45,XO/47,XXX/46,XX Male Sex Reversal Syndrome. A Case Report.
BACKGROUND Sex reversal syndrome is a genetic anomaly caused by the disorder of sex development (DSD) with the characteristics of inconsistent phenotype normal penile size but small testes and infertility re stulting from azoospermia. CASE A male patient was diagnosed with the karyo type of 45,XO/47,XXX/46,XX male sex reversal syn drome with normal pubic hair and normal penile size, high levels of follicle stimulating hormone and luteiniz ing hormone, but small testes and infertility resulting from azoospermia. CONCLUSION Sex reversal syndrome is a genetic con dition caused by DSD. Many factors can lead to DSD, but the accurate mechanism has not been completely discovered. between gonadal sexuality and chromosome sexuality, including 46,XX male and 46,XY female for the most part, but the rare type 45,XO male also can be found. Approximately 80% of males with 46,XX present' with normal pubic hair and.
The Journal of reproductive medicine