Erectile function in SRY positive 46,XX males with normal phenotype

The 46,XX male syndrome is a rare disorder of sex development and has two different forms, depending on the sex-determining region's presence on the Y chromosome (SRY) gene. The SRY positive 46,XX males are usually diagnosed during infertility workup. We evaluated the erectile function of 46,XX SRY positive males and compared it with healthy males.

Ten patients with azoospermia and 46,XX SRY positive disorder who referred to a urology clinic with infertility were analyzed retrospectively. Controls were chosen from healthy males at similar ages. The physical examination was performed, and serum hormones were obtained at admission. The clinical assessment of erectile dysfunction was evaluated by the International Index of Erectile Function (IIEF) questionnaire.

There was no statistically significant difference between the two groups in terms of age, serum prolactin, luteinizing hormone (LH) levels and IIEF scores (P >0.05). In 46,XX males, serum follicle-stimulating hormone (FSH) levels were significantly higher, and total testosterone levels and testicular volumes were found to be significantly lower when compared to controls (p <0.001, p <0.05, p <0.01, respectively).

This study indicates that these males' erectile function is similar to those of 46,XY males.