title: Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH.
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.
authors.affiliation: Hosp Clínico/Universidade de Santiago, Unidad de Endocrinologia Pediatrica, Crecimiento y Adolescencia Pediatría, Galicia, Spain.
authors.forename: Jesús
authors.initials: J
authors.lastname: Barreiro
authors.forename: Jóse Ramón
authors.initials: JR
authors.lastname: Alonso-Fernández
authors.forename: Lidia
authors.initials: L
authors.lastname: Castro-Feijoo
authors.forename: Cristóbal
authors.initials: C
authors.lastname: Colón
authors.forename: Paloma
authors.initials: P
authors.lastname: Cabanas
authors.forename: Claudia
authors.initials: C
authors.lastname: Heredia
authors.forename: Luis Antonio
authors.initials: LA
authors.lastname: Castaño
authors.forename: Carmen
authors.initials: C
authors.lastname: Gómez-Lado
authors.forename: M Luz
authors.initials: ML
authors.lastname: Couce
authors.forename: Manuel
authors.initials: M
authors.lastname: Pombo
mesh_terms: D016535:Bronchial Hyperreactivity / Q000209:etiology; D003409:Congenital Hypothyroidism / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods; D013972:Thyrotropin / Q000097:blood
chemical_list: D013972:Thyrotropin