Clinical Relevance of Molecular Diagnosis in Patients with Congenital Hypothyroidism

NICOLA, JP

Journal of Molecular and Genetic Medicine

OMICS International

Año: 2017 vol. 11

p>Congenital hypothyroidism, defined as the functional deficiency of thyroid hormones present at birth, occurs in approximately 1: 2,000 to 4,000 newborns. Thyroid hormones play an essential role in the maturation of the central nervous system. Congenital hypothyroidism results in severe neurodevelopmental impairment if untreated and, therefore constitutes the most common preventable endocrine cause of irreversible mental retardation. As clinical diagnosis of hypothyroidism in the newborn period is almost always overlooked, newborn screening programs seeking to identify elevated thyrotropin levels at birth are available to detect primary congenital hypothyroidism mainly. Significantly, early onset on levothyroxine replacement therapy virtually abolishes severe intellectual development.Conge