Central Congenital Hypothyroidism Detection in Neonates

Thyroid panel blood test
Thyroid panel blood test
Screening programs that measure T4 with reflex TSH in newborns with T4 below a specified cutoff have the potential to detect central congenital hypothyroidism (CCH) and have shown a higher prevalence of CCH than previously thought.

The addition of a T4 measurement to the newborn screening program may identify patients with central congenital hypothyroidism (CCH), according to a study published by Hormone Research in Pediatrics.

Researchers identified a total of 67,719 neonates and measured their T4 and TSH simultaneously as a part of the newborn screening process in a prospective 2-year-pilot study. 

Results from the study identified 3 newborn patients with central congenital hypothyroidism, resulting in a prevalence rate of 1:22,573. T4 levels screened in patients with permanent CCH were not significantly different from transient hypothyroxinemia (P =.39) or hypoTBGemia (P =.26). However, there was a statistically significant lower value for patients in the hypoTBG group compared with those in the transient hypothyroxinemia group (P <.001)

The investigators concluded that the addition of T4 to TSH measurements as a part of the newborn screening test assisted in the early identification of individuals with primary CCH, established the identification of primary CCH as a prevalent condition, and improved care provided to newborns with CCH and other hypothalamic-pituitary-thyroidal disorders.

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Braslavsky D, Méndez MV, Prieto L, et al. Pilot neonatal screening program for central congenital hypothyroidism: evidence of significant detection. Horm Res Paediatr. 2017;88:274-280.