Male Gender Assignment of a Child with Aphallia and Associated Complex Urological Anomaly

Abstract

A 2-year-old male child presented to us with aphallia. At birth, he was passing urine from the anus and had undergone emergency colostomy and pyelostomy for urinary sepsis at 1 week of life. After a complete evaluation, the child underwent perineal urethrostomy and scrotal phalloplasty followed by buccal mucosal tube urethroplasty in the second stage, which was completed before the child started schooling.

INTRODUCTION

Aphallia affects 1 in 10–30 million male children. Nearly 100 cases have been reported so far. A female gender assignment is easy, but as they are genetically males, a male gender assignment is appropriate.

CASE REPORT

A 2-year-old child was referred with an absent phallus, well-developed scrotum, and normally descended testicles [Figure 1]. In neonatal period, the baby was passing urine from the anus and after 1 week developed sepsis and renal failure. A grossly pyonephrotic single kidney on the right side on ultrasound and computed tomography (CT) scan, prompted for an emergency pyelostomy and colostomy (done at another center). The baby recovered from sepsis but was lost to follow-up. When presented to our center at 2 years of age, the child was thriving well, phenotypically a boy (without a phallus) with a 46 XY karyotype and had no dysmorphic features. He had a well-functioning left iliac colostomy, and the pyelostomy was draining clear urine. The child was evaluated with a plan for phallic reconstruction along with closure of pyelostomy and colostomy before he reached school age. The renal parameters were within normal limits and renal tract ultrasound showed, a grossly hydronephrotic right kidney with thin cortex and an absent left kidney. A CT urogram and magnetic resonance urogram showed crossed fused ectopic kidney on the right side with grossly hydronephrotic lower unit (crossed kidney from left). The pyelostomy was draining the upper unit of fused kidney with normal parenchyma and showed that the ureters were normal. There was a suspicion of urethra draining into lower rectum. A single functioning kidney was imaged on Tc-99m dimercaptosuccinic acid (DMSA) scan on the right side, and a pyelostogram visualized a dilated pelvis with mildly dilated ureter draining into bladder. To further characterize the defect an examination under anesthesia, revealed a small fistula opening into anterior wall of lower rectum at its junction with anal canal which could not be cannulated. A cystogram done through a suprapubic puncture showed good sized bladder with bilateral grade 1 reflux and the proximal portion of urethra (1 cm) was imaged draining into rectum. The child was taken up for phalloplasty and exploration of fistula. A scrotal phalloplasty was performed [Figure 2] according to the technique described by Bajpai[1] with creation of perineal urethrostomy. The pyelostomy was formally closed after 6 months, and the non-functioning hydronephrotic kidney was left undisturbed. The child was thriving well with regular voiding and no leaks. At 3.5 years, a buccal musosal tube was created and inserted into the perineum and tunneled to exit at the tip of neophallus [Figure 2] with a view to connect the 2 ends at a later date. On exploration after 6 months, the buccal tube had shrunk in size causing tethering and lead to an apparent reduction in size of neophallus. The buccal tube was detethered from the tip to resort to reconstruction later. The colostomy was closed after 3 months. The child started schooling at 4 years, is continent and has been mingling with peers at school with no issues of gender discordance.

Figure 1.

A 2-year-old boy with absent penis. A pyelostomy and colostomy were done in neonatal period for urinary sepsis

Figure 2.

Steps of Scrotal phalloplasty (Bajpai technique). (a) The phalloplasty incision marked. (b) Phalloplasty completed. (c) View of perineal urethrostomy. (d) A tunneler (urethral dilator) is used to create a tunnel from just anterior to perineal urethrostomy, which would exit at tip of penis. A preformed buccal mucosal tube is drawn into this tunnel and anchored (Not shown in this figure)

DISCUSSION

The complete absence of penis affects 1 in 10–30 million population.[2] The scrotum is usually well developed, but testis may be undescended. The urethra opens at any point along perineal midline raphe, but most commonly opens on to anterior wall of anal verge. In our case, the urethra opened at the superior most part of anal column. Skoog and Belman,[3] classified aphallia based on the urethral opening in relation to anal sphincter as postsphincteric, presphincteric (prostatorectal fistula), and urethral atresia. On reviewing 60 reports of aphallia, they found that the more proximal the urethral meatus, the greater the likelihood of neonatal death and the higher the incidence of other anomalies. Sixty percent of patients had a postsphincteric meatus located on a peculiar appendage at the anal verge. This group had the highest survival rate (87%) and the lowest incidence of other anomalies (1.2/patient). Twenty-eight percent had presphincteric urethral communications (36% mortality), and 12% had urethral atresia and a vesicorectal fistula for drainage (100% mortality). Our case belonged to the first group along with crossed fused ectopic kidney. An alternative classification has been proposed by Fahmy.[2] The ectopic lower unit in the index case was grossly hydronephrotic with no function on DMSA scan. A high incidence of hydronephrosis has been described previously in renal fusion anomalies.[4] The management of aphallia is a challenge, and many have been assigned a female gender[5,6] which can possibly result in subsequent gender dysphoria.[2,7] Although the role of androgen imprinting prenatally and its long-term psychologic effects are difficult to analyze in a child, a male gender assignment seems to be appropriate. The sexual orientation of these children can only be defined when they reach an appropriate age when they are free to choose the appropriate surgical correction to suit their need. Scrotal phalloplasty as described by Bajpai,[1] gives excellent cosmetic result and in our index case, it looks essentially like a normal penis and alternative skin flap based phalloplasty[1,7,8] are also reported. As the neophallus lacks erectile tissue (Corpora), a penile prosthesis (inflatable) can be inserted at adolescence (at around 15 years of age). To accommodate the prosthesis, the neophallus may be enlarged using tissue expander before insertion.

CONCLUSION

A male gender assignment is appropriate for the rare boys born with aphallia. With the refinements in technology in medical and allied field growing rapidly, these children should have numerous options to choose from to suit their livelihood as they mature.

FINANCIAL SUPPORT AND SPONSORSHIP

Nil.

CONFLICTS OF INTEREST

There are no conflicts of interest.