46 XX male syndrome: a case report

46 XX male syndrome (de la Chapelle syndrome) is a rarely seen genetic disorder causing male infertility. It is generally a result of unequal crossing over between X and Y chromosomes.

A 26-year-old infertile male was referred to the Urology Department. He had normal external male genital phenotype and secondary sex characters. No gynecomastia was noted. At physical examination soft and atrophic testes were palpated. Laboratory analysis and testis biopsies indicated nonobstructive azospermia. Chromosomal analysis showed 46 XX karyotype.

In the literature, there are various phenotypic properties of 46 XX male patients. Thus, translocation of the sex determining region (SRY) the gene probably cannot be the only reason for XX male syndrome. There might be some other abnormalities leading to de la Chapelle syndrome.