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HOME > J Pathol Transl Med > Volume 20(4); 1986 > Article
Case Report Male Pseudohermaphroditism Associated with Bochdalek Diaphragmatic Hernia: An autopsy case report.
Eun Sil Yu, Je Geun Chi, Sang Sook Lee
Journal of Pathology and Translational Medicine 1986;20(4):470-474
DOI: https://doi.org/
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Department of Pathology, College of Medicine, Seoul National University, Seoul, Korea.

An autopsy case of male pseudohermaphrodite associated with Bochdalek diaphragmatic hernia is reported. This newborn infant showed a large clitoris and hypospadic urethra which was the only opening in the perineum except for the anus. There were urethrovaginal fistula and uterus didelphys. The adrenals were slightly larger than normal, but microscopically did not show any features of cortical hyperplasia. Well formed testes were found and were histologically unremarkable. In addition, Bochdalek type of diaphragmatic hernia was present, associated with severe left lung hypoplasia and massively herniated abdominal organs into the chest cavity, shifting the mediastinum considerably and eventually led to death in a few minutes after birth. The pathogenesis of genital anomaly and diaphragmatic hernia is briefly discussed and it is suggested that this type of genital abnormality might be due to defect of testicular M llerian inhibitor factor and can be categorized as incomplete male pseudohermaphroditism.

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