August 5, 2025Frontiers in EndocrinologyOpen Access

Primary congenital hypothyroidism: a clinical review

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Authors

PCPaolo Cavarzere VMValentina Mancioppi RBriccardo battiston

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Implication

This review describes the clinical management of congenital hypothyroidism in newborns, highlighting genetic investigation and thyroid function reassessment.

Key Points

The prevalence of congenital hypothyroidism is rising due to lower screening cut-off levels, suggesting better detection.
Most affected patients have mild symptoms and a normal phenotype as a result of effective neonatal screening.
Management shifts involve genetic investigations and assessing thyroid function from 6 months for those on low L-thyroxine doses.
Adapting treatment plans is crucial to ensure optimal outcomes as newborn screening continues to evolve.

Cite This Study

Cavarzere et al. (2025) studied this question.

synapsesocial.com/papers/68af2b56cf1dd9ea359e440b https://doi.org/10.3389/fendo.2025.1592655

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Implication

This review describes the clinical management of congenital hypothyroidism in newborns, highlighting genetic investigation and thyroid function reassessment.

Primary congenital hypothyroidism: a clinical review

Discussion

Member takes

Implication

Key Points

Cite This Study

Primary congenital hypothyroidism: a clinical review

Discussion

Member takes

Implication

Key Points

Cite This Study

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