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Congenital hypothyroidism
Congenital hypothyroidism (CH) is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis) that is a sporadic disorder and accounts for 85% of cases and the remaining 15% of case...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319261/ https://www.ncbi.nlm.nih.gov/pubmed/25729683 http://dx.doi.org/10.4103/2230-8210.131748 |
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author | Agrawal, Pankaj Philip, Rajeev Saran, Sanjay Gutch, Manish Razi, Mohd Sayed Agroiya, Puspalata Gupta, Keshavkumar |
author_facet | Agrawal, Pankaj Philip, Rajeev Saran, Sanjay Gutch, Manish Razi, Mohd Sayed Agroiya, Puspalata Gupta, Keshavkumar |
author_sort | Agrawal, Pankaj |
collection | PubMed |
description | Congenital hypothyroidism (CH) is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis) that is a sporadic disorder and accounts for 85% of cases and the remaining 15% of cases are caused by dyshormonogenesis. The clinical features of congenital hypothyroidism are so subtle that many newborn infants remain undiagnosed at birth and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Dried capillary blood is used for screening and it is taken from heel prick optimally between 2 and 5 days of age. Blood spot TSH or thyroxine (T4) or both are being used for CH screening in different programs around the world. Neonates with abnormal thyroid screening tests should be recalled immediately for examination and a venipuncture blood sample should be drawn for confirmatory serum testing. Confirmatory serum should be tested for TSH and free T4, or total T4. Serum TSH and T4 undergo dynamic changes in the first weeks of life; it is important to compare serum results with age-normal reference ranges. Treatment should be started promptly and infant should be rendered euthyroid as early as possible, as there is an inverse relationship between intelligence quotient (IQ) and the age at diagnosis. Levothyroxine (l-thyroxine) is the treatment of choice and American academy of pediatrics and European society of pediatric endocrinology recommend 10-15μgm/kg/day as initial dose. The immediate goal of therapy is to normalize T4 within 2 weeks and TSH within one month. The overall goal of treatment is to ensure growth and neurodevelopmental outcomes as close as possible to their genetic potential. |
format | Online Article Text |
id | pubmed-4319261 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-43192612015-03-01 Congenital hypothyroidism Agrawal, Pankaj Philip, Rajeev Saran, Sanjay Gutch, Manish Razi, Mohd Sayed Agroiya, Puspalata Gupta, Keshavkumar Indian J Endocrinol Metab Review Article Congenital hypothyroidism (CH) is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis) that is a sporadic disorder and accounts for 85% of cases and the remaining 15% of cases are caused by dyshormonogenesis. The clinical features of congenital hypothyroidism are so subtle that many newborn infants remain undiagnosed at birth and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Dried capillary blood is used for screening and it is taken from heel prick optimally between 2 and 5 days of age. Blood spot TSH or thyroxine (T4) or both are being used for CH screening in different programs around the world. Neonates with abnormal thyroid screening tests should be recalled immediately for examination and a venipuncture blood sample should be drawn for confirmatory serum testing. Confirmatory serum should be tested for TSH and free T4, or total T4. Serum TSH and T4 undergo dynamic changes in the first weeks of life; it is important to compare serum results with age-normal reference ranges. Treatment should be started promptly and infant should be rendered euthyroid as early as possible, as there is an inverse relationship between intelligence quotient (IQ) and the age at diagnosis. Levothyroxine (l-thyroxine) is the treatment of choice and American academy of pediatrics and European society of pediatric endocrinology recommend 10-15μgm/kg/day as initial dose. The immediate goal of therapy is to normalize T4 within 2 weeks and TSH within one month. The overall goal of treatment is to ensure growth and neurodevelopmental outcomes as close as possible to their genetic potential. Medknow Publications & Media Pvt Ltd 2015 /pmc/articles/PMC4319261/ /pubmed/25729683 http://dx.doi.org/10.4103/2230-8210.131748 Text en Copyright: © Indian Journal of Endocrinology and Metabolism http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Article Agrawal, Pankaj Philip, Rajeev Saran, Sanjay Gutch, Manish Razi, Mohd Sayed Agroiya, Puspalata Gupta, Keshavkumar Congenital hypothyroidism |
title | Congenital hypothyroidism |
title_full | Congenital hypothyroidism |
title_fullStr | Congenital hypothyroidism |
title_full_unstemmed | Congenital hypothyroidism |
title_short | Congenital hypothyroidism |
title_sort | congenital hypothyroidism |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319261/ https://www.ncbi.nlm.nih.gov/pubmed/25729683 http://dx.doi.org/10.4103/2230-8210.131748 |
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