The C105fs114X Is the Prevalent Thyrotropin Beta-Subunit Gene Mutation in Argentinean Patients with Congenital Central Hypothyroidism

Abstract

Our findings show that the C105fs114X mutation is prevalent in our population and may constitute a hot spot at codon 105 in the beta-TSH gene. Since this mutation is easily demonstrable by a SNABI digestion in DNA amplified from dried blood spots, its investigation would be indicated in patients in our milieu with clinical and biochemical features of CCH, allowing early L-thyroxine (LT(4)) replacement and genetic counseling of the family.