Familial thyroxine-binding globulin deficiency detected in a pilot screening program for congenital hypothyroidism

Emanuele Gilardi, Costantino Romagnoli, M Carta Sorcini, L Moschini, L Fiore, S Tomarchio, Mg Di Irio, V Currò, S. Carta

Risultato della ricerca: Contributo in rivistaArticolo in rivista

5 Citazioni (Scopus)

Abstract

During a pilot screening program for congenital hypothyroidism, performed in Italy over a three years period on 38,000 newborns, seven cases (1/5,400) of thyroxine-binding globulin (TBG) deficiency, have been detected. None of these infants was affected by any pathology or had been treated with drugs which could explain TBG deficiency as an acquired condition. Familial studies pointed out that the transmission of the defect is consistent or compatible with X-chromosome linkage.
Lingua originaleEnglish
pagine (da-a)21-25
Numero di pagine5
RivistaJournal of Endocrinological Investigation
Volume5
Stato di pubblicazionePubblicato - 1982

Keywords

  • Congenital Hypothyroidism
  • Female
  • Heterozygote
  • Humans
  • Hypothyroidism
  • Infant, Newborn
  • Male
  • Thyroxine-Binding Proteins

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