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| Year : 2008 | Volume
: 19
| Issue : 3 | Page : 435-438 |
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| Aphallia associated with Urethro-Rectal Fistula and Stones in the Bladder and Urethra |
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A Shamsa, AM Kajbafzadeh, SM Javad Parizadeh, M Asl Zare, M Abolbashari
Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran
Click here for correspondence address and email
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 Abstract | | |
Aphallia is a rare urogenital anomaly. It usually coexists with other serious anomalies, which are incompatible with normal life. We present herewith a 18-month-old child who presented with aphallia and urethro-scrotal fistula along with stones in the bladder and urethra. The stones were removed and the fistula was surgically corrected. Keywords: Aphallia, Congenital urethro-rectal fistula, Bladder stones, Urethral stones
How to cite this article:
Shamsa A, Kajbafzadeh A M, Javad Parizadeh S M, Zare M A, Abolbashari M. Aphallia associated with Urethro-Rectal Fistula and Stones in the Bladder and Urethra. Saudi J Kidney Dis Transpl 2008;19:435-8 |
How to cite this URL:
Shamsa A, Kajbafzadeh A M, Javad Parizadeh S M, Zare M A, Abolbashari M. Aphallia associated with Urethro-Rectal Fistula and Stones in the Bladder and Urethra. Saudi J Kidney Dis Transpl [serial online] 2008 [cited 2013 May 21];19:435-8. Available from: http://www.sjkdt.org/text.asp?2008/19/3/435/40506 |
| Introduction | |  |
Aphallia is a rare urogenital anomaly. It usually coexists with other serious anomalies such as cardiovascular anomalies, which are incompatible with normal life; such infants are delivered stillbirth, or live for a short period of time. We present herewith an 18months-old boy with aphallia associated with congenital urethro-rectal fistula, bladder and urethral stones.
| Case Report | | |
An 18-month-old child was referred to the urology clinic of our institution for gender assignment. The child's parents were first cousins. The child was the first baby of this family and was delivered in the eight month of gestation by cesarean section; the birth weight was 2.5 kg. There was no history of such anomaly in the parents' families. The child's mother was a young normal lady with no history of use of any drugs or exposure to x-ray during pregnancy.
On physical examination, the child looked normally developed and examination of the heart, lungs, abdomen, head and neck were all normal. The child's phallus was absent, the scrotum was normal with two normally descended testes with palpable vas deferens. The penis was absent and there was no voiding per urethra. The voided urine was mixed with fecal material. On the seventeenth day of age he had undergone open cystostomy at the district hospital. The suprapubic catheter had been changed every two weeks; however, he was still passing most part of the urine from the rectum. Urine analysis and culture confirmed asymptomatic bacteriuria. His blood biochemistry and routine hematologic tests were normal.
Renal ultrasonography, plain x-ray of the abdomen, intravenous pyelogram, chest xray, wrist x-ray and antegrade cystography were normal except for the presence of three large bladder and three small urethral stones on plain x-ray [Figure - 1]A. Interavenous pyelogram confirmed reflux of contrast media from his urethra to the descending colon and rectum. His genotype was 46XY.
In the first part of his management, all bladder and urethral stones were disintegrated and aspirated through the cystostomy tract, by Swiss lithoclast and Elixs evacuator. Stone composition was calcium phosphate and culture of stone fragments showed Klelbsiella pneumoniae and Proteus mirabilis. Antegrade urethoscopy confirmed normally located verumontanum. The urethra had an opening into the rectum about 2.5-3 cm distal to the bladder neck. A retrograde urethrocystoscopy confirmed the presence of a urethro-rectal fistula [Figure - 1]B.
Following the stone clearance, the patient underwent closure of the fistula under general anesthesia. Using the perineal approach, the urethra was exposed and divided from the urethro-rectal junction. The rectum was closed with two layers using running 3-0 vicryl and separate 3-0 silk sutures respectively. The urethra was then dissected free from its underlying connective tissue up nearly to the bladder neck to establish a perineal urethrostomy. A cystography showed complete closure of urethro-rectal fistula. He was discharged home without catheter with urinary continence.
His family was highly reluctant to raise the child as a boy. He needs an ulnar forearm free flap for total phallic reconstruction and urethroplasty after attaining puberty.
| Discussion | | |
Penile agenesis is an extremely uncommon congenital anomaly with a reported incidence of 1/10 to 1/30 million births. [1] It should be differentiated from severe hypospadias, severe epispadias, intrauterine penile amputation, pseudohermaphroditism, concealed penis and micropenis. [2] It is embryologically caused by maldevelopment of genital tubercle. In one reported case, the mother had uncontrolled diabetes mellitus and two other cases had abnormal karyotype. However, less than 100 cases of aphallia have been reported so far. This anomaly usually coexists with other anomalies, which are incompatible with normal life such as bladder and renal agenesis. Associated genitourinary anomalies are seen in up to 54% of the patients. [4] The various genitourinary and non genitourinary anomalies associated with congenital aphallia are shown in [Table - 1],[Table - 2]. [3] Our patient case had none of these associated anomalies.
In most cases, aphallia is associated with communication of the urinary tract and rectum, which can be at the anal verge or higher as presented in this case. Skoog and Belman proposed a classification system for penile agenesis where it has been emphasized that the position of the urethral opening has a bearing on the prognosis. A more proximal urethral opening results in a greater number of associated anomalies and higher mortality. [5]
Despite recent advances in total penile reconstruction, the recommended surgical treatment for patients with aphallia is early sex assignment to the female gender. Bilateral orchidectomy is advocated in the first few days of life to avoid further androgen exposure. Vaginoplasty and estrogen therapy is advocated in adulthood for breast development and other female sexual characteristics. Some authors perform a single stage reconstruction as a salvage procedure. Separation of the urinary and fecal streams must be achieved at an early stage
Lastly, the idea of raising the child as a boy is a major challenge; our patient remained a boy as per the preference of the parents as well as the prevailing socioeconomic conditions. There is a possibility of using the ulnar forearm free flap for vascularised total phallic reconstruction after puberty. We expect, with the advances that have occurred in in-vitro fertilization, that it may be possible for these patients to have a child.
| References | | |
| 1. | Hendren WH. The genetic male with absent penis and urethrorectal communication: Experience with 5 patients. J Urol 1997; 157():1469-74.  [PUBMED] [FULLTEXT] |
| 2. | Soderdahl DW, Brosman SA. Goodwin WE. Penile agenesis. J Urol 1972;108(3):496-9. |
| 3. | Johnston WG Jr, Yeatman GW, Weigel JW. Congenital absence of the penis. J Urol 1977;117(4):508-12. |
| 4. | Kessler WO, McLaughlin AP 3 rd . Agenesis of penis: Embryology and management. Urology 1973;1(3):226. |
| 5. | Skoog S, Belman AB. Aphallia: Its classification and management. J Urol 1989;141 (3):589-92. |
Correspondence Address:
A Shamsa
Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad
Iran
PMID: 18445906
[Figure - 1]
[Table - 1], [Table - 2] |
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