Penile Agenesis: A Case Report
Author(s): Singh P, 1 Singh R.J., Sood V, Sapra A.
Vol. 49, No. 1 (2000-01 - 2000-06)
Department of Anatomy and 1 Surgery, Dayanand Medical College and Hospital, Ludhiana. Punjab INDIA.
Abstract:
A case of Penile agenesis with associated right renal and right ureteral agenesis, left ureterovesical reflux grade III, high rectourethral fistula and anal stenosis is being reported. Development of penis with factors influencing the develoment are discussed. A review of literature is given to discuss the anomalies which may be associated with apenia.
Keywords: Penile Agenesis, Aphallia, Apenia, Gender Assignment, anal stenosis, Renal agenesis.
Introduction
The embryonic development of penis starts very early and occurs in stage 15 to stage 17 embryo (33-41 days). In the third week of development mesenchyme cells originate in the region of primitive streak, migrate around cloacal membrane and form a pair of slightly elevated folds- the cloacal folds. Cranially these folds fuse to form the genital tubercle. Simultaneously another pair of elevations the genital swellings become visible on each side of cloacal folds. This constitutes the non specific stage in the development of external genitalia (Sadler 1990).
Further development is under the influence of androgens and is known as specific stage of development. There is :?
1. Rapid elongation of genital tubercles leading to formation of penis.
2. The penis in turn pulls the urethral folds forwards to form urethral groove which extends along the caudal aspect of penis but does not reach the glans. The epithelial lining of this groove forms urethral plate (Sadler 1990).
3. By the third month, the urethral folds close to form penile urethra. External urethral meatus is formed in fourth month by canalisation of down growth of ectodermal cells from tip of glans.
4. Genital swellings, initially in the inguinal region, move caudally and fuse in midline to form scrotum.
Penile agenesis is a rare congenital anomaly. It results either from absence or from failure of genital tubercles to develop. It may be associated with other genitourinary or non genitourinary anomalies.
Case Report
A two day old child presented in Dayanand Medical College with complete absence of penis. The child was a full term normal delivery. The mother was a twenty eight year old second gravida with an uneventful pregnancy. There was no family history of consanguinity or congenital anomalies.
Examination of the child showed that there was complete absence of penis. Scrotum was well developed, testis were bilaterally descended. There was associated anal stenosis corrected by anoplasty. Urine was collected in rectal pouch. Subsequent ultrasound and IVP revealed a normal left kidney and ureter with no visualisation on the right side. This was associated with left ureterovesical reflux and a high rectourethral fistula.
Plate 1:
Photograph of the patient showing penile agenesis (Lithotomy View)
Plate 2:
Photograph of Patient showing penile agenesis (Anterior View)
Plate 3: An IVP of the patient showing right renal and right ureteral agenesis
Discussion
Penile agenesis is a rare malformation ocurring once in thirty million births. Approximately seventy cases have been reported till date (Ciftci, 1995). Associated congenital anomalies involving genitourinary system and other organ systems are common. Approximately one third of patients die of associated anomalies with most deaths occurring within a few hours of birth (Soderdahl, 1972).
In their review of literature Kessler and McLaughlin (1973) found a 54% incidence of associated genitourinary anomalies. Non-genitourinary anomalies are also frequent. Table-I reviews the literature related to patients with Penile agenesis and associated anomalies.
The present case had associated right renal agenesis, right ureteral agenesis, left ureterovesical reflux, high rectourethral fistula and anal stenosis. Renal agenesis associated with penile agenesis has been reported by earlier workers (Soderdahl 1972, Antony & Chandrasekhara, 1972 & Ciftci, 1995). Other anomalies have also been reported in earlier cases of penile agenesis.
Penile agenesis results from failure of development of genital tubercles. The definitive urogenital sinus in such cases ends in the perineum without proliferating. Hence, it does not move anteriorly and cephalic to the ventral border of penis. The urethra therefore opens in the perineum, at or near the anal border.
To diagnose congenital absence of penis, the organ including the corpora cavernosa and spongiosa should be absent and urethra should open perineally or into the rectum (Campbell 1972). The possibility of pseudohermaphroditism and concealed penis should be eliminated. Pseudohermaphroditism is ruled out by presence of negative buccal smear, well developed scrotum and testis and absence of female sex organs. Concealed penis may be difficult to rule out except by careful examination and exploration (Hinman 1972). In our patient this had been ruled out and diagnosis is beyond doubt.
According to Sadler (1990), factors which affect the development of genitourinary system are :
1. Sertoli cells - These are the first to develop and produce a non-steroidal hormone called antimullerian hormone which causes regression of paramesonephric ducts. Recent studies indicate that sertoli cells also influence the size of testis and number of spermatozoa produced.
2. Leydig cells - produce testosterone which enters the cells of target tissues especially in urogenital sinus and genital swellings and is converted to 5 a Dihydrotestosterone which acts as a chemical inductor and leads to further development.
3. Cytoplasmic testosterone binding proteins - These bind 5 a dihydrotestosterone in the target cells. These may be missing in the region of genital tubercle leading to penile agenesis.
A detailed discussion concerning the management of penile agenesis is beyond the scope of this article. The reader is referred to an excellent review of this problem by Johnston, Yeatman and Weigel (1977). Earlier reports concerning the management of patients had advocated phalloplasty (Gillies 1948). The majority of authors, however recommend unequivocal assignment of female gender at birth (Soderdahl et al 1972, Kessler & Mc Laughlin 1973 and Jonston et al 1977).
Children with ambiguous genitalia of this type may be managed more easily as females. Early assignment of gender avoids confusion and contradiction. Parental confidence solidifies the child's own confidence in gender.
Name of the Author
Associated Anomaly
Soderdahl (1972)
Left Renal Agenesis, Abonormal Karyotype
Soderdahl (1972)
Left renal Malrotation, Biolateral Talipes Equino-varus, Abnormal Karyotype
Antomy & Chandrasekhara (1973)
Left Renal Agensis
Gautier et al (1981)
Spina Bifida
Roth et al (1981)
Horse Shoe Kidney, Hydronephrosis, Megacolon, Simian Crease.
Ciftci (1995)
Left Renal Agenesis, Cryptorchidism
Kaefer & Adams (1997)
Bladder Agenesis
Hendren (1997)
Hydronephrosis, Vesicourethral Reflux
Present Case
Right Renal Agensisi, Right Ureteral Agenesis, High (Rectourethral) Fistula, Anal Stenosis
References
- Antony, J. and Chandrasekhara, M.K. (1973): Penile Agenesis, Journal of Surgery 58: 650-672.
- Campbell, M.F.: Urology In : Anomalies of Genital Tract 3rd ed. WB Saunders Company Philadelphia: pp. 1573-75 (1970).
- Berry, M., Bannister, L.H., Collins, P : Embryology, In: Gray's Anatomy (Ed. P.L. Williams), 38th edition, Churchill Livingstone Edingburgh. pp. 215-216. (1995).
- Ciftci, A.O., Snocak, M.E., Buyukpamukcu, N. (1995): Male Gender Assignment in Penile Agenesis : A Case Report and Review of Literature.Journal of Paediatric Surgery 30: 1358-1360.
- Gautier, T. Salient, J. Pena, S. et al (1981): Testicular Function in Two Cases of Penile Agenesis, Journal of Urology 126: 556-57.
- Gillkies, H. (1948) : Congenital Absence of Penis. British Journal of Plastic Surgery 1: 8-28.
- Hendren, W.H. (1997) : The Genetic Male with Absent Penis and Urethrorectal Communication : Experience with Five Patients.Journal of Urology 157: 1469-1474.
- Hinman, F Jr. (1972) : Microphallus : Character and Choice of Treatment from a Study of Twenty Cases.Journal of Urology 107: 499-501.
- Johnston, W.G., Yeatman, G.W., Weigel, J.W., (1977): Congenital Absence of Penis. Journal of Urology 117: 508-512.
- Kaefer, M., Adams, M.C., (1997): Penis and Bladder Agenesis in a Living Male Neonate.Journal of Urology 157(4): 1439-1440.
- Kessler, W.O., Mc Laughlin, A.P. (1973): Agenesis of Penis, Embryology and Management. Urology 1: 226-229.
- Roth, J.K., Marshall, R.H., Angel, J.R., Daftry, M., Lewis, R.W. (1981): Congenital Absence of Penis. Urology 17(6): 579-583.
- Sadler, T.W. In: Langman's Medical Embryology. In: Urogenital System 7th ed., (ed. J.N. Gardner) Williams & Wilkins Baltimore pp.298-300 (1990).
- Soderdahl, D.W. Brosman, S.A. Goodwin, W.E. (1972): Penile Agenesis. Journal of Urology, 108: pp.496-498
J Anat. Soc. India 49(1) 58-59 (2000)
Department of Anatomy and 1 Surgery, Dayanand Medical College and Hospital, Ludhiana. Punjab INDIA.
Abstract:
A case of Penile agenesis with associated right renal and right ureteral agenesis, left ureterovesical reflux grade III, high rectourethral fistula and anal stenosis is being reported. Development of penis with factors influencing the develoment are discussed. A review of literature is given to discuss the anomalies which may be associated with apenia.
Keywords: Penile Agenesis, Aphallia, Apenia, Gender Assignment, anal stenosis, Renal agenesis.
Introduction
The embryonic development of penis starts very early and occurs in stage 15 to stage 17 embryo (33-41 days). In the third week of development mesenchyme cells originate in the region of primitive streak, migrate around cloacal membrane and form a pair of slightly elevated folds- the cloacal folds. Cranially these folds fuse to form the genital tubercle. Simultaneously another pair of elevations the genital swellings become visible on each side of cloacal folds. This constitutes the non specific stage in the development of external genitalia (Sadler 1990).
Further development is under the influence of androgens and is known as specific stage of development. There is :?
1. Rapid elongation of genital tubercles leading to formation of penis.
2. The penis in turn pulls the urethral folds forwards to form urethral groove which extends along the caudal aspect of penis but does not reach the glans. The epithelial lining of this groove forms urethral plate (Sadler 1990).
3. By the third month, the urethral folds close to form penile urethra. External urethral meatus is formed in fourth month by canalisation of down growth of ectodermal cells from tip of glans.
4. Genital swellings, initially in the inguinal region, move caudally and fuse in midline to form scrotum.
Penile agenesis is a rare congenital anomaly. It results either from absence or from failure of genital tubercles to develop. It may be associated with other genitourinary or non genitourinary anomalies.
Case Report
A two day old child presented in Dayanand Medical College with complete absence of penis. The child was a full term normal delivery. The mother was a twenty eight year old second gravida with an uneventful pregnancy. There was no family history of consanguinity or congenital anomalies.
Examination of the child showed that there was complete absence of penis. Scrotum was well developed, testis were bilaterally descended. There was associated anal stenosis corrected by anoplasty. Urine was collected in rectal pouch. Subsequent ultrasound and IVP revealed a normal left kidney and ureter with no visualisation on the right side. This was associated with left ureterovesical reflux and a high rectourethral fistula.
Plate 1:
Photograph of the patient showing penile agenesis (Lithotomy View)
Plate 2: Photograph of Patient showing penile agenesis (Anterior View) |
Plate 3: An IVP of the patient showing right renal and right ureteral agenesis |
Discussion
Penile agenesis is a rare malformation ocurring once in thirty million births. Approximately seventy cases have been reported till date (Ciftci, 1995). Associated congenital anomalies involving genitourinary system and other organ systems are common. Approximately one third of patients die of associated anomalies with most deaths occurring within a few hours of birth (Soderdahl, 1972).
In their review of literature Kessler and McLaughlin (1973) found a 54% incidence of associated genitourinary anomalies. Non-genitourinary anomalies are also frequent. Table-I reviews the literature related to patients with Penile agenesis and associated anomalies.
The present case had associated right renal agenesis, right ureteral agenesis, left ureterovesical reflux, high rectourethral fistula and anal stenosis. Renal agenesis associated with penile agenesis has been reported by earlier workers (Soderdahl 1972, Antony & Chandrasekhara, 1972 & Ciftci, 1995). Other anomalies have also been reported in earlier cases of penile agenesis.
Penile agenesis results from failure of development of genital tubercles. The definitive urogenital sinus in such cases ends in the perineum without proliferating. Hence, it does not move anteriorly and cephalic to the ventral border of penis. The urethra therefore opens in the perineum, at or near the anal border.
To diagnose congenital absence of penis, the organ including the corpora cavernosa and spongiosa should be absent and urethra should open perineally or into the rectum (Campbell 1972). The possibility of pseudohermaphroditism and concealed penis should be eliminated. Pseudohermaphroditism is ruled out by presence of negative buccal smear, well developed scrotum and testis and absence of female sex organs. Concealed penis may be difficult to rule out except by careful examination and exploration (Hinman 1972). In our patient this had been ruled out and diagnosis is beyond doubt.
According to Sadler (1990), factors which affect the development of genitourinary system are :
1. Sertoli cells - These are the first to develop and produce a non-steroidal hormone called antimullerian hormone which causes regression of paramesonephric ducts. Recent studies indicate that sertoli cells also influence the size of testis and number of spermatozoa produced.
2. Leydig cells - produce testosterone which enters the cells of target tissues especially in urogenital sinus and genital swellings and is converted to 5 a Dihydrotestosterone which acts as a chemical inductor and leads to further development.
3. Cytoplasmic testosterone binding proteins - These bind 5 a dihydrotestosterone in the target cells. These may be missing in the region of genital tubercle leading to penile agenesis.
A detailed discussion concerning the management of penile agenesis is beyond the scope of this article. The reader is referred to an excellent review of this problem by Johnston, Yeatman and Weigel (1977). Earlier reports concerning the management of patients had advocated phalloplasty (Gillies 1948). The majority of authors, however recommend unequivocal assignment of female gender at birth (Soderdahl et al 1972, Kessler & Mc Laughlin 1973 and Jonston et al 1977).
Children with ambiguous genitalia of this type may be managed more easily as females. Early assignment of gender avoids confusion and contradiction. Parental confidence solidifies the child's own confidence in gender.
| Name of the Author | Associated Anomaly |
| Soderdahl (1972) | Left Renal Agenesis, Abonormal Karyotype |
| Soderdahl (1972) | Left renal Malrotation, Biolateral Talipes Equino-varus, Abnormal Karyotype |
| Antomy & Chandrasekhara (1973) | Left Renal Agensis |
| Gautier et al (1981) | Spina Bifida |
| Roth et al (1981) | Horse Shoe Kidney, Hydronephrosis, Megacolon, Simian Crease. |
| Ciftci (1995) | Left Renal Agenesis, Cryptorchidism |
| Kaefer & Adams (1997) | Bladder Agenesis |
| Hendren (1997) | Hydronephrosis, Vesicourethral Reflux |
| Present Case | Right Renal Agensisi, Right Ureteral Agenesis, High (Rectourethral) Fistula, Anal Stenosis |
References
- Antony, J. and Chandrasekhara, M.K. (1973): Penile Agenesis, Journal of Surgery 58: 650-672.
- Campbell, M.F.: Urology In : Anomalies of Genital Tract 3rd ed. WB Saunders Company Philadelphia: pp. 1573-75 (1970).
- Berry, M., Bannister, L.H., Collins, P : Embryology, In: Gray's Anatomy (Ed. P.L. Williams), 38th edition, Churchill Livingstone Edingburgh. pp. 215-216. (1995).
- Ciftci, A.O., Snocak, M.E., Buyukpamukcu, N. (1995): Male Gender Assignment in Penile Agenesis : A Case Report and Review of Literature.Journal of Paediatric Surgery 30: 1358-1360.
- Gautier, T. Salient, J. Pena, S. et al (1981): Testicular Function in Two Cases of Penile Agenesis, Journal of Urology 126: 556-57.
- Gillkies, H. (1948) : Congenital Absence of Penis. British Journal of Plastic Surgery 1: 8-28.
- Hendren, W.H. (1997) : The Genetic Male with Absent Penis and Urethrorectal Communication : Experience with Five Patients.Journal of Urology 157: 1469-1474.
- Hinman, F Jr. (1972) : Microphallus : Character and Choice of Treatment from a Study of Twenty Cases.Journal of Urology 107: 499-501.
- Johnston, W.G., Yeatman, G.W., Weigel, J.W., (1977): Congenital Absence of Penis. Journal of Urology 117: 508-512.
- Kaefer, M., Adams, M.C., (1997): Penis and Bladder Agenesis in a Living Male Neonate.Journal of Urology 157(4): 1439-1440.
- Kessler, W.O., Mc Laughlin, A.P. (1973): Agenesis of Penis, Embryology and Management. Urology 1: 226-229.
- Roth, J.K., Marshall, R.H., Angel, J.R., Daftry, M., Lewis, R.W. (1981): Congenital Absence of Penis. Urology 17(6): 579-583.
- Sadler, T.W. In: Langman's Medical Embryology. In: Urogenital System 7th ed., (ed. J.N. Gardner) Williams & Wilkins Baltimore pp.298-300 (1990).
- Soderdahl, D.W. Brosman, S.A. Goodwin, W.E. (1972): Penile Agenesis. Journal of Urology, 108: pp.496-498
J Anat. Soc. India 49(1) 58-59 (2000)