title: Comorbidity between Klinefelter syndrome and diaphragmatic hernia. A case report.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
authors: Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil.
authors: Carolina Melendez
authors: CM
authors: Valdez
authors: Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors: Stephan Philip Leonhardt
authors: SP
authors: Altmayer
authors: Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil.
authors: Adyr Eduardo Virmond
authors: AE
authors: Faria
authors: Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil.
authors: Aline
authors: A
authors: Weiss
authors: Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil.
authors: Jorge Alberto Bianchi
authors: JA
authors: Telles
authors: Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil.
authors: Paulo Renato Krall
authors: PR
authors: Fell
authors: Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil.
authors: Luciano Vieira
authors: LV
authors: Targa
authors: Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors: Paulo Ricardo Gazzola
authors: PR
authors: Zen
authors: Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors: Rafael Fabiano Machado
authors: RF
authors: Rosa
mesh_terms: D000293:Adolescent; D005260:Female; D065630:Hernias, Diaphragmatic, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal