Congenital hypothyroidism in Calabria: epidemiological and clinical aspects

Area of Science:

• Pediatrics
• Endocrinology
• Neonatal Screening

Background:

• Congenital hypothyroidism (CH) is a leading cause of preventable brain damage in newborns.
• Neonatal screening for CH is vital, typically performed on days 3-5 of life.
• Recent changes in TSH cut-off values have impacted CH diagnosis rates.

Purpose of the Study:

• To analyze the impact of a lowered TSH cut-off on CH diagnosis in Calabria.
• To investigate the characteristics of newly diagnosed CH cases, including thyroid status and form.

Main Methods:

• Retrospective analysis of neonatal screening data in Calabria.
• Utilized TSH levels from blood spot tests.
• Correlated TSH values with ultrasound findings and clinical diagnosis.

Main Results:

• A lowered TSH cut-off significantly increased the frequency of CH diagnoses.
• A notable proportion of new cases presented with normal in situ thyroid ultrasound.
• Transitional forms of CH were increasingly diagnosed.

Conclusions:

• The revised TSH cut-off effectively identifies more CH cases, including milder forms.
• Continued monitoring and research are necessary to understand the long-term implications of these findings.
• Optimized screening protocols are essential for early intervention and improved outcomes in congenital hypothyroidism.