Transient or permanent congenital hypothyroidism: from milestones to current and future perspectives

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Review reveals challenges in diagnosing congenital hypothyroidism in newborns and suggests new genetic tools to improve treatment outcomes.

Primary congenital hypothyroidism is the most common endocrinopathy in developmental age, with increased incidence due to newborn screening.
Many children with congenital hypothyroidism recover thyroid function, allowing cessation of levothyroxine treatment early in life.
Clinical and biochemical reassessment is essential to determine the transient or permanent nature of congenital hypothyroidism.
Consensus guidelines for management are present, but screening strategies and re-evaluation processes vary between centers.

Vincenzi et al. (2025) studied this question.

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Review reveals challenges in diagnosing congenital hypothyroidism in newborns and suggests new genetic tools to improve treatment outcomes.