Abstract

Aphallia or penile agenesis is complete absence of the penis due to complete or partial failure in the phallic development of the genital tubercle. It is a rare form of genital ambiguity with an estimated incidence of 1 in 10-30 million births and <100 cases reported till date. Very few cases have survived to adulthood. We report a case of aphallia, who presented to us at the age of 45. Clinical presentation in an adult is the absence of the penis with a normal scrotum, normally descended testis and well developed secondary sexual characters. This is best evaluated by magnetic resonance imaging while treatment options vary from gender reassignment during infancy to phalloplasty and urethral transposition in adulthood. Preservation of urinary continence and maintenance of urinary outlet should be the primary aim of treatment of aphallia in an adult.

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