XX male with the SRY gene: A report of two cases

Two cases of an XX male with the SRY gene are herein reported. The first case was a 36-year-old married man who presented complaining of infertility. His height was 163 cm and weight 56.5 kg. No gynecomastia was noted. His external genitalia showed a normal male type, but bilateral small testes were noticed. In a semen analysis azoospermia was identified. The serum levels of LH and FSH were highly elevated while the serum testosterone level was slightly low. In addition, no seminiferous tubules were revealed but a proliferation of Leydig cells was identified in testicular biopsy specimens. A chromosomal analysis showed a 46, XX karyotype. In a lymphocytic DNA analysis using the polymerase chain reaction method, the SRY gene was also identified. The second case was a 29-year-old married man who also presented complaining of infertility. His height was 171.5 cm and weight 59 kg. No gynecomastia was noted. His external genitalia showed a normal male type, but bilateral small testes were noticed. In a semen analysis azoospermia was identified. The serum levels of LH and FSH were highly elevated while the serum testosterone level was slightly low. A chromosomal analysis showed a 46, XX karyotype. In a lymphocytic DNA analysis using the polymerase chain reaction method, the SRY gene was also identified. The etiology of XX males has been previously thoroughly discussed in the literature. We review the literature while also discussing the etiology of XX male.