Central Congenital Hypothyroidism Detection in Neonates

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The main underlying cause of central congential hypothyroidism is combined congenital pituitary hormone deficiency.
The main underlying cause of central congential hypothyroidism is combined congenital pituitary hormone deficiency.

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.

 

Reference

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.

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