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Measured parental height in Turner syndrome—a valuable but underused diagnostic tool
Early diagnosis of Turner syndrome (TS) is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height (Ht) is needed for appropriate evaluation. We examined both the prevalence and diagnostic sensiti...
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| Published in: | European journal of pediatrics 2018-02, Vol.177 (2), p.171-179 |
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| creator | Ouarezki, Yasmine Cizmecioglu, Filiz Mine Mansour, Chourouk Jones, Jeremy Huw Gault, Emma Jane Mason, Avril Donaldson, Malcolm D. C. |
| description | Early diagnosis of Turner syndrome (TS) is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height (Ht) is needed for appropriate evaluation. We examined both the prevalence and diagnostic sensitivity of measured parental Ht in a dedicated TS clinic between 1989 and 2013. Lower end of parental target range (LTR) was calculated as mid-parental Ht (correction factor 12.5 cm minus 8.5 cm) and converted to standard deviation scores (SDS) using UK 1990 data, then compared with patient Ht SDS at first accurate measurement aged > 1 year. Information was available in 172 girls of whom 142 (82.6%) were short at first measurement. However, both parents had been measured in only 94 girls (54.6%). In 92 of these girls age at measurement was 6.93 ± 3.9 years, Ht SDS vs LTR SDS − 2.63 ± 0.94 vs − 1.77 ± 0.81 (
p
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| doi_str_mv | 10.1007/s00431-017-3045-2 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5758685</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1978149801</sourcerecordid><originalsourceid>FETCH-LOGICAL-c470t-4d4b467062eea11049a014cf68fddfab7df8d2b6e0abe58d96f0f3fee63033d13</originalsourceid><addsrcrecordid>eNp1kU1uFDEQhS0EIkPgAGyQJTZsmpTbbru9QUIRf1KibAJby90uz3TUYw92O1J2HIITchI8TIgCUlZe1Pee69Uj5CWDtwxAnWQAwVkDTDUcRNe0j8iKCd42DJR8TFbABTSSaX1EnuV8BVWjWf-UHLW67Tot9Ip8O0ebS0JHdzZhWOxMNzitNwudAr0sKWCi-Sa4FLf468dPS6_tXOwwIx3KQktwmEquajfZdYh5mUa6xDg_J0-8nTO-uH2PydePHy5PPzdnF5--nL4_a0ahYGmEE4OQCmSLaBkDoS0wMXrZe-e8HZTzvWsHiWAH7HqnpQfPPaLkwLlj_Ji8O_juyrBFN9YEyc5ml6atTTcm2sn8OwnTxqzjtelU18u-qwZvbg1S_F4wL2Y75RHn2QaMJRumVa84552s6Ov_0KtYD1Tj_aGY0D3sN2IHakwx54T-bhkGZt-aObRmamtm35ppq-bV_RR3ir81VaA9ALmOwhrTva8fdP0Nr7mliw</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1978149801</pqid></control><display><type>article</type><title>Measured parental height in Turner syndrome—a valuable but underused diagnostic tool</title><source>Springer Nature</source><creator>Ouarezki, Yasmine ; Cizmecioglu, Filiz Mine ; Mansour, Chourouk ; Jones, Jeremy Huw ; Gault, Emma Jane ; Mason, Avril ; Donaldson, Malcolm D. C.</creator><creatorcontrib>Ouarezki, Yasmine ; Cizmecioglu, Filiz Mine ; Mansour, Chourouk ; Jones, Jeremy Huw ; Gault, Emma Jane ; Mason, Avril ; Donaldson, Malcolm D. C.</creatorcontrib><description>Early diagnosis of Turner syndrome (TS) is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height (Ht) is needed for appropriate evaluation. We examined both the prevalence and diagnostic sensitivity of measured parental Ht in a dedicated TS clinic between 1989 and 2013. Lower end of parental target range (LTR) was calculated as mid-parental Ht (correction factor 12.5 cm minus 8.5 cm) and converted to standard deviation scores (SDS) using UK 1990 data, then compared with patient Ht SDS at first accurate measurement aged > 1 year. Information was available in 172 girls of whom 142 (82.6%) were short at first measurement. However, both parents had been measured in only 94 girls (54.6%). In 92 of these girls age at measurement was 6.93 ± 3.9 years, Ht SDS vs LTR SDS − 2.63 ± 0.94 vs − 1.77 ± 0.81 (
p
< 0.001), Ht SDS < LTR in 78/92 (85%). Eleven of the remaining 14 girls were < 5 years, while karyotype was 45,X/46,XX in 2 and 45,X/47,XXX in 3.
Conclusion
: This study confirms the sensitivity of evaluating height status against parental height but shows that the latter is not being consistently measured.
What is Known:
•
Girls with Turner syndrome are short in relation to parental heights, with untreated final height approximately 20 cm below female population mean
.
•
Measured parental height is more accurate than reported height
.
What is New:
•
In a dedicated Turner clinic, there was 85% sensitivity when comparing patient height standard deviation score at first accurate measurement beyond 1 year of age with the lower end of the parental target range standard deviation
.
•
However, measured height in both parents had been recorded in only 54.6% of the Turner girls attending the clinic. This indicates the need to improve the quality of growth assessment in tertiary care.</description><identifier>ISSN: 0340-6199</identifier><identifier>EISSN: 1432-1076</identifier><identifier>DOI: 10.1007/s00431-017-3045-2</identifier><identifier>PMID: 29255949</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Adolescent ; Birth Weight ; Body Height ; Child ; Child, Preschool ; Female ; Genetic disorders ; Humans ; Infant ; Infant, Newborn ; Karyotype ; Karyotyping ; Medical diagnosis ; Medicine ; Medicine & Public Health ; Original ; Original Article ; Parents ; Pediatrics ; Prevalence ; Retrospective Studies ; Sensitivity and Specificity ; Standard deviation ; Turner Syndrome - diagnosis ; Turner Syndrome - epidemiology ; Turner Syndrome - genetics ; Turner's syndrome</subject><ispartof>European journal of pediatrics, 2018-02, Vol.177 (2), p.171-179</ispartof><rights>The Author(s) 2017</rights><rights>European Journal of Pediatrics is a copyright of Springer, (2017). All Rights Reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c470t-4d4b467062eea11049a014cf68fddfab7df8d2b6e0abe58d96f0f3fee63033d13</citedby><cites>FETCH-LOGICAL-c470t-4d4b467062eea11049a014cf68fddfab7df8d2b6e0abe58d96f0f3fee63033d13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,777,781,882,27905,27906</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29255949$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ouarezki, Yasmine</creatorcontrib><creatorcontrib>Cizmecioglu, Filiz Mine</creatorcontrib><creatorcontrib>Mansour, Chourouk</creatorcontrib><creatorcontrib>Jones, Jeremy Huw</creatorcontrib><creatorcontrib>Gault, Emma Jane</creatorcontrib><creatorcontrib>Mason, Avril</creatorcontrib><creatorcontrib>Donaldson, Malcolm D. C.</creatorcontrib><title>Measured parental height in Turner syndrome—a valuable but underused diagnostic tool</title><title>European journal of pediatrics</title><addtitle>Eur J Pediatr</addtitle><addtitle>Eur J Pediatr</addtitle><description>Early diagnosis of Turner syndrome (TS) is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height (Ht) is needed for appropriate evaluation. We examined both the prevalence and diagnostic sensitivity of measured parental Ht in a dedicated TS clinic between 1989 and 2013. Lower end of parental target range (LTR) was calculated as mid-parental Ht (correction factor 12.5 cm minus 8.5 cm) and converted to standard deviation scores (SDS) using UK 1990 data, then compared with patient Ht SDS at first accurate measurement aged > 1 year. Information was available in 172 girls of whom 142 (82.6%) were short at first measurement. However, both parents had been measured in only 94 girls (54.6%). In 92 of these girls age at measurement was 6.93 ± 3.9 years, Ht SDS vs LTR SDS − 2.63 ± 0.94 vs − 1.77 ± 0.81 (
p
< 0.001), Ht SDS < LTR in 78/92 (85%). Eleven of the remaining 14 girls were < 5 years, while karyotype was 45,X/46,XX in 2 and 45,X/47,XXX in 3.
Conclusion
: This study confirms the sensitivity of evaluating height status against parental height but shows that the latter is not being consistently measured.
What is Known:
•
Girls with Turner syndrome are short in relation to parental heights, with untreated final height approximately 20 cm below female population mean
.
•
Measured parental height is more accurate than reported height
.
What is New:
•
In a dedicated Turner clinic, there was 85% sensitivity when comparing patient height standard deviation score at first accurate measurement beyond 1 year of age with the lower end of the parental target range standard deviation
.
•
However, measured height in both parents had been recorded in only 54.6% of the Turner girls attending the clinic. This indicates the need to improve the quality of growth assessment in tertiary care.</description><subject>Adolescent</subject><subject>Birth Weight</subject><subject>Body Height</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Female</subject><subject>Genetic disorders</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Karyotype</subject><subject>Karyotyping</subject><subject>Medical diagnosis</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Original</subject><subject>Original Article</subject><subject>Parents</subject><subject>Pediatrics</subject><subject>Prevalence</subject><subject>Retrospective Studies</subject><subject>Sensitivity and Specificity</subject><subject>Standard deviation</subject><subject>Turner Syndrome - diagnosis</subject><subject>Turner Syndrome - epidemiology</subject><subject>Turner Syndrome - genetics</subject><subject>Turner's syndrome</subject><issn>0340-6199</issn><issn>1432-1076</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><recordid>eNp1kU1uFDEQhS0EIkPgAGyQJTZsmpTbbru9QUIRf1KibAJby90uz3TUYw92O1J2HIITchI8TIgCUlZe1Pee69Uj5CWDtwxAnWQAwVkDTDUcRNe0j8iKCd42DJR8TFbABTSSaX1EnuV8BVWjWf-UHLW67Tot9Ip8O0ebS0JHdzZhWOxMNzitNwudAr0sKWCi-Sa4FLf468dPS6_tXOwwIx3KQktwmEquajfZdYh5mUa6xDg_J0-8nTO-uH2PydePHy5PPzdnF5--nL4_a0ahYGmEE4OQCmSLaBkDoS0wMXrZe-e8HZTzvWsHiWAH7HqnpQfPPaLkwLlj_Ji8O_juyrBFN9YEyc5ml6atTTcm2sn8OwnTxqzjtelU18u-qwZvbg1S_F4wL2Y75RHn2QaMJRumVa84552s6Ov_0KtYD1Tj_aGY0D3sN2IHakwx54T-bhkGZt-aObRmamtm35ppq-bV_RR3ir81VaA9ALmOwhrTva8fdP0Nr7mliw</recordid><startdate>20180201</startdate><enddate>20180201</enddate><creator>Ouarezki, Yasmine</creator><creator>Cizmecioglu, Filiz Mine</creator><creator>Mansour, Chourouk</creator><creator>Jones, Jeremy Huw</creator><creator>Gault, Emma Jane</creator><creator>Mason, Avril</creator><creator>Donaldson, Malcolm D. C.</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature B.V</general><scope>C6C</scope><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>3V.</scope><scope>7RV</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8C1</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9-</scope><scope>K9.</scope><scope>KB0</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20180201</creationdate><title>Measured parental height in Turner syndrome—a valuable but underused diagnostic tool</title><author>Ouarezki, Yasmine ; Cizmecioglu, Filiz Mine ; Mansour, Chourouk ; Jones, Jeremy Huw ; Gault, Emma Jane ; Mason, Avril ; Donaldson, Malcolm D. C.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c470t-4d4b467062eea11049a014cf68fddfab7df8d2b6e0abe58d96f0f3fee63033d13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Adolescent</topic><topic>Birth Weight</topic><topic>Body Height</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Female</topic><topic>Genetic disorders</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Karyotype</topic><topic>Karyotyping</topic><topic>Medical diagnosis</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Original</topic><topic>Original Article</topic><topic>Parents</topic><topic>Pediatrics</topic><topic>Prevalence</topic><topic>Retrospective Studies</topic><topic>Sensitivity and Specificity</topic><topic>Standard deviation</topic><topic>Turner Syndrome - diagnosis</topic><topic>Turner Syndrome - epidemiology</topic><topic>Turner Syndrome - genetics</topic><topic>Turner's syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ouarezki, Yasmine</creatorcontrib><creatorcontrib>Cizmecioglu, Filiz Mine</creatorcontrib><creatorcontrib>Mansour, Chourouk</creatorcontrib><creatorcontrib>Jones, Jeremy Huw</creatorcontrib><creatorcontrib>Gault, Emma Jane</creatorcontrib><creatorcontrib>Mason, Avril</creatorcontrib><creatorcontrib>Donaldson, Malcolm D. C.</creatorcontrib><collection>Springer Nature OA Free Journals</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>ProQuest Nursing and Allied Health Source</collection><collection>Neurosciences Abstracts</collection><collection>ProQuest_Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Public Health Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>ProQuest Family Health</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>European journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ouarezki, Yasmine</au><au>Cizmecioglu, Filiz Mine</au><au>Mansour, Chourouk</au><au>Jones, Jeremy Huw</au><au>Gault, Emma Jane</au><au>Mason, Avril</au><au>Donaldson, Malcolm D. C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Measured parental height in Turner syndrome—a valuable but underused diagnostic tool</atitle><jtitle>European journal of pediatrics</jtitle><stitle>Eur J Pediatr</stitle><addtitle>Eur J Pediatr</addtitle><date>2018-02-01</date><risdate>2018</risdate><volume>177</volume><issue>2</issue><spage>171</spage><epage>179</epage><pages>171-179</pages><issn>0340-6199</issn><eissn>1432-1076</eissn><abstract>Early diagnosis of Turner syndrome (TS) is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height (Ht) is needed for appropriate evaluation. We examined both the prevalence and diagnostic sensitivity of measured parental Ht in a dedicated TS clinic between 1989 and 2013. Lower end of parental target range (LTR) was calculated as mid-parental Ht (correction factor 12.5 cm minus 8.5 cm) and converted to standard deviation scores (SDS) using UK 1990 data, then compared with patient Ht SDS at first accurate measurement aged > 1 year. Information was available in 172 girls of whom 142 (82.6%) were short at first measurement. However, both parents had been measured in only 94 girls (54.6%). In 92 of these girls age at measurement was 6.93 ± 3.9 years, Ht SDS vs LTR SDS − 2.63 ± 0.94 vs − 1.77 ± 0.81 (
p
< 0.001), Ht SDS < LTR in 78/92 (85%). Eleven of the remaining 14 girls were < 5 years, while karyotype was 45,X/46,XX in 2 and 45,X/47,XXX in 3.
Conclusion
: This study confirms the sensitivity of evaluating height status against parental height but shows that the latter is not being consistently measured.
What is Known:
•
Girls with Turner syndrome are short in relation to parental heights, with untreated final height approximately 20 cm below female population mean
.
•
Measured parental height is more accurate than reported height
.
What is New:
•
In a dedicated Turner clinic, there was 85% sensitivity when comparing patient height standard deviation score at first accurate measurement beyond 1 year of age with the lower end of the parental target range standard deviation
.
•
However, measured height in both parents had been recorded in only 54.6% of the Turner girls attending the clinic. This indicates the need to improve the quality of growth assessment in tertiary care.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>29255949</pmid><doi>10.1007/s00431-017-3045-2</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
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| source | Springer Nature |
| subjects | Adolescent Birth Weight Body Height Child Child, Preschool Female Genetic disorders Humans Infant Infant, Newborn Karyotype Karyotyping Medical diagnosis Medicine Medicine & Public Health Original Original Article Parents Pediatrics Prevalence Retrospective Studies Sensitivity and Specificity Standard deviation Turner Syndrome - diagnosis Turner Syndrome - epidemiology Turner Syndrome - genetics Turner's syndrome |
| title | Measured parental height in Turner syndrome—a valuable but underused diagnostic tool |
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