Agenesis of the penis: Patterns of associated malformations

Abstract

Agenesis of the penis is a rare malformation that occurs in otherwise normal males or together with other anomalies. In this article, we document unusual patterns of malformations in four such infants and analyze the nature and incidence of defects in 57 cases by clinical evaluation and numerical classification techniques. Although patients with this condition previously have been divided into groups based on the position of the urethral meatus in relation to the anus (presphincteric, postsphincteric, urethral atresia), our analyses suggest that most cases can be classified into either a severe form (16%) with renal aplasia or dysplasia and other caudal anomalies or a second group (72%) with low mortality and fewer additional malformations. The remaining cases in our group represented unique patterns stemming from a variety of causes, including etretinate embryopathy and the human homologue of the disorganization mutation. Agenesis of the penis occurs as a consequence of single gene disorders, teratogenic effects, or malformation sequences and associations and in unrecognized patterns of anomalies. It thus should be considered a developmental field defect. Its concurrence with scrotal hypoplasia, absent raphe, and anal anomalies implies a major disturbance of the caudal mesoderm. In such cases, severe renal defects are usually seen, and the prognosis is poor. When the patient has a patent urethra and normal scrotum, raphe, and testes, however, penile agenesis may be a localized malformation of the genital tubercle potentially related to penoscrotal transposition, a phylogenetic anomaly that is the normal genital arrangement in male marsupials, rabbits, and certain other mammals. Infants with isolated penile agenesis have generally done well. In the past, many were not treated; however, current recommendations are to use appropriate surgical and endocrine techniques to reassign female gender and enhance sexual and psychosocial functioning, though this approach is the subject of controversy.

Penile agenesis: A case report

“…Pregnancy was booked at a peripheral local government clinic and it was uneventful except for episode of Labioscrotal swellings are ectodermal in origin, which later develops into scrotum in the male and labia major in the female [4,7].…”

“…Clinical presentation is diagnostic but may be associated with other anorectal and systemic anomalies [3,4]. We report a case of a neonate with penile agenesis with associated genitourinary anomalies.…”

Male Genitourinary System

“…This can be due to single gene disorders, teratogenic effects, or malformation sequences. All cases have been sporadic and most have been associated with 46 XY karyotype (Evans et al 1999). The typical appearance of aphallia is a well-developed scrotum with descended testicles and absent penile shaft.…”

“…Evans et al (1999) classified penile agenesis into two categories based on (1) the presence of severe renal aplasia/ dysplasia and other caudal anomalies and (2) those with few abnormalities and low mortality. The severe category includes those with likely major disturbances of the caudal mesoderm because of associated anomalies including scrotal hypoplasia, absent raphe, and anal anomalies.…”

“…The severe category includes those with likely major disturbances of the caudal mesoderm because of associated anomalies including scrotal hypoplasia, absent raphe, and anal anomalies. The severe category has a much higher mortality due to lethal renal anomalies compared to the second group, which includes those with patent urethra, normal scrotum, raphe, and testes (Evans et al 1999). Skoog and Belman (1989) classified penile agenesis based on the location of the urethral meatus in relationship to the anal sphincter.…”