Congenital hypothyroidism: Screening dilemma

Area of Science:

• Pediatrics
• Endocrinology
• Public Health

Background:

• Congenital hypothyroidism (CH) is a common endocrine disorder in infants.
• Primary sporadic CH is the leading cause of hypothyroidism in early childhood in iodine-sufficient areas.
• Neonatal screening for CH (NSCH) has been implemented since the 1970s.

Purpose of the Study:

• To highlight the established rationale and importance of neonatal screening for CH.
• To underscore the impact of NSCH on preventing severe neurodevelopmental damage and growth failure.

Main Methods:

• Measurement of thyroid-stimulating hormone (TSH) and thyroid hormones in cord blood enables newborn screening (NS) for CH.
• NSCH is a mandatory screening program in many developed countries.
• Worldwide, approximately 25% of 130 million annual births are screened for CH.

Main Results:

• Early treatment (by 3 months) of CH improves central nervous system (CNS) prognosis, as demonstrated by Klein et al. in 1972.
• NSCH has been highly effective in preventing severe irreversible neurodevelopmental damage.
• NSCH has reversed the likelihood of growth failure in infancy and early childhood.

Conclusions:

• Neonatal screening for CH is a vital public health measure.
• Early detection and treatment through NSCH are critical for optimal infant development.
• NSCH has significantly improved long-term outcomes for children with CH.