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Case Reports
. 2011;3(4):208-11.
doi: 10.4274/jcrpe.448.

Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH

Jesús Barreiro  1 , Jóse Ramón Alonso-Fernández, Lidia Castro-Feijoo, Cristóbal Colón, Paloma Cabanas, Claudia Heredia, Luis Antonio Castaño, Carmen Gómez-Lado, M Luz Couce, Manuel Pombo
Affiliations
Case Reports

Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH

Jesús Barreiro et al. J Clin Res Pediatr Endocrinol. 2011.

Abstract

We report a case of congenital hypothyroidism (CH) with neurological and respiratory alterations due to a heterozygotic c.374-1G > A mutation of TITF1/NKX2-1. The hypothyroidism was detected using a neonatal screening protocol in which the thyroid stimulating hormone (TSH) threshold is re-set each day on the basis of within-day variability and between-day variation. In this case, the threshold on the day of the initial analysis was 8.2 mIU/L, and the measured TSH level in heel-prick blood was 8.3 mIU/L.

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