Comorbidity between Klinefelter syndrome and diaphragmatic hernia. A case report

Abstract

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 fetal 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. Fetal echocardiography showed only a dextroposed heart. Fetal 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. Fetal 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. RESUMOCONTEXTO: Lesões císticas intratorácicas são diagnosticadas em ampla variedade de faixas etárias, e o uso aumentado dos estudos de imagem pré-natal tem permitido a detecção desses defeitos ainda intraútero. RELATO DO CASO: Uma gestante de 17 anos que estava em sua segunda gravidez, com 23 semanas de gestação, apresentava ultrassom com evidência de imagem cística anecoica no hemitórax esquerdo fetal. O ultrassom morfológico realizado no hospital verificou que esta media 3,7 cm x 2,1 cm x 1,6 cm. Evidenciou-se também a presença de polidrâmnio. Neste momento, levantou-se a hipótese de malformação adenomatoide cística. A ecocardiografia fetal mostrou apenas coração desviado para a direita. A ressonân-cia magnética fetal revelou imagem compatível com hérnia diafragmática à esquerda, contendo estôma-go e, pelo menos, primeira e segunda partes do duodeno, lobo esquerdo do fígado, baço, segmentos de intestino delgado e porções do cólon. O estômago mostrava-se muito distendido e o coração, deslocado para a direita. Havia redução importante do volume do pulmão esquerdo. O cariótipo fetal mostrou constituição cromossômica 47,XXY, compatível com a síndrome de Klinefelter. Em nossa revisão da literatura, encontramos apenas um caso de associação entre síndrome de Klinefelter e hérnia diafragmática. CONCLUSÃO: Acreditamos que a associação observada neste caso foi puramente uma coincidência, uma vez que ambas as condições são relativamente comuns. A chance de os dois eventos ocorrerem simultaneamente é estimada em 1 ...

Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia

“…6 Valdez et al reported a case in which CDH and KS were diagnosed prenatally. 7 In a recent review on CDH by Wynn et al, the cause of approximately 80% of CDH cases was unknown with no genetic abnormalities, demonstrating our limited understanding of the genetic etiologies of CDH as well as suggesting nongenetic, non-Mendelian, or multifactorial etiologies for CDH. 8 In addition to single-gene mutations in GAT4, GATA6, MYH10, ZFPM2/FOG2, and DIPS1, other rare single-gene mutations have also been reported with some patients with CDH.…”