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High prevalence of congenital hypothyroidism in Isfahan: Do familial components have a role?

BACKGROUND: Despite elimination of iodine deficiency, the rates of both permanent and transient congenital hypothyroidism (CH) in our study were higher than the comparable worldwide rates, which emphasize the major role of genetic factors in the pathogenesis of CH and many studies in this regard con...

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Autores principales: Hashemipour, Mahin, Hovsepian, Silva, Kelishadi, Roya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3544130/
https://www.ncbi.nlm.nih.gov/pubmed/23326768
http://dx.doi.org/10.4103/2277-9175.100130
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author Hashemipour, Mahin
Hovsepian, Silva
Kelishadi, Roya
author_facet Hashemipour, Mahin
Hovsepian, Silva
Kelishadi, Roya
author_sort Hashemipour, Mahin
collection PubMed
description BACKGROUND: Despite elimination of iodine deficiency, the rates of both permanent and transient congenital hypothyroidism (CH) in our study were higher than the comparable worldwide rates, which emphasize the major role of genetic factors in the pathogenesis of CH and many studies in this regard confirm this possibility. MATERIALS AND METHODS: In this review, we report all studies that established during CH screening program regarding familial and genetic component of the disease. RESULTS: Although we could not entirely ignore the possible role of environmental and autoimmune factors in the development and function of thyroid gland, our findings strongly suggest the role of genetic factors as dominant etiologic factor in CH. CONCLUSION: The studies support the existence of a familial component of CH involving dominant genetic predisposition factors with a low penetrance. Considering the polygenic/multifactorial basis of CH, they suggest the possible involvement of other unknown genes in the pathogenesis of the disease, which may also follow non-Mendelian pattern of inheritance.
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spelling pubmed-35441302013-01-16 High prevalence of congenital hypothyroidism in Isfahan: Do familial components have a role? Hashemipour, Mahin Hovsepian, Silva Kelishadi, Roya Adv Biomed Res Original Article BACKGROUND: Despite elimination of iodine deficiency, the rates of both permanent and transient congenital hypothyroidism (CH) in our study were higher than the comparable worldwide rates, which emphasize the major role of genetic factors in the pathogenesis of CH and many studies in this regard confirm this possibility. MATERIALS AND METHODS: In this review, we report all studies that established during CH screening program regarding familial and genetic component of the disease. RESULTS: Although we could not entirely ignore the possible role of environmental and autoimmune factors in the development and function of thyroid gland, our findings strongly suggest the role of genetic factors as dominant etiologic factor in CH. CONCLUSION: The studies support the existence of a familial component of CH involving dominant genetic predisposition factors with a low penetrance. Considering the polygenic/multifactorial basis of CH, they suggest the possible involvement of other unknown genes in the pathogenesis of the disease, which may also follow non-Mendelian pattern of inheritance. Medknow Publications & Media Pvt Ltd 2012-08-28 /pmc/articles/PMC3544130/ /pubmed/23326768 http://dx.doi.org/10.4103/2277-9175.100130 Text en Copyright: © 2012 Hashemipour http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Original Article
Hashemipour, Mahin
Hovsepian, Silva
Kelishadi, Roya
High prevalence of congenital hypothyroidism in Isfahan: Do familial components have a role?
title High prevalence of congenital hypothyroidism in Isfahan: Do familial components have a role?
title_full High prevalence of congenital hypothyroidism in Isfahan: Do familial components have a role?
title_fullStr High prevalence of congenital hypothyroidism in Isfahan: Do familial components have a role?
title_full_unstemmed High prevalence of congenital hypothyroidism in Isfahan: Do familial components have a role?
title_short High prevalence of congenital hypothyroidism in Isfahan: Do familial components have a role?
title_sort high prevalence of congenital hypothyroidism in isfahan: do familial components have a role?
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3544130/
https://www.ncbi.nlm.nih.gov/pubmed/23326768
http://dx.doi.org/10.4103/2277-9175.100130
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