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

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 eac...

Full description

Saved in:
Bibliographic Details
Published in:Journal of clinical research in pediatric endocrinology 2011, Vol.3 (4), p.208-211
Main Authors: Barreiro, Jesús, Alonso-Fernández, Jóse Ramón, Castro-Feijoo, Lidia, Colón, Cristóbal, Cabanas, Paloma, Heredia, Claudia, Castaño, Luis Antonio, Gómez-Lado, Carmen, Couce, M Luz, Pombo, Manuel
Format: Article
Language:English
Subjects:
Bronchial Hyperreactivity - etiology
Case Reports
Congenital Hypothyroidism - complications
Congenital Hypothyroidism - diagnosis
Humans
Infant, Newborn
Male
Neonatal Screening - methods
Thyrotropin - blood
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1308-5727
1308-5735
DOI:10.4274/jcrpe.448