ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 1 Year: 2024
Forms

Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for TSH [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2011; 3(4): 208-211 | DOI: 10.4274/jcrpe.448

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

Jesús Barreiro1, Jóse Ramón Alonso-Fernández2, Lidia Castro-Feijoo1, Cristóbal Colón2, Paloma Cabanas1, Claudia Heredia1, Luis Antonio Castaño3, Carmen Gómez-Lado4, M.Luz Couce5, Manuel Pombo1
1Hosp Clínico/Universidade De Santiago, Unidad De Endocrinologia Pediatrica, Crecimiento Y Adolescencia Pediatría, Galicia, Spain
2Hosp Clínico/Universidade De Santiago De Compostela, Lab Metabolopatías Pediatria, Galicia, Spain
3Hosp De Cruces Universidad Del País Vasco, Grupo De Investigación En Endocrinología Y Diabetes, Vizczya, Vascongadas, Spain
4Hosp Clínico/Universidade De Santiago De Compostela, Unidad De Neuropediatria Pediatría, Galicia, Spain
5Hosp Clínico/Universidade De Santiago De Compostela, Neonatología, Pediatría, Galicia, Spain

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.

Keywords: congenital hypothyroidism,TSH cut-off,newborn screening,neurological pathology,respiratory pathology,TITF1/NKX2-1 gene

Jesús Barreiro, Jóse Ramón Alonso-Fernández, Lidia Castro-Feijoo, Cristóbal Colón, Paloma Cabanas, Claudia Heredia, Luis Antonio Castaño, Carmen Gómez-Lado, M.Luz Couce, Manuel Pombo. Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for TSH. J Clin Res Pediatr Endocrinol. 2011; 3(4): 208-211
Manuscript Language: English
LookUs & Online Makale