Thyroid dysfunctions in children detected in mass screening for congenital hypothyroidism

Area of Science:

• Endocrinology
• Neonatal Screening
• Pediatric Endocrinology

Background:

• Congenital hypothyroidism (CH) is a common endocrine disorder in newborns, affecting approximately 1 in 3000–4000 infants.
• Early detection through mass screening is crucial for timely intervention and preventing developmental issues.

Purpose of the Study:

• To establish the prevalence of congenital hypothyroidism (CH) and isolated hyperthyrotropinemia (IHT) in neonates undergoing mass screening in southeastern Poland.
• To analyze the etiological factors contributing to CH, including thyroid dysgenesis and dyshormonogenesis.

Main Methods:

• A mass screening program identified 233,120 neonates in southeastern Poland.
• Serum thyroid-stimulating hormone (TSH) and free thyroxine (fT4) levels were measured for confirmation and diagnosis.
• Thyroid ultrasonography and scintigraphy were utilized for etiological investigation in a subset of patients.

Main Results:

• The overall prevalence of CH was determined to be 1:4570, with permanent CH at 1:6475 and transient CH at 1:38,853.
• Permanent isolated hyperthyrotropinemia (IHT) was diagnosed in 6 children, with a prevalence of 1:38,853.
• Thyroid dysgenesis was the primary cause of permanent CH (n=27), followed by dyshormonogenesis (n=7).

Conclusions:

• The calculated prevalence of CH and IHT in this cohort aligns with findings from iodine-sufficient and borderline iodine-deficient regions.
• Neonatal screening effectively identifies CH and IHT, enabling prompt management to mitigate long-term health consequences.