Abstract

PINZON-SERRANO, Estefanía; MORAN-BARROSO, Verónica  and  COYOTE-ESTRADA, Ninel. Molecular bases of congenital hypothyroidism. Bol. Med. Hosp. Infant. Mex. [online]. 2006, vol.63, n.5, pp.332-350. ISSN 1665-1146.

The endocrinological disorders constitute an important percentage of the pediatric consultations. The most frequently endocrinopathy is congenital hypothyroidism, which is considered a public health problem. Newborn screening is mandatory in Mexico. The advances in the molecular field have allowed differentiating among the alterations caused by this disease with especial relevance in the organogénesis and homonogenesis. In this review, the main molecular alterations are analyzed, describing their relationship with thyroid cellular differentiation, hormonal synthesis, central origin hypothyroidism and peripheral tissues target. The study of the molecular abnormalities open new possibilities as to the precise knowledge of the physiopathological and molecular processes. A better and earlier diagnosis and management of this pathology may arise, which in turn will prevent the severe sequelae that congenital hypothyroidism causes.

Keywords : Congenital hypothyroidism; mutations; NKX2.1; FOXE1; PAX8; dyshormonogenesis.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )