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Aphallia associated to urethrorectal fistula: a case report

Article in Pediatric Surgery: Official Organ of the Spanish Society of Pediatric Surgery · July 2012    
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Aphalia associated with recto-urethral fistula: report of a case
VOL. 25 No. 3, 2012
R BSTRACT
Aphalia has an incidence of 1 / 30,000,000 newborns
alive. It is a rare genitourinary anomaly derived from a failure in the
development of the genital tubercle. Generally, this anomaly coexists
with other malformations incompatible with life. This article presents
felt the management of a two-year-old patient.
P ALABRAS C LAVE : aphallia; Recto-urethral fistula.
A PHALLIA ASSOCIATED TO URETHRORECTAL FISTULA : A CASE REPORT
TO BSTRACT
Aphallia had an incidence of 1 / 30,000,000 newborn. This is a rare
genitourinary anomaly derived from a faulty development of the genital
tubercles. It usually coexists with series of other anomalies which are
incompatible with normal life. This article presents a description of a
2 years old patient.
K EY W ORDS : Aphallia; Urethra-rectal fistula.
Introduction
Aphalia is a rare abnormality that occurs in 1 in 10
o 30 million live births (1,2) . This fault is presented by
the absence or failure of the genital tubercle to develop. I know
associated with other digestive, cardiac (1) and genito-
urinary (2) . Penis amputation may be due to the
presence of amniotic bands in gestational stage (2,3) . We
We present a case with a bibliographic review.
REPORT OF A CASE
Two-year-old male. As background, the parents
are over 40 years of age and report chronic exposure to
unidentified toxic agricultural products. To the exam
physical absence of phallus and urethra; Nevertheless
, the testes were found in the scrotum (Fig. 1). It was observed
that the patient voids spontaneously through the rectum without
coincide with the defecatory habit, that is, it has a
urinary continence with preservation of the external sphincter
(Fig. 2A). 46XY karyotype. The surgical treatment consisted
in separating the urethra from the rectum (Fig. 2B), taking it towards the
anterior perineal area to design a perineal hypospadia
(Fig. 2C). The findings were: prostate, urethra
that empties 3 cm from the anal margin on the anterior face. Do not
Cavernous or spongy bodies were found.
At the moment, our patient has sphincter continence.
waiting for a surgical time to correct the
position of the urethra.
Discussion
Usually, the development of the genital tubercle occurs
at the fourth week of gestation. This process can be in-
interrupted by a failure in the development of the penis due to causes
multifactorial. In 1853, Imnger reported the first case of
aphalia and so far about 100
cases in the world (3,4) .
Urologic abnormalities are associated with aphalia in the
54% of cases, being the following: renal agenesis, dysplasia
renal sia, prostate agenesis, hydronephrosis, vesicular reflux
reteral and recto-vesical fistula (3-5) . While the anomalies
extraurological are around 0.02% (5.6) .
We report the case of a patient with aphalia associated with
related to urethro-rectal fistula. According to Skoog's classification
and Belman (4) , the position of the urethra may be presphincteric
or postsphincteric with urethral atresia. If it is pre-sphincteric,
Aphalia is associated with increased morbidity and other abnormalities (3-5) .
C ASO
C L Í NICO

Aphalia associated with a recto-urethral

fistula:
case report
JA García Andrade 1,2 , JE Arboleda Bustán 3 , LA Vaca Falconí 4 , MJ Flores Núñez 4 , JI Ramírez Rivera 3
1  Head of the Urology Service, Baca Ortiz Children's Hospital, Quito-Ecuador.  2  treating person of the Pediatric Surgery and Urology Service,
Metropolitan Hospital, Quito-Ecuador.  3 resident of Postgraduate Pediatric Surgery at the International University of Ecuador.
4  treating person at the Urology Service, Baca Ortiz Children's Hospital, Quito-Ecuador.

Cir Pediatr 2012; 25: 169-171

Correspondence: Dr. Jorge Isaac Ramírez Rivera. Baca Children's Hospital
Ortiz. Urology Service. Av. 6 de Diciembre s / n. Quito, Ecuador.
E-mail: isaac_ramirezrivera@hotmail.com
Presented at the 45th Argentine Congress of Child Surgery. Punta del Este,
Uruguay, November 15-18, 2011.
received: November 2011
accepted: May 2012

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170
JI Ramírez Rivera et al.
PEDIATRIC SURGERY
The differential diagnosis of aphalia can be with the penis
rudimentary, micropenis, epispadias, hypospadias, amputation
of the penis by amniotic bands of the same and disorders of the
sexual development (4) .
The treatment of aphalia has undergone many changes.
bios in recent years, initially tending towards femininity
phenotypic zation (5,6) . In 1900 the change to sex was described
female with orchidectomy in the neonatal period to
then make a vagina (5,6) . These patients presented
serious psychosocial disorders upon reaching adolescence (7,8) .
As such, in 2007 De Castro et al. (9) advocate that
sex is assigned according to the karyotype and that the production
hormonal would prevent gender disorders when out
necessary to apply it (10,11) . In addition, the intervention should be
early and phalloplasty should be performed with flaps in the
puberty (7-9) .
Our multidisciplinary team (12) discussed the case with the
parents, who, given the genetic evidence, agreed
preserve the male phenotype. Therefore, we proceeded with
the planned surgery, that is, developing a perineal hypospadias
in order to make urination more anatomical
(ventral). The intention for the future is to rebuild with mucosa
oral the urethra and correct this manufactured perineal hypospadias.
We consider this neourethra to reach the upper area
scrotum so that the patient can urinate towards the
front and later be able to create a penis with dermal grafts
or musculocutaneous proposed by several authors (9-13-15) . The
tissue engineering is an idea that is still in the
experimentation and that it could be very useful in these patients.
CONCLUSIONS
Aphalia is a rare urological malformation that can
have devastating psychological consequences and a prognosis
quite reserved. Treatment is still controversial. The
karyotype is who defines the phenotypic sex to plan
Surgery.
Bibliography
1. Hendren WH. The genetic male with absent panis and urethrorec-
such communication: Experience with 5 patient. J Urol. 1997; 157:
1469-74.
2. Soderdahl DW, Brosman SA, Goodwing WE. Penile agenenesis. J
Urol. 1972; 108: 496-9.
3. Johnston WG Jr, Yeatman GW, Weigel JW. Congenital absence of
the penis. J Urol. 1977; 117: 508-12.
Figure 1. 2-year-old boy with aphalia,
presence of testicles in the scrotum.
TO
TO
B
B
C
Figure 2. A) Anal region (r); spontaneous diuresis (arrow) is observed without accompanying stool. B) Posterior sagittal approach; it is achieved
identify the urethra ( u ). C) Immediate postoperative period with differentiation of the anal area ( r ) and urethra ( u ) in the hypospadic position.

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Aphalia associated with recto-urethral fistula: report of a case
VOL. 25 No. 3, 2012
4. Kessler WO, McLaughlin AP 3rd. Agenesis of penis: Embriology
and management. Urology. 1973; 1: 226.
5. Skoog S, Belman AB. Aphalia; its classification and management.
J Urol. 1989; 141: 589-92.
6. Shamsa AS. Aphalia associated with urethra-rectal fistula ad stone
in the bladder and urethra. Saudi J. Kidney Dis Transpl. 2008; 19:
435-8.
7. Selvaggi G, Elander A. Penile reconstruction / formation. Curr Opin
Urol. 2008; 18: 589-97.
8. Chibber PJ, Shah HN, Jain P, et al. Male gender assignment in
aphallia; a case report and review of the literature. Int Urol Nephrol.
2005; 37: 317-9.
9. De Castro R, Merlini E, Rigamonti W, Macedo A Jr. Phalloplasty
and urethroplasty in children with penile agenesis: preliminary re
port. J Urol. 2007; 177: 1112-6; discussion 1117.
10. Sengezer M, Ozturk, Device M, et al. Long follow-up total
penile reconstruction with sensible osteocutaneous freeeficula
flap in 18 biologic male patient. Plast Reconstr Surg. 2004; 114;
439-50.
11. Rattan KN, Kajal P, Pathak M, Kadian YS, Gupta R. Aphallia:
experience with 3 cases. J Pediatric Surg. 2010; 45: E13-6.
12. García Andrade J, Arboleda J, Flores M, Vaca A, Cáceres F, Ramírez
J. Aphalia associated with urethro-rectal fistula: a case report. Paper
Presented to the SIUP group in the Cipesur congress Nov. 2011,
Punta del Este-Uruguay.
13. Stoler CJH, Wiener ES, Hensle TW, et al. Reconstruction of penile
agenesis by a posterior sagittal approach, J Pediatric Surg. 1987;
22: 1076.
14. Hendren WH. The genetic male with absenst penis and urethorec-
such communication; experience with 5 patients. J Urol. 1997; 157:
1469-7.
15. Peronic S, et al. Musculocutaneous latissimus dorsi free transfer
phalloplasty in childrens and adolescents. ESPU Meeting 2007,
No. S04-5 (0).
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