title: The association of thyroid dyshormonogenesis and deafness (Pendred syndrome): experience of the Victorian Neonatal Thyroid Screening Programme.
abstract: Between 1977 and 1989, the Victorian Neonatal Thyroid Screening Programme detected five subjects with thyroid dyshormonogenesis and sensorineural deafness. These patients have been diagnosed as having Pendred syndrome. In two of the children, thyroid function tests which were initially abnormal at birth returned to normal spontaneously without treatment. However, hypothyroidism subsequently recurred and the children required thyroxine therapy. These two children could have been mistakenly diagnosed as having transient hypothyroidism. The detection of five patients with Pendred syndrome illustrates the importance of audiological assessment in all babies with thyroid dyshormonogenesis in whom there is increased uptake of isotope on thyroid scanning. In our experience, hearing loss in patients with Pendred syndrome may be progressive over time, so that repeated audiological assessments are necessary.
authors.affiliation: Department of Clinical Biochemistry, Royal Children's Hospital, Parkville, Victoria, Australia.
authors.forename: J C
authors.initials: JC
authors.lastname: Coakley
authors.forename: E H
authors.initials: EH
authors.lastname: Keir
authors.forename: J F
authors.initials: JF
authors.lastname: Connelly
mesh_terms: D003638:Deafness / Q000453:epidemiology*; D005260:Female; D006042:Goiter / Q000453:epidemiology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D013577:Syndrome; D014739:Victoria / Q000453:epidemiology