Abstract
Aphallia (Penile agenesis) is a very rare genitourinary anomaly that has profound surgical and psychological implications. Aphallia cases have 46, XY karyotype, except one reported case of penile agenesis having XX/XY mosaic karyotype. Early assignment of female gender and feminizing reconstruction of the perineum is the goal of treatment in cases of penile agenesis. This disorder results from partial or complete failure of development of genital tubercle. It usually coexists with other serious anomalies, which are incompatible with normal life. We present here with a 1 day old neonate who presented with aphallia and urethro-rectal fistula along with horse shoe kidney.
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