Table of contents
Expand All Topics
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).
1
2
3
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.
E
More topics in this section
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.
E
Show 3 more
More topics in this section
Thyroid imaging
Genetic testing
Evaluation for central hypothyroidism
Evaluation for malformations
Knee X-ray
Medical management
Levothyroxine, 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.
E
Show 6 more
More topics in this section
Levothyroxine (indications, central CH)
Levothyroxine (dosing and administration)
Levothyroxine (treatment goals)
Nonpharmacologic interventions
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,
A
a familial recurrence of CH due to dyshormonogenesis, A
and known defects of genes involved in thyroid function or development with potential germline transmission. B
Show 8 more
More topics in this section
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.
E
More topics in this section
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.
E
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.
E
More topics in this section
Laboratory follow-up (primary CH)
Laboratory follow-up (central CH)
Evaluation of hypothyroidism permanence
Evaluation of thyroid nodules