Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for Tsh | Zendy

Bianca Raquel Teixeira Jesus | Zendy; J.R. Alonso Fernández | Zendy; Castro-Feijoo Lidia | Zendy; Cristóbal Colón | Zendy; Paloma Cabanas | Zendy; Claudia Heredia | Zendy; Luís Castaño | Zendy; Carmen GómezLado | Zendy; María L. Couce | Zendy; Manuel Pombo | Zendy

Open Access

Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for Tsh

Author(s) -

Bianca Raquel Teixeira Jesus,

J.R. Alonso Fernández,

Castro-Feijoo Lidia,

Cristóbal Colón,

Paloma Cabanas,

Claudia Heredia,

Luís Castaño,

Carmen GómezLado,

María L. Couce,

Manuel Pombo

Publication year - 2011

Publication title -

journal of clinical research in pediatric endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.566

H-Index - 35

eISSN - 1308-5735

pISSN - 1308-5727

DOI - 10.4274/jcrpe.448

Subject(s) - medicine , congenital hypothyroidism , respiratory system , pediatrics , hormone , thyroid stimulating hormone , endocrinology , thyroid

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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