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Aphallia: A Case Report and Review of Literature

Ana Carolina Imada, Mila Torii Corrêa Leite, Camila Girardi Fachin, Renato Frota de Albuquerque Maranhão, Marcia Emilia Francisco Shida, José Luiz Martins

Department of Pediatric Surgery, Federal University of São Paulo, Brazil



Mila Torii Corrêa

Leite Rua Bagé, 230 113 C, Vila Mariana

São Paulo, Brazil, 04012140

Tel: (55)(11)55795709

Fax: (55)(11) 55717965

E-mail: This email address is being protected from spambots. You need JavaScript enabled to view it.


Aphallia is a rare anomaly of the male genitalia that usually presents with 46XY karyotype, a developed scrotum and testis but absence of the phallus. The gender assignment is challenging.We report two cases of aphallia treated in the Pediatric Surgery Department of the Federal University of São Paulo and a review of literature.

Keywords: aphallia, phalloplasty, feminizing genitoplasty



Penile agenesis or aphallia is a rare abnormality of the male genitalia. The incidence is estimated to be about 1in 10-30 millionbirths and there are about a hundred cases reported in the literature [1].This congenital malformation results from complete or partial developmental failure of the genital tuberclewhich occurs during the fourth week of embryonic development.

Aphallia usually presents with 46XY karyotype, a developed scrotum and testis but an absent phallus. The urethra commonly opens into the anal verge and may be associated with other anomalies. We report two cases of aphallia treated in the Pediatric Surgery Department of the Federal University of São Paulo and a review of literature.

Case reports

Case 1: A 20 days-old newborn with 46XY karyotype presents with an absent penis at the local examination, unilateral non-palpable testis, a developed scrotum and distal urethra openinginto the rectal wall (1 cm proximalfrom the anal verge). No other malformations were noticed (Fig. 1A).

Case 2: A 5 days-old newborn presents with a developed scrotum, non-palpable testis on the left side and absent phallus. The patient was voiding urine mixed with fecal material through the anal verge. Aphalliawas not suspectedon prenatal ultrasonography, so the parents expected a girl. The karyotype confirmed to be 46 XY(Fig. 1B).

Figure 1: A - Aphallia with developed scrotum (case 1); B - urethra opening into the rectal wall catheterized with urethral tube (case 2)

fig 7-1
Gender assignment was the therapeutic decision for Case 1. The child underwent surgery to reposition the urethra at the level of the perineum in the first month of life. Later on, orchidopexywas done by the age of1 year. After this, the child was lost for follow up.
All patients received antibiotic for prophylaxis until they underwent surgery. In both cases, a perineal access to the urethra and rectum was chosen. The urethra was dissected away from the anterior wall of the rectum and positioned in the perineumat the posterior edge of the scrotal folds. The parents were carefully counseled regarding the available therapeutic options and the limitations of each one. The decision about which surgical procedure should be performedhas been discussed with the parents and a multidisciplinary team.

In Case 2, the child underwent surgery in the first month of life to correct the position of the urethra and to create an incontinent vesicostomydue to bilateral vesicoureteral reflux. One year later, bilateral uretheralreimplantationand a Mitrofanoff procedure were done to allow clean intermittent catheterization.Gonadectomy was scheduled to beperformedin the same surgical sessionbut was delayed due to the indecisiveness of the family as to the designation of sex. One year later, the child was submitted to a feminizing genitoplasty, with good postoperative results. Some months later a stricture of the urethra was clinically diagnosed by the impossibility for urethral catheterizationwhich was confirmed on examination under narcosis. By the age of 4 years, the meatus of the urethra was found and repositioned in perineum, treating urethral stricture, inaddition to conducting retouching of the genitalia, decreasing the residual labial rigidity after the first surgery.


Aphallia is a rare malformation, with an incidence of 1 in 10-30 million newborns present at birth and only a hundred cases are described in the literature[1]. It results from development failure of the genital tubercle and incomplete separation of the urogenital sinus from the hindgut by the urorectal septum[1, 2]. The karyotype is normal (46 XY), there are no abnormalities in the development of the gonads or in the sexual hormone metabolism. Genitourinary anomalies such as cryptorchidism, renal agenesis and dysplasia, agenesis of the prostate and bladder, hydronephrosis, vesicoureteral reflux, rectovesical orrectourethral fistulae are usually associated [2].

The position of the urethral opening can varybeing located either into the perineum or in the anterior wall of the anorectal canal, as arecto-urethral fistula. The first step in management of these patients is to allow urine voiding urine by creating a vesicostomy or surgical repositioning the urethral opening into the perineum [3]. The designation of sex is the greatest challenge to be faced in patients with aphallia.

In the past, the only treatment available in these cases was gender reassignment, based on feminizing genitoplasty, associated with early bilateral orchiectomy by the age of 3 months to avoid exposure of the newborn to testosterone[4-6]. Later on, estrogen therapy was demanded during puberty to develop secondary sexual characters, beyond the need to conduct neovaginoplasty.

Different techniques have been described for penile reconstruction. However, these are complex surgeries involving skin flaps and microsurgical techniques (radial or ulnar free graft) which have high morbidity and complications such as fistula, dehiscence and infection [7-10]. Although eventually were able to give a reasonable aesthetic appearance to the penis these techniques do not allow the functional recovery of the organ. At puberty, new surgeries are requiredto insert a penile prosthesiswhich may allow a sexual life.

Because of the rarity of these cases, very few studies were done concerning the psychosocial development of patients with aphallia. Reiner [11] argues that prenatal androgen exposure increases the likelihood of recognition of male sexual identity independent of sex-of-rearing. Among patients with disorders of sexual differentiation (cloacal exstrophy, mixed gonadal dysgenesis, partial androgen insensitivity, aphallia and hermaphroditism) and a Y-chromosome who were reared female, 53% patients declared male identity in this study. Three cases of aphalia were included in the study. Among the 2 cases of aphallia who were reared female, the declaration of masculine identity occurred in 1 patient and the other refused to declare. The last case was reared male and declared male gender identity. This paper concludes that genetic males exposed to male-typical prenatal androgen effects have a high likelihood of declaring male sexual identity when reared as female[11,12].

Meyer-Bahlburg also presented 16 cases with penile agenesis which were assigned to the female gender at birth or re-assigned to female during early childhood. Twelve were still living as females, 2 with possible gender dysphoria and 2 as males[13]. He also believes that there is an increased risk of later gender change to male in patients with non-hormonal genital defects after female assignment but concludes that predictors of gender change remain unclear.

The gender choice for these infants is challenging and there are no reliable methods to evaluate what is the best attitude with these patients.The prospects of sexual functioning, reproductive capacity and quality of life should be considered in this decision.A multi-professional teamshould ensure that all information about surgical options to gender assignment or re-assignment will be explained to the family who will have the difficult role in the final decision.


The main challenge in the surgical treatment of aphallia, a very rare malformation, is the multidisciplinary decision of the sex of rearingand, if a male, to surgically reconstruct a functional penis.




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