Clinical Image of Aphallia: A Rare Congenital Anomaly

Abstract

A six-year-old boy with a karyotype of 46XY presented to the outpatient department with congenital absence of the penis, known as aphallia (Table/Fig 1). He was born from an uncomplicated pregnancy, with no family history of congenital anomalies or consanguinity. Upon further history-taking and physical examination, it was discovered that he was passing urine from an external urethral opening located in the perineum. A local examination revealed a total absence of the penis, and bilateral testes could not be palpated in the scrotum. Apart from this, there were no other identifiable external abnormalities. An abdominal and inguinoscrotal ultrasound showed left kidney pyelectasis, and the right testis was found to be undescended, located in the inguinal canal, while the left testis was present at the neck of the scrotum. Doppler ultrasound indicated internal vascularity in both testes. Due to these findings, the parents were counselled regarding the nature of the condition, and the patient was ultimately referred to a higher centre for further management by a specialist in Disorders of Sexual Differentiation (DSD) regarding the case of aphallia.

Keywords

• congenital abnormalities
• genitourinary system
• male genitalia
• paediatrics