Severe Hypospadias Associated with Robertsonian Translocation

Abstract

In this study, we report a 3-year-old boy with severe scrotal hypospadias with Robertsonian translocation [45,XY,t(13q;14q)]. The patient was born at term with a low birth weight and hypospadias. There was no endocrinological abnormality. His father also has a balanced 13-14 Robertsonian translocation. Two-stage hypospadias repair was carried out. The presence of this chromosomal anomaly and hypospadias are unique to our patient, compared to others with the 45,XY,t(13q;14q) translocation. Although no such association has been reported so far, we thought that severe hypospadias in this case might be associated with this translocation.