title: False-negative primary neonatal thyroid screening: the need for clinical vigilance and secondary screening.
abstract: The screening of newborn babies for congenital hypothyroidism has changed the natural history of this abnormality. We describe here a case of a female patient with congenital hypothyroidism that was missed by primary neonatal thyroid screening (using thyroid-stimulating hormone) at two days of age; it was detected only after the development and persistence of jaundice during the first three weeks of life. A normal neonatal screening result does not preclude the development of hypothyroidism later in infancy. Clinical vigilance must be maintained by practitioners. A second screening between two and six weeks of age may be useful in order to detect the few cases missed at first screening.
authors.affiliation: Department of Pediatrics, Daher, American University of Beirut, Beirut, Lebanon. kayunis@aub.edu.lb
authors.forename: K A
authors.initials: KA
authors.lastname: Yunis
authors.forename: M R
authors.initials: MR
authors.lastname: Nasr
authors.forename: G
authors.initials: G
authors.lastname: Lepejian
authors.forename: S
authors.initials: S
authors.lastname: Najjar
authors.forename: R
authors.initials: R
authors.lastname: Daher
mesh_terms: D005188:False Negative Reactions; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis* / Q000517:prevention & control; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods* / Q000592:standards; D015203:Reproducibility of Results; D013960:Thyroid Function Tests; D013972:Thyrotropin / Q000097:blood*
chemical_list: D013972:Thyrotropin