WOFAPS 2025 8th World Congress of Pediatric Surgery

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Aphallia in a newborn: a rare case report and surgical approach

Joanna Rose Mathew, Dhruva Gosh, Vishal Michael, Pinki Pargal, Nurpur Bansal
Christian Medical College and Hospital, Ludhiana, India

INTRODUCTION

Aphallia is an extremely rare congenital anomaly, occurring in 1 in 10 to 30 million live births. Diagnosis includes absent penis, normal scrotum, palpable testes, normal testosterone levels and an XY karyotype. Management of this rare disorder has been controversial.

CASE PRESENTATION

A one-day-old male infant presented with congenital absence of the penis.

On physical examination, the patient was found to have bilaterally descended testes in the scrotal sac, absence of the penis, and was passing urine through the anus.

At five months of age, the child underwent an MRI, which confirmed the absence of the corpora cavernosa with a normal upper renal tract, bladder and urethral canal. The urethra was however found to be opening into the anterior wall of the rectum.

For social and cultural reasons, the child underwent Bianchi scrotal flap phalloplasty.The urethra was disconnected from the rectum and repositioned as a perineal urethrostomy at the same sitting. The future plan includes a two-stage buccal mucosa urethroplasty within the next six months to one year. If necessary, a radial forearm flap phalloplasty will be performed during adolescence.

CONCLUSION

Traditionally female sex reassignment used to be the norm however it has its own attendant endocrinological and psychological issues.

Recently, the approach has been shifted to not doing any gender reassignment or delaying it until the patient is old enough to understand their own gender identity and make informed decisions.

Staged phalloplasty is the recommended treatment in infancy as done in our patient. Scrotal flap phalloplasty is a minimally invasive, straightforward, and reproducible technique used to construct a temporary neophallus in prepubertal boys with aphallia, serving as a bridge until definitive reconstructive surgery can be performed after puberty.

In the global south social stigmas may prevent proper management and these children are lost to further follow up.

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