R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children
The most common congenital endocrine disorder, congenital hypothyroidism (CHT), is strongly associated with thyroid hormone deficiency. Previous studies have indicated that mutations of thyroid stimulation hormone receptor (TSHR) are a risk factor for the development of congenital hypothyroidism. On...
Gespeichert in:
| Veröffentlicht in: | Clinica chimica acta 2012-06, Vol.413 (11-12), p.1004-1007 |
|---|---|
| Hauptverfasser: | , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 1007 |
|---|---|
| container_issue | 11-12 |
| container_start_page | 1004 |
| container_title | Clinica chimica acta |
| container_volume | 413 |
| creator | Chang, Wei-Chiao Liao, Cheng-Yu Chen, Wei-Chiao Fan, Yung-Ching Chiu, Siou-Jin Kuo, Ho-Chang Woon, Peng-Yeong Chao, Mei-Chyn |
| description | The most common congenital endocrine disorder, congenital hypothyroidism (CHT), is strongly associated with thyroid hormone deficiency. Previous studies have indicated that mutations of thyroid stimulation hormone receptor (TSHR) are a risk factor for the development of congenital hypothyroidism. One mutation of TSHR, p.R450H, is particularly frequent in Japanese children with CHT. However, the frequency of this TSHR mutation among Taiwanese patients with CHT is unclear.
We enrolled 149 CHT patients and 334 healthy subjects who volunteered to participate in health screening examinations. We characterized the clinical status of CHT patients with the TSHR mutations.
There was a significant association between the TSHR mutation (p.R450H) and the risk of CHT (P=0.0008 under the dominant model and P=0.0002 under the allelic model). The frequency of homozygous p.R450H in the CHT patients was 1.4% and that of heterozygous p.R450H was 5.6%. All five patients had elevated serum TSH levels. However, there was no difference in TSH levels between those with heterozygous and homozygous p.R450H mutations.
Approximately 7% of the patients in this study with CHT had heterozygous or homozygous TSHR mutations (c.1349G>A, p.R450H). Consistent with previous reports on Japanese populations, this mutation was relatively important in the Taiwanese children with CHT.
► We analyzed the TSHR (p.R450H) mutation frequency in CHT patients in the Taiwanese population. ► The frequency of homozygous p.R450H in the CHT patients was 1.4%. ► There was no difference in TSH levels between those with heterozygous and homozygous p.R450H mutations. |
| doi_str_mv | 10.1016/j.cca.2012.02.027 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_964198373</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S000989811200109X</els_id><sourcerecordid>964198373</sourcerecordid><originalsourceid>FETCH-LOGICAL-c418t-e857e3992fc09c00ff84b5c5abf4f9ab3c0303875961e175179091bdabf21b9f3</originalsourceid><addsrcrecordid>eNp9kE9Lw0AQxRdRbK1-AC-Sm6fE2Wz-LZ6kqBWKgtbzstlM7JYkW3cTpd_eDa0ehYFheG8eMz9CLilEFGh2s4mUklEMNI5grPyITGmRs5AlPD4mUwDgYcELOiFnzm38mEBGT8kkjhNIOWNT8vyapLAIVm-LwKLCbW9s0A697LXpAt0FynQf2OleNsF6tzX9emeNrrRrR3El9bfs0GGg1rqpLHbn5KSWjcOLQ5-R94f71XwRLl8en-Z3y1AltOhDLNIcGedxrYArgLoukjJVqSzrpOayZAoYsCJPeUaR5inNOXBaVl6PaclrNiPX-9ytNZ8Dul602ilsGn-OGZzgWUJ5wXLmnXTvVNY4Z7EWW6tbaXeCghgpio3wFMVIUcBYud-5OqQPZYvV38YvNm-43RvQ__il0QqnNHYKK-0p9qIy-p_4HzLJgdI</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>964198373</pqid></control><display><type>article</type><title>R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children</title><source>MEDLINE</source><source>Elsevier ScienceDirect Journals</source><creator>Chang, Wei-Chiao ; Liao, Cheng-Yu ; Chen, Wei-Chiao ; Fan, Yung-Ching ; Chiu, Siou-Jin ; Kuo, Ho-Chang ; Woon, Peng-Yeong ; Chao, Mei-Chyn</creator><creatorcontrib>Chang, Wei-Chiao ; Liao, Cheng-Yu ; Chen, Wei-Chiao ; Fan, Yung-Ching ; Chiu, Siou-Jin ; Kuo, Ho-Chang ; Woon, Peng-Yeong ; Chao, Mei-Chyn</creatorcontrib><description>The most common congenital endocrine disorder, congenital hypothyroidism (CHT), is strongly associated with thyroid hormone deficiency. Previous studies have indicated that mutations of thyroid stimulation hormone receptor (TSHR) are a risk factor for the development of congenital hypothyroidism. One mutation of TSHR, p.R450H, is particularly frequent in Japanese children with CHT. However, the frequency of this TSHR mutation among Taiwanese patients with CHT is unclear.
We enrolled 149 CHT patients and 334 healthy subjects who volunteered to participate in health screening examinations. We characterized the clinical status of CHT patients with the TSHR mutations.
There was a significant association between the TSHR mutation (p.R450H) and the risk of CHT (P=0.0008 under the dominant model and P=0.0002 under the allelic model). The frequency of homozygous p.R450H in the CHT patients was 1.4% and that of heterozygous p.R450H was 5.6%. All five patients had elevated serum TSH levels. However, there was no difference in TSH levels between those with heterozygous and homozygous p.R450H mutations.
Approximately 7% of the patients in this study with CHT had heterozygous or homozygous TSHR mutations (c.1349G>A, p.R450H). Consistent with previous reports on Japanese populations, this mutation was relatively important in the Taiwanese children with CHT.
► We analyzed the TSHR (p.R450H) mutation frequency in CHT patients in the Taiwanese population. ► The frequency of homozygous p.R450H in the CHT patients was 1.4%. ► There was no difference in TSH levels between those with heterozygous and homozygous p.R450H mutations.</description><identifier>ISSN: 0009-8981</identifier><identifier>EISSN: 1873-3492</identifier><identifier>DOI: 10.1016/j.cca.2012.02.027</identifier><identifier>PMID: 22405933</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Adolescent ; Adult ; Asian Continental Ancestry Group - genetics ; Child ; Child, Preschool ; Congenital hypothyroidism ; Congenital Hypothyroidism - etiology ; Congenital Hypothyroidism - genetics ; Female ; Gene Frequency ; Genetic mutation ; Heterozygote ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Receptors, Thyrotropin - genetics ; Reference Values ; Taiwan ; Thyrotropin - blood ; TSH receptor ; Young Adult</subject><ispartof>Clinica chimica acta, 2012-06, Vol.413 (11-12), p.1004-1007</ispartof><rights>2012 Elsevier B.V.</rights><rights>Copyright © 2012 Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c418t-e857e3992fc09c00ff84b5c5abf4f9ab3c0303875961e175179091bdabf21b9f3</citedby><cites>FETCH-LOGICAL-c418t-e857e3992fc09c00ff84b5c5abf4f9ab3c0303875961e175179091bdabf21b9f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S000989811200109X$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3536,27903,27904,65309</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22405933$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chang, Wei-Chiao</creatorcontrib><creatorcontrib>Liao, Cheng-Yu</creatorcontrib><creatorcontrib>Chen, Wei-Chiao</creatorcontrib><creatorcontrib>Fan, Yung-Ching</creatorcontrib><creatorcontrib>Chiu, Siou-Jin</creatorcontrib><creatorcontrib>Kuo, Ho-Chang</creatorcontrib><creatorcontrib>Woon, Peng-Yeong</creatorcontrib><creatorcontrib>Chao, Mei-Chyn</creatorcontrib><title>R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children</title><title>Clinica chimica acta</title><addtitle>Clin Chim Acta</addtitle><description>The most common congenital endocrine disorder, congenital hypothyroidism (CHT), is strongly associated with thyroid hormone deficiency. Previous studies have indicated that mutations of thyroid stimulation hormone receptor (TSHR) are a risk factor for the development of congenital hypothyroidism. One mutation of TSHR, p.R450H, is particularly frequent in Japanese children with CHT. However, the frequency of this TSHR mutation among Taiwanese patients with CHT is unclear.
We enrolled 149 CHT patients and 334 healthy subjects who volunteered to participate in health screening examinations. We characterized the clinical status of CHT patients with the TSHR mutations.
There was a significant association between the TSHR mutation (p.R450H) and the risk of CHT (P=0.0008 under the dominant model and P=0.0002 under the allelic model). The frequency of homozygous p.R450H in the CHT patients was 1.4% and that of heterozygous p.R450H was 5.6%. All five patients had elevated serum TSH levels. However, there was no difference in TSH levels between those with heterozygous and homozygous p.R450H mutations.
Approximately 7% of the patients in this study with CHT had heterozygous or homozygous TSHR mutations (c.1349G>A, p.R450H). Consistent with previous reports on Japanese populations, this mutation was relatively important in the Taiwanese children with CHT.
► We analyzed the TSHR (p.R450H) mutation frequency in CHT patients in the Taiwanese population. ► The frequency of homozygous p.R450H in the CHT patients was 1.4%. ► There was no difference in TSH levels between those with heterozygous and homozygous p.R450H mutations.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Congenital hypothyroidism</subject><subject>Congenital Hypothyroidism - etiology</subject><subject>Congenital Hypothyroidism - genetics</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Genetic mutation</subject><subject>Heterozygote</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Mutation</subject><subject>Receptors, Thyrotropin - genetics</subject><subject>Reference Values</subject><subject>Taiwan</subject><subject>Thyrotropin - blood</subject><subject>TSH receptor</subject><subject>Young Adult</subject><issn>0009-8981</issn><issn>1873-3492</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE9Lw0AQxRdRbK1-AC-Sm6fE2Wz-LZ6kqBWKgtbzstlM7JYkW3cTpd_eDa0ehYFheG8eMz9CLilEFGh2s4mUklEMNI5grPyITGmRs5AlPD4mUwDgYcELOiFnzm38mEBGT8kkjhNIOWNT8vyapLAIVm-LwKLCbW9s0A697LXpAt0FynQf2OleNsF6tzX9emeNrrRrR3El9bfs0GGg1rqpLHbn5KSWjcOLQ5-R94f71XwRLl8en-Z3y1AltOhDLNIcGedxrYArgLoukjJVqSzrpOayZAoYsCJPeUaR5inNOXBaVl6PaclrNiPX-9ytNZ8Dul602ilsGn-OGZzgWUJ5wXLmnXTvVNY4Z7EWW6tbaXeCghgpio3wFMVIUcBYud-5OqQPZYvV38YvNm-43RvQ__il0QqnNHYKK-0p9qIy-p_4HzLJgdI</recordid><startdate>20120614</startdate><enddate>20120614</enddate><creator>Chang, Wei-Chiao</creator><creator>Liao, Cheng-Yu</creator><creator>Chen, Wei-Chiao</creator><creator>Fan, Yung-Ching</creator><creator>Chiu, Siou-Jin</creator><creator>Kuo, Ho-Chang</creator><creator>Woon, Peng-Yeong</creator><creator>Chao, Mei-Chyn</creator><general>Elsevier B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20120614</creationdate><title>R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children</title><author>Chang, Wei-Chiao ; Liao, Cheng-Yu ; Chen, Wei-Chiao ; Fan, Yung-Ching ; Chiu, Siou-Jin ; Kuo, Ho-Chang ; Woon, Peng-Yeong ; Chao, Mei-Chyn</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c418t-e857e3992fc09c00ff84b5c5abf4f9ab3c0303875961e175179091bdabf21b9f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Congenital hypothyroidism</topic><topic>Congenital Hypothyroidism - etiology</topic><topic>Congenital Hypothyroidism - genetics</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>Genetic mutation</topic><topic>Heterozygote</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Mutation</topic><topic>Receptors, Thyrotropin - genetics</topic><topic>Reference Values</topic><topic>Taiwan</topic><topic>Thyrotropin - blood</topic><topic>TSH receptor</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chang, Wei-Chiao</creatorcontrib><creatorcontrib>Liao, Cheng-Yu</creatorcontrib><creatorcontrib>Chen, Wei-Chiao</creatorcontrib><creatorcontrib>Fan, Yung-Ching</creatorcontrib><creatorcontrib>Chiu, Siou-Jin</creatorcontrib><creatorcontrib>Kuo, Ho-Chang</creatorcontrib><creatorcontrib>Woon, Peng-Yeong</creatorcontrib><creatorcontrib>Chao, Mei-Chyn</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Clinica chimica acta</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chang, Wei-Chiao</au><au>Liao, Cheng-Yu</au><au>Chen, Wei-Chiao</au><au>Fan, Yung-Ching</au><au>Chiu, Siou-Jin</au><au>Kuo, Ho-Chang</au><au>Woon, Peng-Yeong</au><au>Chao, Mei-Chyn</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children</atitle><jtitle>Clinica chimica acta</jtitle><addtitle>Clin Chim Acta</addtitle><date>2012-06-14</date><risdate>2012</risdate><volume>413</volume><issue>11-12</issue><spage>1004</spage><epage>1007</epage><pages>1004-1007</pages><issn>0009-8981</issn><eissn>1873-3492</eissn><abstract>The most common congenital endocrine disorder, congenital hypothyroidism (CHT), is strongly associated with thyroid hormone deficiency. Previous studies have indicated that mutations of thyroid stimulation hormone receptor (TSHR) are a risk factor for the development of congenital hypothyroidism. One mutation of TSHR, p.R450H, is particularly frequent in Japanese children with CHT. However, the frequency of this TSHR mutation among Taiwanese patients with CHT is unclear.
We enrolled 149 CHT patients and 334 healthy subjects who volunteered to participate in health screening examinations. We characterized the clinical status of CHT patients with the TSHR mutations.
There was a significant association between the TSHR mutation (p.R450H) and the risk of CHT (P=0.0008 under the dominant model and P=0.0002 under the allelic model). The frequency of homozygous p.R450H in the CHT patients was 1.4% and that of heterozygous p.R450H was 5.6%. All five patients had elevated serum TSH levels. However, there was no difference in TSH levels between those with heterozygous and homozygous p.R450H mutations.
Approximately 7% of the patients in this study with CHT had heterozygous or homozygous TSHR mutations (c.1349G>A, p.R450H). Consistent with previous reports on Japanese populations, this mutation was relatively important in the Taiwanese children with CHT.
► We analyzed the TSHR (p.R450H) mutation frequency in CHT patients in the Taiwanese population. ► The frequency of homozygous p.R450H in the CHT patients was 1.4%. ► There was no difference in TSH levels between those with heterozygous and homozygous p.R450H mutations.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>22405933</pmid><doi>10.1016/j.cca.2012.02.027</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0009-8981 |
| ispartof | Clinica chimica acta, 2012-06, Vol.413 (11-12), p.1004-1007 |
| issn | 0009-8981 1873-3492 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_964198373 |
| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adolescent Adult Asian Continental Ancestry Group - genetics Child Child, Preschool Congenital hypothyroidism Congenital Hypothyroidism - etiology Congenital Hypothyroidism - genetics Female Gene Frequency Genetic mutation Heterozygote Homozygote Humans Infant Infant, Newborn Male Mutation Receptors, Thyrotropin - genetics Reference Values Taiwan Thyrotropin - blood TSH receptor Young Adult |
| title | R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-25T16%3A49%3A11IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=R450H%20TSH%20receptor%20mutation%20in%20congenital%20hypothyroidism%20in%20Taiwanese%20children&rft.jtitle=Clinica%20chimica%20acta&rft.au=Chang,%20Wei-Chiao&rft.date=2012-06-14&rft.volume=413&rft.issue=11-12&rft.spage=1004&rft.epage=1007&rft.pages=1004-1007&rft.issn=0009-8981&rft.eissn=1873-3492&rft_id=info:doi/10.1016/j.cca.2012.02.027&rft_dat=%3Cproquest_cross%3E964198373%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=964198373&rft_id=info:pmid/22405933&rft_els_id=S000989811200109X&rfr_iscdi=true |