Hemiscrotal agenesis: a novel phenotype of a rare malformation.

Background Hemiscrotal agenesis (HSA) is an exceedingly rare congenital anomaly in scrotal development. It is characterized by unilateral absence of scrotal skin with intact midline raphe. In the English literature, only seven patients were diagnosed with HSA. Herein, we report a 14-month-old boy with HSA, unilateral cryptorchidism and a perineal skin tag. Additionally, the patient had a monodactylous limb, unilateral cerebellar hypoplasia, and a cardiac septal defect. Case presentation A 14-month-old boy presented with right HSA and ectopic scrotal skin in the right perineal region. Extra-genital examination showed right monodactylous lower limb, without dysmorphic facial features or any other skeletal anomalies. His karyotype was 46, XY, while his hormonal profile showed prepubertal LH and FSH. Skeletal survey showed right monodactylous lower limb (with only a big toe which had 2 phalanges) and normal spine alignment. A previous echocardiography was done and showed a small muscular ventricular septal defect (VSD) that closed on follow-up. Magnetic resonance imaging of the brain showed posterior fossa malformation. The patient had his right testis fixed in the right scrotum. The pathological examination of the perineal lesion showed fibro-epithelial polyp (skin tag), with no testicular tissue or atypia. Conclusion We believe that this is the first case to be reported with hemiscrotal agenesis and ipsilateral cryptorchidism, associated with a perineal skin tag, unilateral monodactylous lower limb on the same side, unilateral cerebellar hypoplasia, and VSD. Interestingly, further genetic analysis is required to reach a final diagnosis. However, regrettably, advanced molecular diagnostic studies for this patient is not available in our country.