Abstract

Congenital absence of penis is a very rare congenital anomaly occurring once in 30 million births. Author report his experience with one such case.

Citation: Kumar M, Luthra M. Congenital absence of penis (Aphallia) – A rare occurrence. J Clin Images Med Case Rep. 2021; 2(3): 1132.

Clinical image description

Aphallia is an extremely rare genitourinary anomaly occuring once in 30 million births [1]. Fewer than 100 cases have been reported worldwide till now [1]. It results from non-formation of genital tubercle or its failure to develop during the 4th week of embryonic development. We report a case of 5 year old child, resident of Iraq, born through a non consanguineous marriage. There is no family history of any congenital abnormality. Patient had an absent penis since birth and a normally developed scrotum with bilaterally descended testes. He had an ectopically placed urethral opening in perineum just anterior to the anus. There was a floppy skin mass which could be a rudimentary penis without any corporal tissue. The patient passes urine in a stream and was continent. USG abdomen, DMSA scan, DTPA scan, micturating cystouretherography were all normal. In >50% cases congenital anomalies like undescended testis, renal agenesis or dysplasia, musculoskeletal and gastrointestinal tract are present [2]. The classical management was a feminizing genitoplasty but currently, a male gender is assigned based on inputs from previous patient who later opted for masculinizing surgery [3]. The patient was advised reconstructive surgery but was lost to follow up.

Figure 1: Absent penis.

Figure 2: Urethral opening in the perineum.

References

1. Shuai Q, Yong LF, Yu Z, Ye Y, Qiang L. Congenital absence of the penis (Aphallia) A rare case report. 2019; 98: 15129.
2. Rattan KN, Kajal P, Pathak M, Kadian YS, Gupta R, et al. Aphallia: Experience with 3 cases. Journal of Pediatric Surgery. 2010: 45; E13-E16.
3. Kumar A. Aphallia FN. Case report and review of the literature. Saudi Surg J. 2015: 3: 13-16.