Diphallia as the first sign of a polymalformative syndrome

Diphallia or penile duplication is a rare anomaly, with an estimated prevalence of 1 in every 5.5 million live births. It may present alone or associated with other penile or abdominal malformations, such as renal and anorectal anomalies. At the genetic level, defects in the homeobox genes may be involved. We report a case of a 4-year-old boy, born at term, with adequate for gestational age anthropometrics, after a medically supervised pregnancy with normal prenatal ultrasounds. He exhibited two completely developed and structurally normal penile glands with urinary emission from the ventral penis, a right gluteus hypertrophy with a left side deviation of the internal groove with a well-positioned anus. Follow-up exams confirmed the presence of two complete penises (complete diphalia), a normal sized single bladder connected with two urethras (only one of which was working), and no valves or vesicoureteral reflux. The 99mTc-DMSA scintigraphy showed two kidneys, with a left uptake of 94.41%. The karyotype was normal and no cytogenetic test was conducted yet at the parents’ request. During these 4 years no urinary infection was reported and normal kidney function was confirmed in the last analytical panel. He also exhibits a global developmental delay, mostly in the language area, and is currently not enrolled in kindergarten. The surgical approach consisted on the excision of the accessory penis (with no functional urethra) and was conducted without complications. We describe a rare case of a complex polymalformative syndrome, where early and appropriate diagnosis and treatment are a major challenge and depend on the commitment of a multidisciplinary team. One has to ensure normal urinary and reproductive functions, while balancing the psychological impact, as the child gets older and more aware of physical differences.