Aphallia: do sociocultural issues affect treatment decisions?

Otherwise healthy 1-month-old male patient (documented 46,XY karyotype) was referred to the plastic surgery unit for assessment. Physical exam revealed absence of penis and urethra along with a well-formed scrotum and both normally descended testicles (figure 1). No characteristic facial phenotype was noted. Also, there were no abdominal wall hernias nor abnormalities of the anal canal. An echocardiogram, abdominal ultrasound and CT were performed to exclude other malformations. CT scan revealed a functional but hypoplastic right kidney and the presence of a vesicorectal fistula. The rest of the studies including a hormonal profile were within normal limits. Figure 1 Picture showing the perineal region of the patient. Surgical fistula closure and perineal urethrostomy placement were recommended as initial treatment. Also, the possibility of either early female sexual reassignment or phalloplasty were proposed as long-term options for definitive reconstruction. The parents underwent psychological counselling to help in the decision-making process; detailed information regarding both approaches was given, emphasising the benefits of early reconstruction to allow the child to gender-identify preferentially before toilet training. Considering several factors, including the extremely low-income/resource status of the family and their limited access to health services, feminising genitoplasty was advised, being the only attainable option for the family at that moment. The parents strongly refuted the suggested procedure and decided to withhold the performance of definitive reconstruction indefinitely, allowing only for …