Unveiling the Genetic Complexity: A Case of 46 XY Disorder of Sex Development Linked to Chromosome 9 Inversion and Its Multidisciplinary Management.

This is a case report of a five-year-old patient with a rare 46 XY DSD (disorder of sex differentiation) due to chromosome 9 inversion. DSD involves a wide spectrum of genetic, gonadal, and anatomical abnormalities that are linked to complex clinical conditions of 46 XY DSD in the presence of a normal SRY gene. Ambiguous genitalia due to chromosome 9 inversion is a rare occurrence triggering further research options. The patient presented with ambiguous genitalia, difficulty in urination, and inguinal swelling. Despite a typical SRY gene, the inversion likely disrupted other crucial genes impacting sexual and neurological development. Laparoscopic-assisted total urogenital mobilization was performed on the patient, which resulted in improved urinary function and cosmetic outcomes. This case illustrates that genetic influences in DSD are complex, implying the need for a multidisciplinary approach to diagnosis and management. It outlines that chromosome 9 inversion should always be taken into consideration when a normal SRY gene is present, as observed in our case.