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Congenital hypothyroidism

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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Guidelines

1.Screening and diagnosis

Neonatal screening, indications, AAP: 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

2.Diagnostic investigations

Initial evaluation: 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

3.Medical management

Thyroid hormone replacement therapy, indications, primary congenital hypothyroidism, AAP: 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)

4.Nonpharmacologic interventions

Avoidance of iodine products: avoid using iodine as an antiseptic during the perineonatal and neonatal periods because of the risk of transient CH.
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5.Specific circumstances

Fetal hypothyroidism: 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

6.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

7.Follow-up and surveillance

Serial clinical assessment
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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  • Serial laboratory assessment (primary CH)

  • Serial laboratory assessment (central CH)

  • Evaluation of hypothyroidism permanence

  • Evaluation of thyroid nodules