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CASE REPORT Table of Contents   
Year : 2011  |  Volume : 8  |  Issue : 3  |  Page : 324-325
Aphallia: A case report and literature review

Department of Paediatrics Surgery, Aristide Le Dantec hospital, Dakar, Senegal

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Date of Web Publication11-Jan-2012


Aphallia is a complex urogenital malformation. It is rarely described in literature. Treatment calls upon feminising genitoplasty in most cases. Authors describe a case in a neonate, insisting on the sociocultural realities which guided their indications.

Keywords: Aphallia, phalloplasty, transposition

How to cite this article:
Kane A D, Ngom G, Ndour O, Alumeti D M. Aphallia: A case report and literature review. Afr J Paediatr Surg 2011;8:324-5

How to cite this URL:
Kane A D, Ngom G, Ndour O, Alumeti D M. Aphallia: A case report and literature review. Afr J Paediatr Surg [serial online] 2011 [cited 2020 Apr 9];8:324-5. Available from:

   Introduction Top

Aphallia is a congenital malformation with dramatic psychological consequences.

About a hundred cases are reported in world literature. [1] Aphallia is an anomaly which occurs during the fourth week of embryonic development, which accounts for its frequent association with related malformations. It is related to result from the non-formation of the genital tubercle or its failure to develop. Its diagnostic is easy at birth, as there is an absence of penis. However, some cases were diagnosed late. [2] Treatment generally performed is feminising genitoplasty or in very few cases, phalloplasty. We are hereby reporting a case of aphallia which affected a neonate whose parents have decided to keep the male sex. This is the third case of aphallia described in Africa, after the two cases reported by Deschamps et al. [3] We insist on the sociocultural realities which guided our indication.

   Case Report Top

A neonate referred from a health centre 8 hours after birth due to an absence of penis. The pregnancy that led to his birth was at term. The child's mother has never had prenatal visit or undergone obstetrical echography.

Clinical examination showed a good general state, an absence of penis [Figure 1] and urinary meatus. Palpation revealed the presence of the gonad inside the scrotum. The anus was in normal position, permeable, with the presence of meconium mixed with urine.
Figure 1: Absence of penis

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Direct cystourethrogram showed a lower-end urethrorectal fistula and a grade III right vesicorenal reflux. The other imaging investigations (standard abdomen X-ray, abdomen and heart echography and the CT scan) were normal. Full blood count, blood ionogram, hepatic and renal state were normal. Cytobacterial examination of the urine was normal. The neonate was masculine, 46 karyotype, XY. Cystostomy was performed 4 days after birth followed by anterior transposition of the urethra at the 10 th month [Figure 2].
Figure 2: Anterior transposition of the urethra

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He presented an evisceration at day 15 post-operatively, which was successfully repaired. At the age of 1 and a half years, the cosmetic aspect of the perineum was satisfactory with a well-anchored urethra at the level of the median raphe and the anus was at its normal position. The renal function was normal and no urinary infection was detected. However, the vesicorenal reflux persisted. It was planned that the child would undergo phalloplasty at the age of puberty because his parents decided to keep the male sex.

   Discussion Top

The birth of a child affected by aphallia puts parents in a highly delicate situation. It is the responsibility of the medical doctor to reassure them by proposing therapeutic options, that is, feminising genitoplasty and phalloplasty. When diagnosed early, feminising genitoplasty is often suggested, supplemented by bilateral orchiectomy before the age of 3 months and an oestrogen-therapy at the age of puberty, [4] along with psychological monitoring. When diagnostic is late, phalloplasty is recommended to minimise psychological trauma for both the child and parents. [2] The ultimate choice rests however upon the parents.

In Senegal, parents prefer to have boys rather than girls, even when the boy presents a complex genitourinary malformation. Consistent with that attitude, the parents of our neonate have decided to keep the male sex. That is why we have performed cystostomy first, followed by transposition of the urethra while waiting for the phalloplasty, which will be performed at the age of puberty.

As regards the two therapeutic methods, feminising genitoplasty is easier to perform than phalloplasty, which calls for a multidisciplinary team and presents in addition some disadvantages, such as functional and aesthetic sequelae and intolerance of the transplant. [2],[5],[6]

   References Top

1.Gupta A, Gupta M. Aphallia. A rare congenital anomaly. JK Science 2008;10:142-3.  Back to cited text no. 1
2.Chibber PJ, Shah HN, Jain P, Yadav P. Male gender assignment in aphallia: A case report and review of the literature. Int Urol Nephrol 2005;37:317-9.  Back to cited text no. 2
3.Descamps MJ, Hayes PM, Hudson DA. Phalloplasty in complete aphallia: Pedicled anterolateral thigh flap. J Plast Reconstr Aesthet Surg 2009;62:51-4.  Back to cited text no. 3
4.Glüer S, Fuchs J, Mildenberger H. Diagnosis and current management of penile agenesis. J Pediatr Surg 1998;33:628-31.  Back to cited text no. 4
5.Ciftci OA, Senocak EM, Büyükpamukcu N. Male gender assignment in penile agenesis: A case report and review of the literature. J Pediatr Surg 1995;30:1358-60.  Back to cited text no. 5
6.De Castro R, Merlini E, Rigamonti W, Macedo A. Phalloplasty and urethroplasty in children with penile agenesis: Preliminary report. J Urol 2007;177:1112-7.  Back to cited text no. 6

Correspondence Address:
G Ngom
BP: 6863 Dakar, Etoile
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0189-6725.91675

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