Primary congenital hypothyroidism: a clinical review

Area of Science:

• Pediatrics
• Endocrinology
• Genetics

Background:

• Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder.
• Newborn screening has significantly improved CH management and reduced long-term consequences.
• Current screening identifies mostly mild or asymptomatic CH cases, with increasing diagnoses of CH with gland in situ.

Purpose of the Study:

• To review the clinical approach to congenital hypothyroidism.
• To optimize the management and treatment strategies for CH.
• To highlight changes in managing CH with gland in situ, including genetic investigations and thyroid function reassessment.

Main Methods:

• Literature review of clinical approaches to CH.
• Analysis of trends in CH diagnosis and management.
• Discussion of genetic investigations and L-thyroxine treatment adjustments.

Main Results:

• Newborn screening has transformed CH from a severe to a milder condition in most cases.
• The incidence of CH with gland in situ is rising due to lower TSH screening cut-offs.
• Management of CH with gland in situ now involves genetic analysis and potential L-thyroxine dose adjustments.

Conclusions:

• CH management has advanced significantly due to newborn screening.
• Evolving diagnostic criteria necessitate updated clinical approaches for CH, particularly for gland in situ cases.
• Genetic evaluation and tailored L-thyroxine therapy are becoming crucial in optimizing CH patient care.