Genetic and semen examination of patients with 46,XX testicular disorder of sex development

Background. 46,XX male syndrome (XX sex reversal) or 46,ХХ testicular disorder of sex development (DSD) – a genetic disorder that characterized by primary hypogonadism and male infertility because of severe spermatogenesis defects. 46,XX testicular DSD is resulted from unbalanced microstructural sex chromosome abnormalities, mostly X-Y translocations involving SRY gene. Genetic heterogeneity and phenotypic variability, particularly the effect of the genotype on semen parameters in XX sex reversed patients are not sufficiently studied.Aim. Genetic and semen examination in patients with 46,ХХ testicular DSD.Materials and methods. 32 patients with 46,XX testicular DSD and 2 men with mosaicism 46,XX/46,XY were examined. Cytogenetics, molecular genetics and spermatology examination (standard semen analysis and quantitative karyological analysis of immature germ cells) were performed.Results. The presence of the SRY gene was detected in 23 (82.1 %) of 28 patients who underwent a molecular genetic study, and 5 patientswere SRY-negative. Azoospermia and severe oligozoospermiawere diagnosed in 24 (75 %) and 8 (25 %) patients, respectively. Quantitative karyological analysis of immature germ cells allowed to reveal cryptozoospermia in 3 patients with initially diagnosed azoospermia (according to a standard semen analysis). Severe oligozoospermia and cryptozoospermia were mentioned both in some of SRY-positive and SRY-negative patients.Conclusion. 46,XX testicular DSD is characterized by severe degree of spermatogenesis defects (azoospermia and extremely severe oligozoospermia). Small number of germ cells detected in ejaculate in some patients with 46,XX testicular DSD, including SRY-negative individuals, indicates partial preservation ofspermatogenesisin the absence of Y chromosome genes.