Concomitant occurrence of Turner syndrome and growth hormone deficiency
Identifieur interne : 002336 ( Pmc/Curation ); précédent : 002335; suivant : 002337Concomitant occurrence of Turner syndrome and growth hormone deficiency
Auteurs : Jung Yu [Corée du Sud] ; Ha Young Shin [Corée du Sud] ; Chong Guk Lee [Corée du Sud] ; Jae Hyun Kim [Corée du Sud]Source :
- Korean Journal of Pediatrics [ 1738-1061 ] ; 2016.
Abstract
Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis.
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DOI: 10.3345/kjp.2016.59.11.S121
PubMed: 28018463
PubMed Central: 5177693
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Concomitant occurrence of Turner syndrome and growth hormone deficiency</title><author><name sortKey="Yu, Jung" sort="Yu, Jung" uniqKey="Yu J" first="Jung" last="Yu">Jung Yu</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang</wicri:regionArea></affiliation></author><author><name sortKey="Shin, Ha Young" sort="Shin, Ha Young" uniqKey="Shin H" first="Ha Young" last="Shin">Ha Young Shin</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang</wicri:regionArea></affiliation></author><author><name sortKey="Lee, Chong Guk" sort="Lee, Chong Guk" uniqKey="Lee C" first="Chong Guk" last="Lee">Chong Guk Lee</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang</wicri:regionArea></affiliation></author><author><name sortKey="Kim, Jae Hyun" sort="Kim, Jae Hyun" uniqKey="Kim J" first="Jae Hyun" last="Kim">Jae Hyun Kim</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno 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wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang</wicri:regionArea></affiliation></author><author><name sortKey="Shin, Ha Young" sort="Shin, Ha Young" uniqKey="Shin H" first="Ha Young" last="Shin">Ha Young Shin</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang</wicri:regionArea></affiliation></author><author><name sortKey="Lee, Chong Guk" sort="Lee, Chong Guk" uniqKey="Lee C" first="Chong Guk" last="Lee">Chong Guk Lee</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang</wicri:regionArea></affiliation></author><author><name sortKey="Kim, Jae Hyun" sort="Kim, Jae Hyun" uniqKey="Kim J" first="Jae Hyun" last="Kim">Jae Hyun Kim</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang</wicri:regionArea></affiliation></author></analytic><series><title level="j">Korean Journal of Pediatrics</title><idno type="ISSN">1738-1061</idno><idno type="eISSN">2092-7258</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Sybert, Vp" uniqKey="Sybert V">VP Sybert</name></author><author><name sortKey="Mccauley, E" uniqKey="Mccauley E">E McCauley</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gravholt, Ch" uniqKey="Gravholt C">CH Gravholt</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bondy, Ca" uniqKey="Bondy C">CA Bondy</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Yeo, Cy" uniqKey="Yeo C">CY Yeo</name></author><author><name sortKey="Kim, Cj" uniqKey="Kim C">CJ Kim</name></author><author><name sortKey="Woo, Yj" uniqKey="Woo Y">YJ Woo</name></author><author><name sortKey="Lee, Dy" uniqKey="Lee D">DY Lee</name></author><author><name sortKey="Kim, Ms" uniqKey="Kim M">MS Kim</name></author><author><name sortKey="Kim, Ey" uniqKey="Kim E">EY Kim</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Seo, Hj" uniqKey="Seo H">HJ Seo</name></author><author><name sortKey="Lee, Jh" uniqKey="Lee J">JH Lee</name></author><author><name sortKey="Lee, Hk" uniqKey="Lee H">HK Lee</name></author><author><name sortKey="Jung, Sh" uniqKey="Jung S">SH Jung</name></author><author><name sortKey="Lee, Ks" uniqKey="Lee K">KS Lee</name></author></analytic></biblStruct><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Stanley, T" uniqKey="Stanley T">T Stanley</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Jin, W" uniqKey="Jin W">W Jin</name></author><author><name sortKey="Cheng, Fx" uniqKey="Cheng F">FX Cheng</name></author><author><name sortKey="Xiao, Ms" uniqKey="Xiao M">MS Xiao</name></author><author><name sortKey="Fan, Y" uniqKey="Fan Y">Y Fan</name></author><author><name sortKey="Dong, W" uniqKey="Dong W">W Dong</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gallicchio, Ct" uniqKey="Gallicchio C">CT Gallicchio</name></author><author><name sortKey="Alves, St" uniqKey="Alves S">ST Alves</name></author><author><name sortKey="Ramos, Hi" uniqKey="Ramos H">HI Ramos</name></author><author><name sortKey="Llerena, Jc" uniqKey="Llerena J">JC Llerena</name></author><author><name sortKey="Guimaraes, Mm" uniqKey="Guimaraes M">MM Guimaraes</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Efstathiadou, Z" uniqKey="Efstathiadou Z">Z Efstathiadou</name></author><author><name sortKey="Tsatsoulis, A" uniqKey="Tsatsoulis A">A Tsatsoulis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Duke, Em" uniqKey="Duke E">EM Duke</name></author><author><name sortKey="Hussein, Dm" uniqKey="Hussein D">DM Hussein</name></author><author><name sortKey="Hamilton, W" uniqKey="Hamilton W">W Hamilton</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Pasquino, Am" uniqKey="Pasquino A">AM Pasquino</name></author><author><name sortKey="Passeri, F" uniqKey="Passeri F">F Passeri</name></author><author><name sortKey="Pucarelli, I" uniqKey="Pucarelli I">I Pucarelli</name></author><author><name sortKey="Segni, M" uniqKey="Segni M">M Segni</name></author><author><name sortKey="Municchi, G" uniqKey="Municchi G">G Municchi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wit, Jm" uniqKey="Wit J">JM Wit</name></author><author><name sortKey="Massarano, Aa" uniqKey="Massarano A">AA Massarano</name></author><author><name sortKey="Kamp, Ga" uniqKey="Kamp G">GA Kamp</name></author><author><name sortKey="Hindmarsh, Pc" uniqKey="Hindmarsh P">PC Hindmarsh</name></author><author><name sortKey="Van Es, A" uniqKey="Van Es A">A van Es</name></author><author><name sortKey="Brook, Cg" uniqKey="Brook C">CG Brook</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Brook, Cg" uniqKey="Brook C">CG Brook</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ranke, Mb" uniqKey="Ranke M">MB Ranke</name></author><author><name sortKey="Lindberg, A" uniqKey="Lindberg A">A Lindberg</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="case-report"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Korean J Pediatr</journal-id><journal-id journal-id-type="iso-abbrev">Korean J Pediatr</journal-id><journal-id journal-id-type="publisher-id">KJP</journal-id><journal-title-group><journal-title>Korean Journal of Pediatrics</journal-title></journal-title-group><issn pub-type="ppub">1738-1061</issn><issn pub-type="epub">2092-7258</issn><publisher><publisher-name>The Korean Pediatric Society</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">28018463</article-id><article-id pub-id-type="pmc">5177693</article-id><article-id pub-id-type="doi">10.3345/kjp.2016.59.11.S121</article-id><article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject></subj-group></article-categories><title-group><article-title>Concomitant occurrence of Turner syndrome and growth hormone deficiency</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Yu</surname><given-names>Jung</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A1"></xref></contrib><contrib contrib-type="author"><name><surname>Shin</surname><given-names>Ha Young</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A1"></xref></contrib><contrib contrib-type="author"><name><surname>Lee</surname><given-names>Chong Guk</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A1"></xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Kim</surname><given-names>Jae Hyun</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A1"></xref></contrib></contrib-group><aff id="A1">Department of Pediatrics, Inje University Ilsan Paik Hospital, Goyang, Korea.</aff><author-notes><corresp>Corresponding author: Jae Hyun Kim, MD. Department of Pediatrics, Inje University Ilsan Paik Hospital, Inje University College of Medicine, 170 Juhwa-ro, Ilsanseo-gu, Goyang 10380, Korea. Tel: +82-31-910-7942, Fax: +82-31-910-7108, <email>pedendo@paik.ac.kr</email></corresp></author-notes><pub-date pub-type="ppub"><month>11</month><year>2016</year></pub-date><pub-date pub-type="epub"><day>30</day><month>11</month><year>2016</year></pub-date><volume>59</volume><issue>Suppl 1</issue><fpage>S121</fpage><lpage>S124</lpage><history><date date-type="received"><day>13</day><month>9</month><year>2014</year></date><date date-type="rev-recd"><day>30</day><month>10</month><year>2014</year></date><date date-type="accepted"><day>31</day><month>10</month><year>2014</year></date></history><permissions><copyright-statement>Copyright © 2016 by The Korean Pediatric Society</copyright-statement><copyright-year>2016</copyright-year><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc/4.0/"><license-p>This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc/4.0/">http://creativecommons.org/licenses/by-nc/4.0/</ext-link>) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><abstract><p>Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis.</p></abstract><kwd-group><kwd>Turner syndrome</kwd><kwd>Growth hormone deficiency</kwd><kwd>Short stature</kwd></kwd-group></article-meta></front><floats-group><fig id="F1" orientation="portrait" position="float"><label>Fig. 1</label><caption><title>(A) Partially empty sella (arrow) on the brain magnetic resonance image of case 1. (B) Normal brain magnetic resonance image of case 2.</title></caption><graphic xlink:href="kjped-59-S121-g001"></graphic></fig><table-wrap id="T1" orientation="portrait" position="float"><label>Table 1</label><caption><title>Summary of cases of concurrent Turner syndrome (TS) and growth hormone deficiency (GHD)</title></caption><alternatives><graphic xlink:href="kjped-59-S121-i001"></graphic><table frame="hsides" rules="rows"><col width="17%" span="1"></col><col width="7%" span="1"></col><col width="7%" span="1"></col><col width="10%" span="1"></col><col width="10%" span="1"></col><col width="10%" span="1"></col><col width="13%" span="1"></col><col width="13%" span="1"></col><col width="13%" span="1"></col><thead><tr><th valign="middle" align="left" rowspan="2" colspan="1">Study</th><th valign="middle" align="center" rowspan="1" colspan="2">Age at diagnosis (yr)</th><th valign="middle" align="center" rowspan="1" colspan="2">Height (SDS) at diagnosis (cm)</th><th valign="middle" align="center" rowspan="2" colspan="1">Karyotype</th><th valign="middle" align="center" rowspan="2" colspan="1">Peak GH during GH stimulation test</th><th valign="middle" align="center" rowspan="2" colspan="1">Other pituitary hormone deficiencies</th><th valign="middle" align="center" rowspan="2" colspan="1">Associated disorders</th></tr><tr><th valign="middle" align="center" rowspan="1" colspan="1">TS</th><th valign="middle" align="center" rowspan="1" colspan="1">GHD</th><th valign="middle" align="center" rowspan="1" colspan="1">TS</th><th valign="middle" align="center" rowspan="1" colspan="1">GHD</th></tr></thead><tbody><tr><td valign="top" align="left" rowspan="1" colspan="1">Present study (case 1)</td><td valign="top" align="center" rowspan="1" colspan="1">8.9</td><td valign="top" align="center" rowspan="1" colspan="1">7.5</td><td valign="top" align="center" rowspan="1" colspan="1">119.7 (–1.89)</td><td valign="top" align="center" rowspan="1" colspan="1">111.4 (–2.30)</td><td valign="top" align="left" rowspan="1" colspan="1">45,X/45X,+mar</td><td valign="top" align="right" rowspan="1" colspan="1">6.17 ng/mL</td><td valign="top" align="center" rowspan="1" colspan="1">-</td><td valign="top" align="left" rowspan="1" colspan="1">Partial empty sella, horseshoe kidney</td></tr><tr><td valign="top" align="left" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">Present study (case 2)</td><td valign="top" align="center" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">12.3</td><td valign="top" align="center" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">12.3</td><td valign="top" align="center" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">140.1 (–1.72)<sup>*</sup></td><td valign="top" align="center" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">140.1 (–1.72)<sup>*</sup></td><td valign="top" align="left" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">45,X/46,XX</td><td valign="top" align="right" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">7.38 ng/mL</td><td valign="top" align="center" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">-</td><td valign="top" align="center" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">-</td></tr><tr><td valign="top" align="left" rowspan="1" colspan="1">Brook<xref rid="B14" ref-type="bibr">14)</xref></td><td valign="top" align="center" rowspan="1" colspan="1">9.1</td><td valign="top" align="center" rowspan="1" colspan="1">9.6</td><td valign="top" align="center" rowspan="1" colspan="1">109.2 (–3.6)</td><td valign="top" align="center" rowspan="1" colspan="1">-</td><td valign="top" align="left" rowspan="1" colspan="1">45,X</td><td valign="top" align="right" rowspan="1" colspan="1">6.1 mIU/L</td><td valign="top" align="center" rowspan="1" colspan="1">-</td><td valign="top" align="center" rowspan="1" colspan="1">-</td></tr><tr><td valign="top" align="left" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">Jin et al.<xref rid="B8" ref-type="bibr">8)</xref></td><td valign="top" align="center" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">11</td><td valign="top" align="center" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">11</td><td valign="top" align="center" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">118 (SDS NA)</td><td valign="top" align="center" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">118 (SDS NA)</td><td valign="top" align="left" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">45,X</td><td valign="top" align="right" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)"><5 ng/mL</td><td valign="top" align="center" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">-</td><td valign="top" align="left" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">Chronic lymphocytic thyroiditis</td></tr><tr><td valign="top" align="left" rowspan="1" colspan="1">Gallicchio et al.<xref rid="B9" ref-type="bibr">9)</xref></td><td valign="top" align="center" rowspan="1" colspan="1">11</td><td valign="top" align="center" rowspan="1" colspan="1">12</td><td valign="top" align="center" rowspan="1" colspan="1">116.4 (–4.2)</td><td valign="top" align="center" rowspan="1" colspan="1">119.2 (–4.9)</td><td valign="top" align="left" rowspan="1" colspan="1">45,X/46,XX</td><td valign="top" align="right" rowspan="1" colspan="1">0.14 ng/mL</td><td valign="top" align="left" rowspan="1" colspan="1">TSH, gonadotropin</td><td valign="top" align="left" rowspan="1" colspan="1">Empty sella</td></tr><tr><td valign="top" align="left" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">Efstathiadou et al.<xref rid="B10" ref-type="bibr">10)</xref></td><td valign="top" align="center" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">30</td><td valign="top" align="center" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">17</td><td valign="top" align="center" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">148 (–2.35)</td><td valign="top" align="center" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">126 (–6.0)</td><td valign="top" align="left" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">45,X</td><td valign="top" align="right" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">4.65 ng/mL</td><td valign="top" align="left" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">TSH, gonadotropin</td><td valign="top" align="center" rowspan="1" colspan="1" style="background-color:rgb(241,242,242)">-</td></tr></tbody></table></alternatives><table-wrap-foot><fn><p>SDS, standard deviation score; GH, growth hormone; TSH, thyroid stimulating hormone; NA, not available.</p><p><sup>*</sup>Height after 2 years of growth hormone therapy.</p></fn></table-wrap-foot></table-wrap></floats-group></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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