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    "textoCompleto" => "<span class="elsevierStyleSections"><span class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Introduction</span><p class="elsevierStylePara elsevierViewall">Klinefelter&#39;s syndrome is the most frequent major abnormality of sexual differentiation in men and affects one in every 500&#8211;1000 born males&#46;<a class="elsevierStyleCrossRef" href="#bib1"><span class="elsevierStyleSup">1</span></a> Men with Klinefelter&#39;s syndrome have more than one X chromosomes&#44; usually two X chromosomes &#40;47-XXY&#41;&#46; The phenotype is characterized by eunuchoid appearance&#44; increased length of legs and arms&#44; scanty facial and body hair&#44; gynecomastia&#44; small and firm testes&#44; and hyperpigmentation of the lower extremities&#46;<a class="elsevierStyleCrossRef" href="#bib2"><span class="elsevierStyleSup">2</span></a> Hormonally&#44; the syndrome is characterized by hypergonadotropic hypogonadism in which testosterone level is usually half of normal&#46;<a class="elsevierStyleCrossRefs" href="#bib2"><span class="elsevierStyleSup">2&#44;3</span></a> Patients with Klinefelter&#39;s syndrome show a higher percent of Systemic Lupus Erythematosus &#40;SLE&#41; and other skin-related autoimmune diseases than the normal population&#46; SLE may be a presenting symptom of Klinefelter&#39;s syndrome and may lead to diagnosis of the disease&#46;<a class="elsevierStyleCrossRef" href="#bib4"><span class="elsevierStyleSup">4</span></a> Here we present a case of juvenile Systemic Lupus Erythematosus with Klinefelter&#39;s syndrome and most probably the first report from Middle East&#46;</p></span><span class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Case report</span><p class="elsevierStylePara elsevierViewall">A 14-year-old Iranian boy presented to our department with a 3-week history of arthritis on both of his wrists and ankles&#44; accompanied by myalgia and photosensitivity&#46; His physical examination revealed butterfly rash&#44; palmar and plantar erythema&#44; and some small ulcers on his legs&#46; He had low head hair implantment&#44; and hyperpigmentation on face&#46; Other physical findings were gynecomastia&#44; pectus excavatum&#44; small and firm testicles&#44; and long extremities&#46; The results of his laboratory investigations were as follows&#58; white blood cell count 4&#46;2&#215;103&#47;mm<span class="elsevierStyleSup">3</span> &#40;neutrophils 72&#37;&#44; lymphocytes 24&#37;&#44; monocytes 4&#37;&#41;&#44; red blood cells count 424&#215;104&#47;mm<span class="elsevierStyleSup">3</span>&#44; platelets count 140&#215;103&#47;mm<span class="elsevierStyleSup">3</span>&#44; hemoglobin 11&#46;3<span class="elsevierStyleHsp" style=""></span>g&#47;dL&#44; hematocrit 34&#46;1&#37;&#44; erythrocyte sedimation rate 84<span class="elsevierStyleHsp" style=""></span>mm&#47;h&#44; aspartate amino transferase 37<span class="elsevierStyleHsp" style=""></span>U&#47;L&#44; alanine aminotransferase 31<span class="elsevierStyleHsp" style=""></span>U&#47;L&#44; lactate dehydrogenase 232<span class="elsevierStyleHsp" style=""></span>U&#47;L&#44; creatine kinase 67<span class="elsevierStyleHsp" style=""></span>U&#47;L&#44; aldolase 5&#46;6<span class="elsevierStyleHsp" style=""></span>U&#47;L&#44; blood urea nitrogen 27<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#44; creatinine 0&#46;9<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#44; total protein 7&#46;4<span class="elsevierStyleHsp" style=""></span>g&#47;dL&#44; antinuclear antibody &#40;positive &#62; 1&#58;160 homogeneous pattern&#41;&#44; rheumatoid factors &#40;positive &#43;2&#41;&#44; C-reactive protein &#40;positive 17<span class="elsevierStyleHsp" style=""></span>mg&#47;L&#41;&#44; C3 54<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#44; C4 11<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#44; IgG 2210<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#44; IgM 220<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#44; IgA 191<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#44; and IgE 500<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#46; His urine analysis revealed proteinuria 750<span class="elsevierStyleHsp" style=""></span>mg&#47;1000<span class="elsevierStyleHsp" style=""></span>ml of urine collection&#46; Results of other blood tests were within normal limits or negative&#44; including lupus anticoagulant&#44; &#946;2-glycoprotein&#44; anticardiolipin IgG and IgM Abs&#44; anti-RO&#44; anti-LA&#44; anti-SM Ab&#44; P &#38; C-ANCA&#44; VDRL&#44; TSH&#44; FT4&#44; anti-T microsomal&#44; antithyroglobulin&#44; cryoglobulins&#44; hepatitis C antibodies&#44; hepatitis B antigen&#44; protein C activity&#44; and protein S free&#46; According to American College of Rheumatology criteria for SLE&#44; he was diagnosed as having juvenile Systemic Lupus Erythematosus&#46;<a class="elsevierStyleCrossRef" href="#bib5"><span class="elsevierStyleSup">5</span></a> His renal biopsy showed mesangial glomerulitis &#40;World Health Organization Class II&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib6"><span class="elsevierStyleSup">6</span></a> On admission&#44; his endocrinological work-up discovered luteinizing hormone &#40;6&#46;9<span class="elsevierStyleHsp" style=""></span>mIU&#47;mL &#91;normal range for men 1&#8211;6<span class="elsevierStyleHsp" style=""></span>mIU&#47;mL&#93;&#41;&#44; follicle stimulating hormone &#40;22<span class="elsevierStyleHsp" style=""></span>mIU&#47;mL &#91;normal range for men 1&#46;4&#8211;15&#46;4<span class="elsevierStyleHsp" style=""></span>mIU&#47;mL&#93;&#41;&#44; and testosterone &#40;0&#46;2<span class="elsevierStyleHsp" style=""></span>ng&#47; mL &#91;normal range for men 2&#46;5&#8211;9<span class="elsevierStyleHsp" style=""></span>ng&#47;mL&#93;&#41;&#44; which indicate hypergonadotropic hypogonadism&#46; His Karyotyping revealed 47 XXY karyotype&#44; which is diagnostic of Klinefelter&#39;s syndrome &#40;<a class="elsevierStyleCrossRef" href="#fig1">Fig&#46; 1</a>&#41;&#46; He was treated with oral prednisone&#44; Azathioprine&#44; and hydroxychloroquine sulfate&#46; At the same time&#44; the patient was given intra-muscular testosterone once monthly for 1 year&#46; Blood tests were performed for follow-up of the immune state&#44; which were all within normal limits&#46;</p><elsevierMultimedia ident="fig1"></elsevierMultimedia></span><span class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Discussion</span><p class="elsevierStylePara elsevierViewall">Klinefelter&#39;s syndrome can present at any age&#46; In adult men&#44; the diagnosis may be made during investigation for sterility&#44; but&#44; at puberty&#44; eunuch body might be the hallmark&#46; Children with Klinefelter&#39;s syndrome might be diagnosed because of learning difficulties or social problems&#46; Klinefelter&#39;s syndrome and SLE occur together more often than would be expected by chance alone&#46;<a class="elsevierStyleCrossRef" href="#bib7"><span class="elsevierStyleSup">7</span></a> Studies have shown a clear relationship between low levels of testosterone and high prevalence of ulceration in patients with Klinefelter&#39;s syndrome&#46; Treatment with testosterone leads to improvement of leg ulcers in these patients&#46;<a class="elsevierStyleCrossRef" href="#bib8"><span class="elsevierStyleSup">8</span></a> Our patient showed both leg ulcers and low level of testosterone&#44; whose leg ulcers were also reduced during subsequent therapy that included testosterone&#46;</p><p class="elsevierStylePara elsevierViewall">Males with untreated hypogonadism&#44; associated with significant gonadal failure and very low levels of testosterone&#44; have an increased risk of developing rheumatoid&#47;autoimmune diseases&#46; In fact&#44; testicular dysfunction predisposes to the development of rheumatoid&#47;autoimmune diseases&#46; These patients have an increased frequency of antinuclear antibody and anticardiolipin antibodies compared with other hypogonadotropic hypogonadic patients&#46;<a class="elsevierStyleCrossRef" href="#bib9"><span class="elsevierStyleSup">9</span></a> Although&#44; our patient&#39;s sera were not positive for anticardiolipin antibodies&#44; it was positive for antinuclear antibody &#40;positive &#62; 1&#58;160 homogeneous pattern&#41;&#46; SLE may be a presenting symptom of Klinefelter&#39;s syndrome and may lead to diagnosis of the disease&#46; The first presentation of our patient was arthritis&#44; myalgia&#44; and photosensitivity&#46; However&#44; his follow-up revealed hypergonadotropic hypogonadism and his karyotype confirmed the diagnosis of Kelienfelter&#39;s syndrome&#46;</p><p class="elsevierStylePara elsevierViewall">Humoral and cellular immunities are enhanced in Klinefelter&#39;s syndrome&#44; as a result of testosterone deficiency and increased levels of estradiol&#44; which enhance autoantibody production&#46; Treatment with testosterone has also proved to suppress both cellular and humoral immunities in these patients&#46;<a class="elsevierStyleCrossRefs" href="#bib9"><span class="elsevierStyleSup">9&#44;10</span></a></p></span><span class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Conclusion</span><p class="elsevierStylePara elsevierViewall">The frequency of Klinefelter&#39;s syndrome is increased in men with SLE compared with its prevalence in men without SLE&#46; Therefore Klinefelter&#39;s syndrome and SLE might be associated&#46; Whereas Klinefelter&#39;s syndrome in children is often subclinical&#44; the pediatric rheumatologists treating male children with lupus should be aware of Klinefelter&#39;s syndrome and provide them access to imperative medical management&#46;</p></span></span>"
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Case report
Juvenile Systemic Lupus Erythematosus associated with Klinefelter's syndrome: A case report
Lupus eritematoso sistémico de inicio juvenil asociado con el síndrome de klinefelter: un informe de casos
Reza Shiaria,
Autor para correspondencia
shiareza@yahoo.com

Corresponding author.
, Shirin Farivarb
a Pediatric Rheumatology, Department of Pediatrics, Mofid Children's Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran
b Division of Genetics, Faculty of Biological Science, Shahid Beheshti University, G.C., Tehran, Iran
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    "textoCompleto" => "<span class="elsevierStyleSections"><span class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Introduction</span><p class="elsevierStylePara elsevierViewall">Klinefelter&#39;s syndrome is the most frequent major abnormality of sexual differentiation in men and affects one in every 500&#8211;1000 born males&#46;<a class="elsevierStyleCrossRef" href="#bib1"><span class="elsevierStyleSup">1</span></a> Men with Klinefelter&#39;s syndrome have more than one X chromosomes&#44; usually two X chromosomes &#40;47-XXY&#41;&#46; The phenotype is characterized by eunuchoid appearance&#44; increased length of legs and arms&#44; scanty facial and body hair&#44; gynecomastia&#44; small and firm testes&#44; and hyperpigmentation of the lower extremities&#46;<a class="elsevierStyleCrossRef" href="#bib2"><span class="elsevierStyleSup">2</span></a> Hormonally&#44; the syndrome is characterized by hypergonadotropic hypogonadism in which testosterone level is usually half of normal&#46;<a class="elsevierStyleCrossRefs" href="#bib2"><span class="elsevierStyleSup">2&#44;3</span></a> Patients with Klinefelter&#39;s syndrome show a higher percent of Systemic Lupus Erythematosus &#40;SLE&#41; and other skin-related autoimmune diseases than the normal population&#46; SLE may be a presenting symptom of Klinefelter&#39;s syndrome and may lead to diagnosis of the disease&#46;<a class="elsevierStyleCrossRef" href="#bib4"><span class="elsevierStyleSup">4</span></a> Here we present a case of juvenile Systemic Lupus Erythematosus with Klinefelter&#39;s syndrome and most probably the first report from Middle East&#46;</p></span><span class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Case report</span><p class="elsevierStylePara elsevierViewall">A 14-year-old Iranian boy presented to our department with a 3-week history of arthritis on both of his wrists and ankles&#44; accompanied by myalgia and photosensitivity&#46; His physical examination revealed butterfly rash&#44; palmar and plantar erythema&#44; and some small ulcers on his legs&#46; He had low head hair implantment&#44; and hyperpigmentation on face&#46; Other physical findings were gynecomastia&#44; pectus excavatum&#44; small and firm testicles&#44; and long extremities&#46; The results of his laboratory investigations were as follows&#58; white blood cell count 4&#46;2&#215;103&#47;mm<span class="elsevierStyleSup">3</span> &#40;neutrophils 72&#37;&#44; lymphocytes 24&#37;&#44; monocytes 4&#37;&#41;&#44; red blood cells count 424&#215;104&#47;mm<span class="elsevierStyleSup">3</span>&#44; platelets count 140&#215;103&#47;mm<span class="elsevierStyleSup">3</span>&#44; hemoglobin 11&#46;3<span class="elsevierStyleHsp" style=""></span>g&#47;dL&#44; hematocrit 34&#46;1&#37;&#44; erythrocyte sedimation rate 84<span class="elsevierStyleHsp" style=""></span>mm&#47;h&#44; aspartate amino transferase 37<span class="elsevierStyleHsp" style=""></span>U&#47;L&#44; alanine aminotransferase 31<span class="elsevierStyleHsp" style=""></span>U&#47;L&#44; lactate dehydrogenase 232<span class="elsevierStyleHsp" style=""></span>U&#47;L&#44; creatine kinase 67<span class="elsevierStyleHsp" style=""></span>U&#47;L&#44; aldolase 5&#46;6<span class="elsevierStyleHsp" style=""></span>U&#47;L&#44; blood urea nitrogen 27<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#44; creatinine 0&#46;9<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#44; total protein 7&#46;4<span class="elsevierStyleHsp" style=""></span>g&#47;dL&#44; antinuclear antibody &#40;positive &#62; 1&#58;160 homogeneous pattern&#41;&#44; rheumatoid factors &#40;positive &#43;2&#41;&#44; C-reactive protein &#40;positive 17<span class="elsevierStyleHsp" style=""></span>mg&#47;L&#41;&#44; C3 54<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#44; C4 11<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#44; IgG 2210<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#44; IgM 220<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#44; IgA 191<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#44; and IgE 500<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#46; His urine analysis revealed proteinuria 750<span class="elsevierStyleHsp" style=""></span>mg&#47;1000<span class="elsevierStyleHsp" style=""></span>ml of urine collection&#46; Results of other blood tests were within normal limits or negative&#44; including lupus anticoagulant&#44; &#946;2-glycoprotein&#44; anticardiolipin IgG and IgM Abs&#44; anti-RO&#44; anti-LA&#44; anti-SM Ab&#44; P &#38; C-ANCA&#44; VDRL&#44; TSH&#44; FT4&#44; anti-T microsomal&#44; antithyroglobulin&#44; cryoglobulins&#44; hepatitis C antibodies&#44; hepatitis B antigen&#44; protein C activity&#44; and protein S free&#46; According to American College of Rheumatology criteria for SLE&#44; he was diagnosed as having juvenile Systemic Lupus Erythematosus&#46;<a class="elsevierStyleCrossRef" href="#bib5"><span class="elsevierStyleSup">5</span></a> His renal biopsy showed mesangial glomerulitis &#40;World Health Organization Class II&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib6"><span class="elsevierStyleSup">6</span></a> On admission&#44; his endocrinological work-up discovered luteinizing hormone &#40;6&#46;9<span class="elsevierStyleHsp" style=""></span>mIU&#47;mL &#91;normal range for men 1&#8211;6<span class="elsevierStyleHsp" style=""></span>mIU&#47;mL&#93;&#41;&#44; follicle stimulating hormone &#40;22<span class="elsevierStyleHsp" style=""></span>mIU&#47;mL &#91;normal range for men 1&#46;4&#8211;15&#46;4<span class="elsevierStyleHsp" style=""></span>mIU&#47;mL&#93;&#41;&#44; and testosterone &#40;0&#46;2<span class="elsevierStyleHsp" style=""></span>ng&#47; mL &#91;normal range for men 2&#46;5&#8211;9<span class="elsevierStyleHsp" style=""></span>ng&#47;mL&#93;&#41;&#44; which indicate hypergonadotropic hypogonadism&#46; His Karyotyping revealed 47 XXY karyotype&#44; which is diagnostic of Klinefelter&#39;s syndrome &#40;<a class="elsevierStyleCrossRef" href="#fig1">Fig&#46; 1</a>&#41;&#46; He was treated with oral prednisone&#44; Azathioprine&#44; and hydroxychloroquine sulfate&#46; At the same time&#44; the patient was given intra-muscular testosterone once monthly for 1 year&#46; Blood tests were performed for follow-up of the immune state&#44; which were all within normal limits&#46;</p><elsevierMultimedia ident="fig1"></elsevierMultimedia></span><span class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Discussion</span><p class="elsevierStylePara elsevierViewall">Klinefelter&#39;s syndrome can present at any age&#46; In adult men&#44; the diagnosis may be made during investigation for sterility&#44; but&#44; at puberty&#44; eunuch body might be the hallmark&#46; Children with Klinefelter&#39;s syndrome might be diagnosed because of learning difficulties or social problems&#46; Klinefelter&#39;s syndrome and SLE occur together more often than would be expected by chance alone&#46;<a class="elsevierStyleCrossRef" href="#bib7"><span class="elsevierStyleSup">7</span></a> Studies have shown a clear relationship between low levels of testosterone and high prevalence of ulceration in patients with Klinefelter&#39;s syndrome&#46; Treatment with testosterone leads to improvement of leg ulcers in these patients&#46;<a class="elsevierStyleCrossRef" href="#bib8"><span class="elsevierStyleSup">8</span></a> Our patient showed both leg ulcers and low level of testosterone&#44; whose leg ulcers were also reduced during subsequent therapy that included testosterone&#46;</p><p class="elsevierStylePara elsevierViewall">Males with untreated hypogonadism&#44; associated with significant gonadal failure and very low levels of testosterone&#44; have an increased risk of developing rheumatoid&#47;autoimmune diseases&#46; In fact&#44; testicular dysfunction predisposes to the development of rheumatoid&#47;autoimmune diseases&#46; These patients have an increased frequency of antinuclear antibody and anticardiolipin antibodies compared with other hypogonadotropic hypogonadic patients&#46;<a class="elsevierStyleCrossRef" href="#bib9"><span class="elsevierStyleSup">9</span></a> Although&#44; our patient&#39;s sera were not positive for anticardiolipin antibodies&#44; it was positive for antinuclear antibody &#40;positive &#62; 1&#58;160 homogeneous pattern&#41;&#46; SLE may be a presenting symptom of Klinefelter&#39;s syndrome and may lead to diagnosis of the disease&#46; The first presentation of our patient was arthritis&#44; myalgia&#44; and photosensitivity&#46; However&#44; his follow-up revealed hypergonadotropic hypogonadism and his karyotype confirmed the diagnosis of Kelienfelter&#39;s syndrome&#46;</p><p class="elsevierStylePara elsevierViewall">Humoral and cellular immunities are enhanced in Klinefelter&#39;s syndrome&#44; as a result of testosterone deficiency and increased levels of estradiol&#44; which enhance autoantibody production&#46; Treatment with testosterone has also proved to suppress both cellular and humoral immunities in these patients&#46;<a class="elsevierStyleCrossRefs" href="#bib9"><span class="elsevierStyleSup">9&#44;10</span></a></p></span><span class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Conclusion</span><p class="elsevierStylePara elsevierViewall">The frequency of Klinefelter&#39;s syndrome is increased in men with SLE compared with its prevalence in men without SLE&#46; Therefore Klinefelter&#39;s syndrome and SLE might be associated&#46; Whereas Klinefelter&#39;s syndrome in children is often subclinical&#44; the pediatric rheumatologists treating male children with lupus should be aware of Klinefelter&#39;s syndrome and provide them access to imperative medical management&#46;</p></span></span>"
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        "resumen" => "<p class="elsevierStyleSimplePara elsevierViewall">We present the first reported case of juvenile Systemic Lupus Erythematosus with Klinefelter&#39;s syndrome in a 14-year-old Iranian boy who had leg ulcers and arthritis&#46; He had low level of testosterone accompanied with hypergonadotropic hypogonadism&#46; This case emphasizes the importance of two X chromosomes as a risk factor for Systemic Lupus Erythematosus in women and men with Klinefelter&#39;s syndrome &#40;47&#44; XXY&#41;&#46;</p>"
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        "resumen" => "<p class="elsevierStyleSimplePara elsevierViewall">Presentamos el primer caso notificado de lupus eritematoso sist&#233;mico de inicio juvenil junto con un s&#237;ndrome de Klinefelter en un ni&#241;o iran&#237; de 14 a&#241;os de edad que presentaba &#250;lceras en piernas y artritis&#46; Presentaba valores reducidos de testosterona acompa&#241;ados con hipogonadismo hipergonadotr&#243;pico&#46; Este caso resalta la importancia de dos cromosomas X como factor de riesgo de lupus eritematoso sist&#233;mico en mujeres y hombres con el s&#237;ndrome de Klinelfelter &#40;47&#44; XXY&#41;&#46;</p>"
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2011 Marzo 3 0 3
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2011 Enero 5 0 5
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