Comorbidity between Klinefelter syndrome and diaphragmatic hernia. A case report

Sao Paulo Medical Journal

Carolina Melendez Valdez¹  Stephan Philip Leonhardt Altmayer¹  Adyr Eduardo Virmond Faria¹  Aline Weiss¹  Jorge Alberto Bianchi Telles¹  Paulo Renato Krall Fell¹  Luciano Vieira Targa¹  Paulo Ricardo Gazzola Zen¹  Rafael Fabiano Machado Rosa¹ 

关键词: Klinefelter syndrome;    Sex chromosomes;    Karyotype;    Hernia;    diaphragmatic;    Prenatal diagnosis;    Síndrome de Klinefelter;    Cromossomos sexuais;    Cariótipo;    Hérnia diafragmática;    Diagnóstico pré-natal;   

DOI  :  10.1590/1516-3180.2014.1325737

来源: SciELO

【 摘 要 】

CONTEXT: Intrathoracic cystic lesions have been diagnosed in a wide variety of age groups, and the increasing use of prenatal imaging studies has allowed detection of these defects even in utero.CASE REPORT: A 17-year-old pregnant woman in her second gestation, at 23 weeks of pregnancy, presented an ultrasound with evidence of a cystic anechoic image in the fet al left hemithorax. A morphological ultrasound examination performed at the hospital found that this cystic image measured 3.7 cm x 2.1 cm x 1.6 cm. Polyhydramnios was also present. At this time, the hypothesis of cystic adenomatoid malformation was raised. Fet al echocardiography showed only a dextroposed heart. Fet al magnetic resonance imaging produced an image compatible with a left diaphragmatic hernia containing the stomach and at least the first and second portions of the duodenum, left lobe of the liver, spleen, small intestine segments and portions of the colon. The stomach was greatly distended and the heart was shifted to the right. There was severe volume reduction of the left lung. Fet al karyotyping showed the chromosomal constitution of 47,XXY, compatible with Klinefelter syndrome. In our review of the literature, we found only one case of association between Klinefelter syndrome and diaphragmatic hernia.CONCLUSIONS: We believe that the association observed in this case was merely coincidental, since both conditions are relatively common. The chance of both events occurring simultaneously is estimated to be 1 in 1.5 million births.

【 授权许可】

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