46, XY Female With Cloacal Exstrophy And Masculinization At Puberty

Main Category: Pediatrics / Children's Health
Also Included In: Genetics;  Endocrinology
Article Date: 01 Nov 2009 - 4:00 PST

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UroToday.com - Management of patients with 46, XY cloacal exstrophy is becoming more controversial as long-term studies suggest that prenatal testosterone exposure may imprint the brains of these children prior to puberty, and contributes to male sexual identity.

While identifying the cryptorchid testis with the latest imaging preoperatively would be ideal, the current imaging modalities including US and MRI are not very sensitive to detect cryptorchid testis in both the isolated cryptorchidism and cloacal extrophy patient populations.

This case report demonstrates the challenges associated with identifying a cryptorchid testis in a 17 year old 46, XY patient with cloacal exstrophy, and provides one example where prenatal and postnatal testosterone exposure did not correlate with male sexual identity, further contributing to the ongoing controversy surrounding gender assignment in this patient population.

Written by H. Mirheydar, MD, L.S. Baskin, MD and M. DiSandro, MD as part of Beyond the Abstract on UroToday.com

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