Genetics of Primary Congenital Hypothyroidism.
Pediatr Endocrinol Rev
; 15(3): 200-215, 2018 Mar.
Article
em En
| MEDLINE
| ID: mdl-29493125
ABSTRACT
Congenital hypothyroidism (CH) is one of the most common preventable forms of mental retardation and since the implementation of neonatal screening programs in the mid-1970s, early detection and treatment have proven to be very successful in preventing brain damage. CH may be of thyroidal (= primary) or of hypothalamic-pituitary (= central) origin. Primary CH may be due to abnormal thyroid gland formation (dysgenesis) or defective thyroid hormone syntheses by a structurally normal gland (dyshormonogenesis). While thyroid dysgenesis is the most common form of CH, accounting for approximately 85% of cases, genetic defects are only found in a very low proportion of patients. On the other hand, thyroid dyshormonogenesis is less common, but is usually a genetic condition with autosomal recessive inheritance. In this review we provide an overview of all known monogenetic causes of primary CH, including promising new candidate genes. In addition, alternative genetic mechanisms are discussed.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hipotireoidismo Congênito
Tipo de estudo:
Screening_studies
Limite:
Humans
/
Newborn
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article