 2021 guidelines, avoid using iodine as an antiseptic during the perineonatal and neonatal periods because of the risk of transient CH.
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Specific circumstances

Fetal hypothyroidism: as per Endo-ERN 2021 guidelines, obtain antenatal diagnosis in cases of goiter fortuitously discovered during the systematic fetal ultrasound in relation to thyroid dyshormonogenesis,
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a familial recurrence of CH due to dyshormonogenesis,
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and known defects of genes involved in thyroid function or development with potential germline transmission.
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  • Pregnant patients

Patient education

Parental counseling: as per AAP 2023 guidelines, provide parental education regarding the following:
etiology of CH
benefit of early diagnosis and treatment in preventing intellectual disability
appropriate method for levothyroxine administration
substances interfering with levothyroxine absorption (such as soy, iron, calcium, and/or fiber)
importance of adherence to the treatment plan, including regular follow-up care.
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  • Genetic counseling

Follow-up and surveillance

Clinical follow-up
As per AAP 2023 guidelines:
Obtain regular clinical evaluations, including assessment of developmental progress and growth, during the first 3 years of life in patients with CH.
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Consider obtaining a formal hearing evaluation whenever there is clinical concern for a hearing deficit or abnormal language development, as there is an increased risk of hearing deficits in patients with CH.
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  • Laboratory follow-up (primary CH)

  • Laboratory follow-up (central CH)

  • Evaluation of hypothyroidism permanence

  • Evaluation of thyroid nodules