¨A síndrome de Klinefelter (SK) é a causa mais comum de hipogonadismo masculino e a anomalia de cromossomos sexuais mais comum em homens, com uma prevalência estimada de um em cada 600 homens nascidos vivos. Caracteriza-se citogeneticamente pela presença de um cromossomo X extra (47,XXY), que ocorre em cerca de 90% dos casos; porém, variantes da SK, como o mosaicismo (46,XY/47,XXY) e outras aneuploidias mais raras (48,XXXY, 48,XXYY, 49,XXXXY) já foram descritas. Os achados clínicos principais, presentes em quase todos os indivíduos com SK, são os testículos pequenos, a azoospermia e o aumento das gonadotrofinas, em especial do follicle stimulating hormone (FSH); porém, outros achados, como ginecomastia, atraso puberal, pilificação pubiana e corporal diminuídas, micropênis, alta estatura, aumento da envergadura em relação à estatura, distúrbios de aprendizado, doenças psiquiátricas, doença venosa periférica, obesidade abdominal, síndrome metabólica, maior risco de doenças autoimunes e câncer, podem ser observados com diferentes frequências de acordo com a população avaliada, a faixa etária incluída e o cariótipo encontrado. É uma doença de curso crônico com sérias repercussões sobre o aparelho reprodutor masculino, sendo importante causa de infertilidade em nível mundial. A SK continua sendo uma doença pouco diagnosticada, pois os pacientes procuram pouco os médicos, e os médicos nem sempre estão atentos ao diagnóstico. Por isso, apenas cerca de 25% de todos os pacientes adultos com SK são diagnosticados; a maioria durante a investigação de infertilidade e/ou hipogonadismo; e menos de 10% de todos os casos com SK são diagnosticados antes da puberdade. ¨
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■ Application of neural networks for classification of Patau, Edwards, Down, Turner and Klinefelter syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics
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■ Leg ulcers associated with Klinefelter´s syndrome: a case report and review of the literature
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■ The cognitive phenotype in Klinefelter syndrome: a review of the literature incluing genetic and hormonal factors
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■ Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis
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■ Klinefelter syndrome
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■ Síndrome de Klinefelter associada a lupus eritematoso sistêmico: Interferência dos esteróides sexuais.
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