The SHOX gene: a new indication for GH treatment
Short stature homeobox-containing (SHOX) gene mutations causing haploinsufficiency have been reported in idiopathic short stature, but the real prevalence of this defect in the population with growth failure is debated. Based on current data, the prevalence of SHOXdefect (SHOX-D) has been calculated...
Gespeichert in:
| Veröffentlicht in: | Journal of endocrinological investigation 2010-06, Vol.33 (6 Suppl), p.15-18 |
|---|---|
| Hauptverfasser: | , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 18 |
|---|---|
| container_issue | 6 Suppl |
| container_start_page | 15 |
| container_title | Journal of endocrinological investigation |
| container_volume | 33 |
| creator | Cicognani, A Pirazzoli, P Nicoletti, A Baronio, F Conti, V Bonetti, S |
| description | Short stature homeobox-containing (SHOX) gene mutations causing haploinsufficiency have been reported in idiopathic short stature, but the real prevalence of this defect in the population with growth failure is debated. Based on current data, the prevalence of SHOXdefect (SHOX-D) has been calculated to have occurred in at least 1 in 2,000 children. This occurrence rate is higher than that of classic GH deficiency or Turner syndrome. In all probability, the real prevalence of SHOX-D will increase in the future with the improvement of the genetic analysis with investigations for point mutations in the enhancer sequences or for deletions in other parts of this region. A selection criterion to individuate the most appropriate candidates eligible for the SHOX region analysis has been suggested based on the evaluation of a disproportional short stature. The efficacy of GH treatment in these patients has recently been demonstrated with results that are similar to those observed in Turner syndrome. |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_proquest_miscellaneous_1027373790</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1027373790</sourcerecordid><originalsourceid>FETCH-LOGICAL-p126t-6700210b1cfe8f6baf02d8ca4cfa9f3811e5ddb56b95b2345d72ff0c1bc3b4993</originalsourceid><addsrcrecordid>eNo1j81KxDAURoMgzjj6CpKlm8JN0japOxl0OjAwC0dwV_Jzo5U2rU2K-PYWHFff5vAdzgVZM8khU0KVK3Id4yeAkELJK7LiDArJFKwJnD6QvtTHN_qOAR-opgG_aRtca3Vqh0D9MNFdTdOEOvUY0g259LqLeHveDXl9fjpt6-xw3O23j4dsZLxMWSkBFoth1qPypdEeuFNW59brygvFGBbOmaI0VWG4yAsnufdgmbHC5FUlNuT-73echq8ZY2r6NlrsOh1wmGPDgMslR1awoHdndDY9umac2l5PP81_pfgFUdxLKw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1027373790</pqid></control><display><type>article</type><title>The SHOX gene: a new indication for GH treatment</title><source>MEDLINE</source><source>SpringerLink Journals - AutoHoldings</source><creator>Cicognani, A ; Pirazzoli, P ; Nicoletti, A ; Baronio, F ; Conti, V ; Bonetti, S</creator><creatorcontrib>Cicognani, A ; Pirazzoli, P ; Nicoletti, A ; Baronio, F ; Conti, V ; Bonetti, S</creatorcontrib><description>Short stature homeobox-containing (SHOX) gene mutations causing haploinsufficiency have been reported in idiopathic short stature, but the real prevalence of this defect in the population with growth failure is debated. Based on current data, the prevalence of SHOXdefect (SHOX-D) has been calculated to have occurred in at least 1 in 2,000 children. This occurrence rate is higher than that of classic GH deficiency or Turner syndrome. In all probability, the real prevalence of SHOX-D will increase in the future with the improvement of the genetic analysis with investigations for point mutations in the enhancer sequences or for deletions in other parts of this region. A selection criterion to individuate the most appropriate candidates eligible for the SHOX region analysis has been suggested based on the evaluation of a disproportional short stature. The efficacy of GH treatment in these patients has recently been demonstrated with results that are similar to those observed in Turner syndrome.</description><identifier>EISSN: 1720-8386</identifier><identifier>PMID: 21057180</identifier><language>eng</language><publisher>Italy</publisher><subject>Deficiency Diseases - drug therapy ; Deficiency Diseases - genetics ; Enhancer Elements, Genetic - genetics ; Female ; Gene Deletion ; Genetic Testing ; Growth Hormone - therapeutic use ; Haploinsufficiency - genetics ; Homeodomain Proteins - genetics ; Humans ; Male ; Mutation - genetics ; Short Stature Homeobox Protein</subject><ispartof>Journal of endocrinological investigation, 2010-06, Vol.33 (6 Suppl), p.15-18</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21057180$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cicognani, A</creatorcontrib><creatorcontrib>Pirazzoli, P</creatorcontrib><creatorcontrib>Nicoletti, A</creatorcontrib><creatorcontrib>Baronio, F</creatorcontrib><creatorcontrib>Conti, V</creatorcontrib><creatorcontrib>Bonetti, S</creatorcontrib><title>The SHOX gene: a new indication for GH treatment</title><title>Journal of endocrinological investigation</title><addtitle>J Endocrinol Invest</addtitle><description>Short stature homeobox-containing (SHOX) gene mutations causing haploinsufficiency have been reported in idiopathic short stature, but the real prevalence of this defect in the population with growth failure is debated. Based on current data, the prevalence of SHOXdefect (SHOX-D) has been calculated to have occurred in at least 1 in 2,000 children. This occurrence rate is higher than that of classic GH deficiency or Turner syndrome. In all probability, the real prevalence of SHOX-D will increase in the future with the improvement of the genetic analysis with investigations for point mutations in the enhancer sequences or for deletions in other parts of this region. A selection criterion to individuate the most appropriate candidates eligible for the SHOX region analysis has been suggested based on the evaluation of a disproportional short stature. The efficacy of GH treatment in these patients has recently been demonstrated with results that are similar to those observed in Turner syndrome.</description><subject>Deficiency Diseases - drug therapy</subject><subject>Deficiency Diseases - genetics</subject><subject>Enhancer Elements, Genetic - genetics</subject><subject>Female</subject><subject>Gene Deletion</subject><subject>Genetic Testing</subject><subject>Growth Hormone - therapeutic use</subject><subject>Haploinsufficiency - genetics</subject><subject>Homeodomain Proteins - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Mutation - genetics</subject><subject>Short Stature Homeobox Protein</subject><issn>1720-8386</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1j81KxDAURoMgzjj6CpKlm8JN0japOxl0OjAwC0dwV_Jzo5U2rU2K-PYWHFff5vAdzgVZM8khU0KVK3Id4yeAkELJK7LiDArJFKwJnD6QvtTHN_qOAR-opgG_aRtca3Vqh0D9MNFdTdOEOvUY0g259LqLeHveDXl9fjpt6-xw3O23j4dsZLxMWSkBFoth1qPypdEeuFNW59brygvFGBbOmaI0VWG4yAsnufdgmbHC5FUlNuT-73echq8ZY2r6NlrsOh1wmGPDgMslR1awoHdndDY9umac2l5PP81_pfgFUdxLKw</recordid><startdate>201006</startdate><enddate>201006</enddate><creator>Cicognani, A</creator><creator>Pirazzoli, P</creator><creator>Nicoletti, A</creator><creator>Baronio, F</creator><creator>Conti, V</creator><creator>Bonetti, S</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>201006</creationdate><title>The SHOX gene: a new indication for GH treatment</title><author>Cicognani, A ; Pirazzoli, P ; Nicoletti, A ; Baronio, F ; Conti, V ; Bonetti, S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p126t-6700210b1cfe8f6baf02d8ca4cfa9f3811e5ddb56b95b2345d72ff0c1bc3b4993</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Deficiency Diseases - drug therapy</topic><topic>Deficiency Diseases - genetics</topic><topic>Enhancer Elements, Genetic - genetics</topic><topic>Female</topic><topic>Gene Deletion</topic><topic>Genetic Testing</topic><topic>Growth Hormone - therapeutic use</topic><topic>Haploinsufficiency - genetics</topic><topic>Homeodomain Proteins - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Mutation - genetics</topic><topic>Short Stature Homeobox Protein</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cicognani, A</creatorcontrib><creatorcontrib>Pirazzoli, P</creatorcontrib><creatorcontrib>Nicoletti, A</creatorcontrib><creatorcontrib>Baronio, F</creatorcontrib><creatorcontrib>Conti, V</creatorcontrib><creatorcontrib>Bonetti, S</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of endocrinological investigation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cicognani, A</au><au>Pirazzoli, P</au><au>Nicoletti, A</au><au>Baronio, F</au><au>Conti, V</au><au>Bonetti, S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The SHOX gene: a new indication for GH treatment</atitle><jtitle>Journal of endocrinological investigation</jtitle><addtitle>J Endocrinol Invest</addtitle><date>2010-06</date><risdate>2010</risdate><volume>33</volume><issue>6 Suppl</issue><spage>15</spage><epage>18</epage><pages>15-18</pages><eissn>1720-8386</eissn><abstract>Short stature homeobox-containing (SHOX) gene mutations causing haploinsufficiency have been reported in idiopathic short stature, but the real prevalence of this defect in the population with growth failure is debated. Based on current data, the prevalence of SHOXdefect (SHOX-D) has been calculated to have occurred in at least 1 in 2,000 children. This occurrence rate is higher than that of classic GH deficiency or Turner syndrome. In all probability, the real prevalence of SHOX-D will increase in the future with the improvement of the genetic analysis with investigations for point mutations in the enhancer sequences or for deletions in other parts of this region. A selection criterion to individuate the most appropriate candidates eligible for the SHOX region analysis has been suggested based on the evaluation of a disproportional short stature. The efficacy of GH treatment in these patients has recently been demonstrated with results that are similar to those observed in Turner syndrome.</abstract><cop>Italy</cop><pmid>21057180</pmid><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | EISSN: 1720-8386 |
| ispartof | Journal of endocrinological investigation, 2010-06, Vol.33 (6 Suppl), p.15-18 |
| issn | 1720-8386 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1027373790 |
| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Deficiency Diseases - drug therapy Deficiency Diseases - genetics Enhancer Elements, Genetic - genetics Female Gene Deletion Genetic Testing Growth Hormone - therapeutic use Haploinsufficiency - genetics Homeodomain Proteins - genetics Humans Male Mutation - genetics Short Stature Homeobox Protein |
| title | The SHOX gene: a new indication for GH treatment |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-09T11%3A41%3A29IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=The%20SHOX%20gene:%20a%20new%20indication%20for%20GH%20treatment&rft.jtitle=Journal%20of%20endocrinological%20investigation&rft.au=Cicognani,%20A&rft.date=2010-06&rft.volume=33&rft.issue=6%20Suppl&rft.spage=15&rft.epage=18&rft.pages=15-18&rft.eissn=1720-8386&rft_id=info:doi/&rft_dat=%3Cproquest_pubme%3E1027373790%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1027373790&rft_id=info:pmid/21057180&rfr_iscdi=true |