Penis agenesis associated with mental retardation: a case report

Agenesis of the penis which has a reported incidence occurring once in 10 to 30 million live births is an extremely rare genitourinary anomaly [2, 9, 14, 15]. There are two major groups of patients with penile agenesis those with congenital anomalies incompatible with life, and those with penile agenesis as only malformation [1–17]. Including severe defects in the development of the caudal axis, genitourinary system malformations and anomalies of the distal gastrointestinal tract are frequently seen with this abnormality [2, 5, 9, 11, 12, 14, 16, 17]. Penile agenesis as only malformation consists of an absent penis but the scrotum usually appears normal and contains palpabl testicles [6, 12, 17]. The opening of the urethra could be either over the pubis, or at any point on the perineal midline or, most frequently, just anterior wall of the rectum [11, 16]. This report first describes an extremely unusual case of a child with penis agenesis associated with mental retardation.

Agenesis of the penis which has a reported incidence occurring once in 10 to 30 million live births is an extremely rare genitourinary anomaly [2, 9, 14, 15]. There are two major groups of patients with penile agenesis those with congenital anomalies incompatible with life, and those with penile agenesis as only malformation [1–17]. Including severe defects in the development of the caudal axis, genitourinary system malformations and anomalies of the distal gastrointestinal tract are frequently seen with this abnormality [2, 5, 9, 11, 12, 14, 16, 17]. Penile agenesis as only malformation consists of an absent penis but the scrotum usually appears normal and contains palpabl testicles [6, 12, 17]. The opening of the urethra could be either over the pubis, or at any point on the perineal midline or, most frequently, just anterior wall of the rectum [11, 16]. This report first describes an extremely unusual case of a child with penis agenesis associated with mental retardation.