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dc.contributor.author
Nicola, Juan Pablo
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dc.date.available
2018-05-30T21:10:58Z
dc.date.issued
2017-05
dc.identifier.citation
Nicola, Juan Pablo; Clinical Relevance of Molecular Diagnosis in Patients with Congenital Hypothyroidism; OMICS International; Journal of Molecular and Genetic Medicine; 11; 1; 5-2017
dc.identifier.issn
1747-0862
dc.identifier.uri
http://hdl.handle.net/11336/46741
dc.description.abstract
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. Congenital hypothyroidism is caused by genetic defects occurring at three different levels, including the hypothalamic-pituitary axis, the thyroid gland, and the peripheral tissues. Up to date, 30 monogenic forms of congenital hypothyroidism have been reported in individuals with thyroid dysgenesis, thyroid dyshormonogenesis, central and peripheral hypothyroidism, highlighting the genetic heterogeneity of the disease. This mini-review summarizes the latest advances in the genetic basis of monogenic forms of congenital hypothyroidism and novel strategies to uncover the molecular etiology of the disease. Moreover, the article provides the current knowledge and future perspectives on the clinical relevance of the molecular diagnosis in patients with congenital hypothyroidism.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
OMICS International
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Congenital Hypothyroidism
dc.subject
Thyroid Hormones
dc.subject
Genetic Basis
dc.subject
Molecular Diagnosis
dc.subject.classification
Inmunología
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dc.subject.classification
Medicina Básica
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dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
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dc.title
Clinical Relevance of Molecular Diagnosis in Patients with Congenital Hypothyroidism
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-05-29T20:56:26Z
dc.journal.volume
11
dc.journal.number
1
dc.journal.pais
Estados Unidos
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dc.description.fil
Fil: Nicola, Juan Pablo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina
dc.journal.title
Journal of Molecular and Genetic Medicine
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.omicsonline.com/open-access/clinical-relevance-of-molecular-diagnosis-in-patients-with-congenitalhypothyroidism-1747-0862-1000240.php?aid=84945
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.4172/1747-0862.1000240
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