Serveur d'exploration sur le patient édenté

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48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis

Identifieur interne : 001B66 ( Pmc/Curation ); précédent : 001B65; suivant : 001B67

48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis

Auteurs : Baha Zantour [Tunisie] ; Mohamed Habib Sfar [Tunisie] ; Samia Younes [Tunisie] ; Wafa Alaya [Tunisie] ; Mahdi Kamoun [Tunisie] ; Emna Mkaouar [Tunisie] ; Saida Jerbi [Tunisie]

Source :

RBID : PMC:2934777

Abstract

A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochondrial cytopathy and leucodystrophy. Karyotype study showed a 48XXYY chromosomal type. Renal aplasia and pigmentary retinitis have not been described in 48XXYY patients. They may be related to the chromosomal sex aneuploidy, or caused by other genetic aberrations in light of the high consanguinity rate in the patient's family.


Url:
DOI: 10.1155/2010/612315
PubMed: 20827436
PubMed Central: 2934777

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PMC:2934777

Le document en format XML

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<div1 type="bibliography">
<listBibl>
<biblStruct>
<analytic>
<author>
<name sortKey="S Rensen, K" uniqKey="S Rensen K">K Sørensen</name>
</author>
<author>
<name sortKey="Nielsen, J" uniqKey="Nielsen J">J Nielsen</name>
</author>
<author>
<name sortKey="Jacobsen, P" uniqKey="Jacobsen P">P Jacobsen</name>
</author>
<author>
<name sortKey="R Lle, T" uniqKey="R Lle T">T Rølle</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Muldal, S" uniqKey="Muldal S">S Muldal</name>
</author>
<author>
<name sortKey="Ockey, Ch" uniqKey="Ockey C">CH Ockey</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Parker, Ce" uniqKey="Parker C">CE Parker</name>
</author>
<author>
<name sortKey="Mavalwala, J" uniqKey="Mavalwala J">J Mavalwala</name>
</author>
<author>
<name sortKey="Melnyk, J" uniqKey="Melnyk J">J Melnyk</name>
</author>
<author>
<name sortKey="Fish, Ch" uniqKey="Fish C">CH Fish</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Tartaglia, N" uniqKey="Tartaglia N">N Tartaglia</name>
</author>
<author>
<name sortKey="Davis, S" uniqKey="Davis S">S Davis</name>
</author>
<author>
<name sortKey="Hench, A" uniqKey="Hench A">A Hench</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Borghgraef, M" uniqKey="Borghgraef M">M Borghgraef</name>
</author>
<author>
<name sortKey="Fryns, Jp" uniqKey="Fryns J">JP Fryns</name>
</author>
<author>
<name sortKey="Van Den Berghe, H" uniqKey="Van Den Berghe H">H Van den Berghe</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Tartaglia, N" uniqKey="Tartaglia N">N Tartaglia</name>
</author>
<author>
<name sortKey="Reynolds, A" uniqKey="Reynolds A">A Reynolds</name>
</author>
<author>
<name sortKey="Visootsak, J" uniqKey="Visootsak J">J Visootsak</name>
</author>
<author>
<name sortKey="Gronly, S" uniqKey="Gronly S">S Gronly</name>
</author>
<author>
<name sortKey="Hansen, R" uniqKey="Hansen R">R Hansen</name>
</author>
<author>
<name sortKey="Hagerman, R" uniqKey="Hagerman R">R Hagerman</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Iitsuka, Y" uniqKey="Iitsuka Y">Y Iitsuka</name>
</author>
<author>
<name sortKey="Bock, A" uniqKey="Bock A">A Bock</name>
</author>
<author>
<name sortKey="Nguyen, Dd" uniqKey="Nguyen D">DD Nguyen</name>
</author>
<author>
<name sortKey="Samango Sprouse, Ca" uniqKey="Samango Sprouse C">CA Samango-Sprouse</name>
</author>
<author>
<name sortKey="Simpson, Jl" uniqKey="Simpson J">JL Simpson</name>
</author>
<author>
<name sortKey="Bischoff, Fz" uniqKey="Bischoff F">FZ Bischoff</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Visootsak, J" uniqKey="Visootsak J">J Visootsak</name>
</author>
<author>
<name sortKey="Graham Jr, Jm" uniqKey="Graham Jr J">JM Graham Jr.</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Visootsak, J" uniqKey="Visootsak J">J Visootsak</name>
</author>
<author>
<name sortKey="Rosner, B" uniqKey="Rosner B">B Rosner</name>
</author>
<author>
<name sortKey="Dykens, E" uniqKey="Dykens E">E Dykens</name>
</author>
<author>
<name sortKey="Tartaglia, N" uniqKey="Tartaglia N">N Tartaglia</name>
</author>
<author>
<name sortKey="Graham Jr, Jm" uniqKey="Graham Jr J">JM Graham Jr.</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Zelante, L" uniqKey="Zelante L">L Zelante</name>
</author>
<author>
<name sortKey="Piemontese, Mr" uniqKey="Piemontese M">MR Piemontese</name>
</author>
<author>
<name sortKey="Francioli, G" uniqKey="Francioli G">G Francioli</name>
</author>
<author>
<name sortKey="Calvano, S" uniqKey="Calvano S">S Calvano</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Dubois, S" uniqKey="Dubois S">S Dubois</name>
</author>
<author>
<name sortKey="Illouz, F" uniqKey="Illouz F">F Illouz</name>
</author>
<author>
<name sortKey="Pinson, L" uniqKey="Pinson L">L Pinson</name>
</author>
<author>
<name sortKey="Bonneau, D" uniqKey="Bonneau D">D Bonneau</name>
</author>
<author>
<name sortKey="Rohmer, V" uniqKey="Rohmer V">V Rohmer</name>
</author>
<author>
<name sortKey="Guichet, A" uniqKey="Guichet A">A Guichet</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Wikstrom, Am" uniqKey="Wikstrom A">AM Wikström</name>
</author>
<author>
<name sortKey="Dunkel, L" uniqKey="Dunkel L">L Dunkel</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Laaksonen, De" uniqKey="Laaksonen D">DE Laaksonen</name>
</author>
<author>
<name sortKey="Niskanen, L" uniqKey="Niskanen L">L Niskanen</name>
</author>
<author>
<name sortKey="Punnonen, K" uniqKey="Punnonen K">K Punnonen</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Simon, D" uniqKey="Simon D">D Simon</name>
</author>
<author>
<name sortKey="Charles, M A" uniqKey="Charles M">M-A Charles</name>
</author>
<author>
<name sortKey="Nahoul, K" uniqKey="Nahoul K">K Nahoul</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Alberti, Kgmm" uniqKey="Alberti K">KGMM Alberti</name>
</author>
<author>
<name sortKey="Eckel, Rh" uniqKey="Eckel R">RH Eckel</name>
</author>
<author>
<name sortKey="Grundy, Sm" uniqKey="Grundy S">SM Grundy</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Bertini, E" uniqKey="Bertini E">E Bertini</name>
</author>
<author>
<name sortKey="D Mico, A" uniqKey="D Mico A">A D’Amico</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Hartong, Dt" uniqKey="Hartong D">DT Hartong</name>
</author>
<author>
<name sortKey="Berson, El" uniqKey="Berson E">EL Berson</name>
</author>
<author>
<name sortKey="Dryja, Tp" uniqKey="Dryja T">TP Dryja</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Okuyama, S" uniqKey="Okuyama S">S Okuyama</name>
</author>
<author>
<name sortKey="Wakui, H" uniqKey="Wakui H">H Wakui</name>
</author>
<author>
<name sortKey="Kaneko, J" uniqKey="Kaneko J">J Kaneko</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Bojesen, A" uniqKey="Bojesen A">A Bojesen</name>
</author>
<author>
<name sortKey="Juul, S" uniqKey="Juul S">S Juul</name>
</author>
<author>
<name sortKey="Birkeb K, Nh" uniqKey="Birkeb K N">NH Birkebæk</name>
</author>
<author>
<name sortKey="Gravholt, Ch" uniqKey="Gravholt C">CH Gravholt</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Lorda Sanchez, I" uniqKey="Lorda Sanchez I">I Lorda-Sanchez</name>
</author>
<author>
<name sortKey="Binkert, F" uniqKey="Binkert F">F Binkert</name>
</author>
<author>
<name sortKey="Hinkel, Kg" uniqKey="Hinkel K">KG Hinkel</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Thomas, Ns" uniqKey="Thomas N">NS Thomas</name>
</author>
<author>
<name sortKey="Hassold, Tj" uniqKey="Hassold T">TJ Hassold</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Tartaglia, N" uniqKey="Tartaglia N">N Tartaglia</name>
</author>
<author>
<name sortKey="Borodyanskya, M" uniqKey="Borodyanskya M">M Borodyanskya</name>
</author>
<author>
<name sortKey="Hall, Da" uniqKey="Hall D">DA Hall</name>
</author>
</analytic>
</biblStruct>
</listBibl>
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<surname>Zantour</surname>
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<sup>1</sup>
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<surname>Sfar</surname>
<given-names>Mohamed Habib</given-names>
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<sup>1</sup>
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<sup>1</sup>
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</name>
<xref ref-type="aff" rid="I1">
<sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Mkaouar</surname>
<given-names>Emna</given-names>
</name>
<xref ref-type="aff" rid="I2">
<sup>2</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Jerbi</surname>
<given-names>Saida</given-names>
</name>
<xref ref-type="aff" rid="I3">
<sup>3</sup>
</xref>
</contrib>
</contrib-group>
<aff id="I1">
<sup>1</sup>
Department of Endocrinology and Internal Medicine, Tahar Sfar Hospital, Hiboune, Mahdia 5100, Tunisia</aff>
<aff id="I2">
<sup>2</sup>
Department of Molecular Human Genetics, Faculty of Medicine, Avenue Majida BOULILA, Sfax 3029, Tunisia</aff>
<aff id="I3">
<sup>3</sup>
Department of Radiology, Tahar Sfar Hospital, Hiboune, Mahdia 5100, Tunisia</aff>
<author-notes>
<corresp id="cor1">*Baha Zantour:
<email>bahazantour@yahoo.fr</email>
</corresp>
<fn fn-type="other">
<p>Academic Editor: Reinhard Bretzel</p>
</fn>
</author-notes>
<pub-date pub-type="ppub">
<year>2010</year>
</pub-date>
<pub-date pub-type="epub">
<day>17</day>
<month>8</month>
<year>2010</year>
</pub-date>
<volume>2010</volume>
<elocation-id>612315</elocation-id>
<history>
<date date-type="received">
<day>18</day>
<month>5</month>
<year>2010</year>
</date>
<date date-type="rev-recd">
<day>11</day>
<month>7</month>
<year>2010</year>
</date>
<date date-type="accepted">
<day>29</day>
<month>7</month>
<year>2010</year>
</date>
</history>
<permissions>
<copyright-statement>Copyright © 2010 Baha Zantour et al.</copyright-statement>
<copyright-year>2010</copyright-year>
<copyright-holder>Copyright © 2010 Baha Zantour et al.</copyright-holder>
<license xlink:href="https://creativecommons.org/licenses/by/3.0/">
<license-p>This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p>
</license>
</permissions>
<abstract>
<p>A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochondrial cytopathy and leucodystrophy. Karyotype study showed a 48XXYY chromosomal type. Renal aplasia and pigmentary retinitis have not been described in 48XXYY patients. They may be related to the chromosomal sex aneuploidy, or caused by other genetic aberrations in light of the high consanguinity rate in the patient's family.</p>
</abstract>
</article-meta>
</front>
<floats-group>
<fig id="fig1" position="float">
<label>Figure 1</label>
<caption>
<p>Patient's family tree. For representativeness of this large family, safe progenies are represented by female or male symbol preceded by the number of subjects. Numbers noted close to dead subjects indicate age at death.</p>
</caption>
<graphic xlink:href="CRM2010-612315.001"></graphic>
</fig>
<fig id="fig2" position="float">
<label>Figure 2</label>
<caption>
<p>Frontal facial appearance.</p>
</caption>
<graphic xlink:href="CRM2010-612315.002"></graphic>
</fig>
<fig id="fig3" position="float">
<label>Figure 3</label>
<caption>
<p>Lateral physical appearance. Note the android obesity.</p>
</caption>
<graphic xlink:href="CRM2010-612315.003"></graphic>
</fig>
<fig id="fig4" position="float">
<label>Figure 4</label>
<caption>
<p>Cubitus varus of both elbows more marked in left.</p>
</caption>
<graphic xlink:href="CRM2010-612315.004"></graphic>
</fig>
<fig id="fig5" position="float">
<label>Figure 5</label>
<caption>
<p>Image of the fundus showing retinitis pigmentosa: pigmentary deposits with attenuation of the retinal vessels.</p>
</caption>
<graphic xlink:href="CRM2010-612315.005"></graphic>
</fig>
<fig id="fig6" position="float">
<label>Figure 6</label>
<caption>
<p>Abdominal CT: unilateral left renal aplasia.</p>
</caption>
<graphic xlink:href="CRM2010-612315.006"></graphic>
</fig>
<fig id="fig7" position="float">
<label>Figure 7</label>
<caption>
<p>Tc-99m methylene diphosphonate scintigraphy: unilateral left renal aplasia.</p>
</caption>
<graphic xlink:href="CRM2010-612315.007"></graphic>
</fig>
<table-wrap id="tab1" position="float">
<label>Table 1</label>
<caption>
<p>Biological data.</p>
</caption>
<table frame="hsides" rules="groups">
<thead>
<tr>
<th align="left" rowspan="1" colspan="1"></th>
<th align="center" rowspan="1" colspan="1">Blood</th>
<th align="center" rowspan="1" colspan="1">24-h urines</th>
<th align="center" rowspan="1" colspan="1">Normal values</th>
</tr>
</thead>
<tbody>
<tr>
<td align="left" rowspan="1" colspan="1">Glucose mmol/L</td>
<td align="center" rowspan="1" colspan="1">15</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">4.8–5.5</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Hemoglobin g/dL</td>
<td align="center" rowspan="1" colspan="1">12.1</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">12–18</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">HBA1c%</td>
<td align="center" rowspan="1" colspan="1">11</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">4–5.6</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Creatinin
<italic>μ</italic>
mol/L</td>
<td align="center" rowspan="1" colspan="1">83</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">53–120</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Cholesterol g/L</td>
<td align="center" rowspan="1" colspan="1">1.6</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">1,5–2</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">HDL cholesterol g/L</td>
<td align="center" rowspan="1" colspan="1">0.26</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">0.35–0.6</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Triglycerides g/L</td>
<td align="center" rowspan="1" colspan="1">0.9</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">0.40–1.50</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">LDL cholesterol g/L</td>
<td align="center" rowspan="1" colspan="1">1.16</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1"><1.6</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Calcium mmol/L, mmol/24 h</td>
<td align="center" rowspan="1" colspan="1">2.6</td>
<td align="center" rowspan="1" colspan="1">4.4</td>
<td align="center" rowspan="1" colspan="1">2.2–2.7, 2–7.5</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Phosphore mmol/L, mmol/24 h</td>
<td align="center" rowspan="1" colspan="1">0.94</td>
<td align="center" rowspan="1" colspan="1">22</td>
<td align="center" rowspan="1" colspan="1">0.87–1.45, 20–33</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Protides g/L, g/24 h</td>
<td align="center" rowspan="1" colspan="1">67</td>
<td align="center" rowspan="1" colspan="1">0</td>
<td align="center" rowspan="1" colspan="1">62–80, 0</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Albumin g/L</td>
<td align="center" rowspan="1" colspan="1">30.5</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">39–46</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Gamma globulin g/L</td>
<td align="center" rowspan="1" colspan="1">20,5</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">6–10</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Prothrombine ratio%</td>
<td align="center" rowspan="1" colspan="1">78</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">70–100</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">ASAT UL/L</td>
<td align="center" rowspan="1" colspan="1">216</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">0–46</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">ALAT UL/L</td>
<td align="center" rowspan="1" colspan="1">303</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">0–46</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">GGT UL/L</td>
<td align="center" rowspan="1" colspan="1">53</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">10–46</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Bilirubin
<italic>μ</italic>
mol/L</td>
<td align="center" rowspan="1" colspan="1">14</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">0–17</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Creatin phosphokinase UL/L</td>
<td align="center" rowspan="1" colspan="1">38</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">25–195</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Lactate deshydrogenase UL/L</td>
<td align="center" rowspan="1" colspan="1">236</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">200–400</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Pyruvate
<italic>μ</italic>
mol/L</td>
<td align="center" rowspan="1" colspan="1">142</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">30–80</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Lactate mmol/L</td>
<td align="center" rowspan="1" colspan="1">1.6</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">0.6–2.4</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Ferritin
<italic>μ</italic>
g/L</td>
<td align="center" rowspan="1" colspan="1">96.2</td>
<td align="center" rowspan="1" colspan="1"></td>
<td align="center" rowspan="1" colspan="1">30–350</td>
</tr>
</tbody>
</table>
<table-wrap-foot>
<fn>
<p>HBA1c: glycated hemoglobin; HDL: high density lipoprotein; LDL: low density lipoprotein; ASAT: aspartate aminotransferase; ALAT: alanine aminotransferase; and GGT: gamma glutamyl transferase.</p>
</fn>
</table-wrap-foot>
</table-wrap>
<table-wrap id="tab2" position="float">
<label>Table 2</label>
<caption>
<p>Hormonal data.</p>
</caption>
<table frame="hsides" rules="groups">
<thead>
<tr>
<th align="left" rowspan="1" colspan="1"></th>
<th align="center" rowspan="1" colspan="1">Blood</th>
<th align="center" rowspan="1" colspan="1">Normal values</th>
</tr>
</thead>
<tbody>
<tr>
<td align="left" rowspan="1" colspan="1">Testosterone
<italic>μ</italic>
g/L</td>
<td align="center" rowspan="1" colspan="1">0.7</td>
<td align="center" rowspan="1" colspan="1">3–8.5</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Free T4 ng/dL</td>
<td align="center" rowspan="1" colspan="1">0.9</td>
<td align="center" rowspan="1" colspan="1">0.58–1.64</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">TSH mUL/L</td>
<td align="center" rowspan="1" colspan="1">1.37</td>
<td align="center" rowspan="1" colspan="1">0.34–5.6</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">ACTH pg/mL</td>
<td align="center" rowspan="1" colspan="1">12</td>
<td align="center" rowspan="1" colspan="1"><50</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">Parathormone pg/mL</td>
<td align="center" rowspan="1" colspan="1">50</td>
<td align="center" rowspan="1" colspan="1">15–100</td>
</tr>
</tbody>
</table>
<table-wrap-foot>
<fn>
<p>TSH: thyroid stimulating hormone; ACTH: adrenocorticotropin; and T4: thyroxine.</p>
</fn>
</table-wrap-foot>
</table-wrap>
<table-wrap id="tab3" position="float">
<label>Table 3</label>
<caption>
<p>Dynamic endocrine tests.</p>
</caption>
<table frame="hsides" rules="groups">
<thead>
<tr>
<th align="left" rowspan="1" colspan="1">Test</th>
<th align="center" colspan="2" rowspan="1">GnRH (100 
<italic>μ</italic>
g)</th>
<th align="center" rowspan="1" colspan="1">ACTH (250 
<italic>μ</italic>
g) </th>
</tr>
</thead>
<tbody>
<tr>
<td align="left" rowspan="1" colspan="1">Hormone tested</td>
<td align="center" rowspan="1" colspan="1">FSH (UL/L)</td>
<td align="center" rowspan="1" colspan="1">LH (UL/L)</td>
<td align="center" rowspan="1" colspan="1">Cortisol (
<italic>μ</italic>
g/L)</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">0′</td>
<td align="center" rowspan="1" colspan="1">46.4</td>
<td align="center" rowspan="1" colspan="1">22.09</td>
<td align="center" rowspan="1" colspan="1">121.6</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">30′</td>
<td align="center" rowspan="1" colspan="1">51.25</td>
<td align="center" rowspan="1" colspan="1">52.17</td>
<td align="center" rowspan="1" colspan="1"></td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">60′</td>
<td align="center" rowspan="1" colspan="1">56.68</td>
<td align="center" rowspan="1" colspan="1">54.6</td>
<td align="center" rowspan="1" colspan="1">367.5</td>
</tr>
<tr>
<td align="left" rowspan="1" colspan="1">90′</td>
<td align="center" rowspan="1" colspan="1">58.04</td>
<td align="center" rowspan="1" colspan="1">44.53</td>
<td align="center" rowspan="1" colspan="1"></td>
</tr>
</tbody>
</table>
<table-wrap-foot>
<fn>
<p>ACTH: adrenocorticotropic hormone; FSH: follicle stimulating hormone; LH: luteinizing hormone; and GnRH: gonadotropin releasing hormone.</p>
</fn>
</table-wrap-foot>
</table-wrap>
</floats-group>
</pmc>
</record>

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