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Penile agenesis associated with urethral and bilateral renal agenesis
PENILE AGENESIS ASSOCIATED WITH URETHRAL AND BILATERAL RENAL AGENESIS TIMOTHY A. O’CONNOR, M.D. MAUREEN L. LACOUR, M.D. EDWARD R. FRIEDLANDER, M.D. RON THOMAS
From the Divisions of Neonatology, Pediatrics, and Pathology, The Children’s Mercy Hospital, University of Missouri-Kansas City, Kansas City, Missouri ABSTRACT-Penile agenesis is a rare anomaly, with an estimated incidence of 1 in 30 million. Most cases are compatible with life but require early surgical intervention. This case is unusual in that there was an associated agenesis of the kidneys and urethra leading to fatal oligohydramnios sequence with pulmonary hypoplasia. Penile agenesis is a rare anomaly with only about 70 cases reported in the literature. The estimated incidence of this condition is about 1 in 10 to 30 million live births.1,2 In a recent review of the literature nearly 90 percent of 50 patients reviewed had a urethral opening, and only 6 had an associated absence of the urethra.3 To our knowledge, no patients have been described with penile and urethral agenesis associated with bilateral renal agenesis.
urethral meatus, or testes to be found (Fig. 1). A normal anus was present. A chest x-ray film revealed small lung volumes and a normal cardiac shadow. Despite medical intervention, the infant died of pulmonary hypoplasia at two hours of life. An autopsy was performed. Molding of the face and lower extremities and hypoplasia of
Case Report This infant was born at thirty-two weeks gestation to a twenty-eight-year-old woman (gravida 2, para 1) whose pregnancy had been complicated by limited prenatal care and oligohydramnios. Birth was by spontaneous vaginal delivery after presenting to the hospital in advanced preterm labor. Immediately on delivery respiratory insufficiency was noted marked by severe retractions, cyanosis, and bradycardia. The infant was intubated and required mechanical ventilation to maintain a normal heart rate. On physical examination the infant manifested characteristic features of oligohydramnios sequence, namely a flattened nose, small thoracic cavity, and deformities of the lower extremities. Examination of the perineum revealed a well-formed scrotum with no phallus,
564
FIGURE 1. Postmortem photograph scrotum and absence of penis.
UROLOGY
/ JUNE 1993
/ VOLUME
shows normal
41, NUMBER 6
the lungs were again noted. There was no penis or urethra. The urinary bladder was empty. Both ureters were present, although the right ureterovesical junction was not patent. No renal tissue was found grossly or microscopically, The right testis was in the retroperitoneum, and and the left testis was at the inner inguinal ring. The child also had a 3-mm ventricular septal defect and abnormal palmar creases bilaterally. Chromosome analysis revealed a normal 46, XY karyotype and no abnormalities at the 475 band level. There was no history of consanguinity and no family history of similar anomalies.
Department of Child Health
Comment
University
Penile agenesis is thought to occur due to a failure of development of the genital tubercle. In most cases the urethral opening is located either on the perineum between the scrotum and anus, or as a fistula to the gastrointestinal tract, typically to the rectuma These account for approximately 90 percent of cases and have a mortality rate of about 20 percent.3 When penile agenesis is associated with urethral agenesis, it is likely that diminished urine flow in fetal life leads to oligohydramnios and severe deformations. This is supported by two recently reported cases where penile agenesis with a urethral opening to the rectum was associated with imperforate anus. Both of these
UROLOGY
/
JUNE
1993
i
VOLUME
infants died of pulmonary hypoplasia with renal dysplasia. 5 Only 7 cases of penile agenesis have been described where an associated absence of the urethra was noted.1,3*6%7 All of those cases were fatal secondary to multiple anomalies in other systems or pulmonary hypoplasia. Unilateral renal agenesis has been described in association with penile and urethral agenesis Bilateral renal agenesis has not been described associated with penile and urethral agenesis except for one case in which the entire urinary system was absent.’
41, NUMBER
6
of Missouri-Columbia HSC N706 Columbia, Missouri 65212 (DR. O’CONNOR)
References 1. Oesch IL, Pinter A, and Ransley PG: Penile agenesis: a report of six cases, J Pediatr Surg 22: 172 (1987). 2. Kessler WD, and McLaughlin AP: Agenesis of the penis: embryology and management, Urology 1: 226 (1973). 3. Skoog SJ, and Belman AB: Aphallia: its classification and management, J Urol 141: 589 (1989). 4. Klauber GT, and Sant GR: Disorders of the male external genitalia, in Kelalis PP, King LR, and Belman AB (Eds): Clinical Pediatrics Urology, Philadelphia, WI3 Saunders, 1985, p 833. 5. Gilbert I, Clark RD, and Koyle MA: Penile agenesis: a fatal variation of an uncommon lesion; J Urol 143: 338<1990). 6. Richart R. and Benirschke K: Penile agenesis. Arch Path01 v 70: 252 (1960). ’ 7. Hailer JR, Schumaker LB, and Furness TD: Congenital absence of the penis: case report, J Urol 78: I55 (1957).
565
From the Divisions of Neonatology, Pediatrics, and Pathology, The Children’s Mercy Hospital, University of Missouri-Kansas City, Kansas City, Missouri ABSTRACT-Penile agenesis is a rare anomaly, with an estimated incidence of 1 in 30 million. Most cases are compatible with life but require early surgical intervention. This case is unusual in that there was an associated agenesis of the kidneys and urethra leading to fatal oligohydramnios sequence with pulmonary hypoplasia. Penile agenesis is a rare anomaly with only about 70 cases reported in the literature. The estimated incidence of this condition is about 1 in 10 to 30 million live births.1,2 In a recent review of the literature nearly 90 percent of 50 patients reviewed had a urethral opening, and only 6 had an associated absence of the urethra.3 To our knowledge, no patients have been described with penile and urethral agenesis associated with bilateral renal agenesis.
urethral meatus, or testes to be found (Fig. 1). A normal anus was present. A chest x-ray film revealed small lung volumes and a normal cardiac shadow. Despite medical intervention, the infant died of pulmonary hypoplasia at two hours of life. An autopsy was performed. Molding of the face and lower extremities and hypoplasia of
Case Report This infant was born at thirty-two weeks gestation to a twenty-eight-year-old woman (gravida 2, para 1) whose pregnancy had been complicated by limited prenatal care and oligohydramnios. Birth was by spontaneous vaginal delivery after presenting to the hospital in advanced preterm labor. Immediately on delivery respiratory insufficiency was noted marked by severe retractions, cyanosis, and bradycardia. The infant was intubated and required mechanical ventilation to maintain a normal heart rate. On physical examination the infant manifested characteristic features of oligohydramnios sequence, namely a flattened nose, small thoracic cavity, and deformities of the lower extremities. Examination of the perineum revealed a well-formed scrotum with no phallus,
564
FIGURE 1. Postmortem photograph scrotum and absence of penis.
UROLOGY
/ JUNE 1993
/ VOLUME
shows normal
41, NUMBER 6
the lungs were again noted. There was no penis or urethra. The urinary bladder was empty. Both ureters were present, although the right ureterovesical junction was not patent. No renal tissue was found grossly or microscopically, The right testis was in the retroperitoneum, and and the left testis was at the inner inguinal ring. The child also had a 3-mm ventricular septal defect and abnormal palmar creases bilaterally. Chromosome analysis revealed a normal 46, XY karyotype and no abnormalities at the 475 band level. There was no history of consanguinity and no family history of similar anomalies.
Department of Child Health
Comment
University
Penile agenesis is thought to occur due to a failure of development of the genital tubercle. In most cases the urethral opening is located either on the perineum between the scrotum and anus, or as a fistula to the gastrointestinal tract, typically to the rectuma These account for approximately 90 percent of cases and have a mortality rate of about 20 percent.3 When penile agenesis is associated with urethral agenesis, it is likely that diminished urine flow in fetal life leads to oligohydramnios and severe deformations. This is supported by two recently reported cases where penile agenesis with a urethral opening to the rectum was associated with imperforate anus. Both of these
UROLOGY
/
JUNE
1993
i
VOLUME
infants died of pulmonary hypoplasia with renal dysplasia. 5 Only 7 cases of penile agenesis have been described where an associated absence of the urethra was noted.1,3*6%7 All of those cases were fatal secondary to multiple anomalies in other systems or pulmonary hypoplasia. Unilateral renal agenesis has been described in association with penile and urethral agenesis Bilateral renal agenesis has not been described associated with penile and urethral agenesis except for one case in which the entire urinary system was absent.’
41, NUMBER
6
of Missouri-Columbia HSC N706 Columbia, Missouri 65212 (DR. O’CONNOR)
References 1. Oesch IL, Pinter A, and Ransley PG: Penile agenesis: a report of six cases, J Pediatr Surg 22: 172 (1987). 2. Kessler WD, and McLaughlin AP: Agenesis of the penis: embryology and management, Urology 1: 226 (1973). 3. Skoog SJ, and Belman AB: Aphallia: its classification and management, J Urol 141: 589 (1989). 4. Klauber GT, and Sant GR: Disorders of the male external genitalia, in Kelalis PP, King LR, and Belman AB (Eds): Clinical Pediatrics Urology, Philadelphia, WI3 Saunders, 1985, p 833. 5. Gilbert I, Clark RD, and Koyle MA: Penile agenesis: a fatal variation of an uncommon lesion; J Urol 143: 338<1990). 6. Richart R. and Benirschke K: Penile agenesis. Arch Path01 v 70: 252 (1960). ’ 7. Hailer JR, Schumaker LB, and Furness TD: Congenital absence of the penis: case report, J Urol 78: I55 (1957).
565