Correlation between reproductive hormone levels and genetic abnormalities in patients with non-obstructive azoospermia and oligospermia.

BACKGROUND

Although male infertility has been studied extensively, the relationship between genetic abnormalities and reproductive hormone levels remains to be explored. This study investigates the causes of non-obstructive azoospermia and oligospermia, focusing on their association with sperm concentration, reproductive hormone levels, and genetic factors.

METHODS

We retrospectively analyzed data from 144 male infertility patients, examining karyotyping, the azoospermia factor (AZF) gene variants, and reproductive hormone levels, and compared these indices with those of 35 healthy male volunteers.

RESULTS

Our analysis revealed significant differences in reproductive hormone levels between the azoospermia, severe oligospermic, and healthy control groups (P<0.05). Specifically, prolactin (PRL) levels were significantly higher in the azoospermia and severe oligospermia groups, while inhibin B (INHB) levels were significantly lower. Follicle-stimulating hormone (FSH) levels were elevated in all infertility groups. Differences in luteinizing hormone (LH) levels were observed between the azoospermia and oligospermia groups, and testosterone (T) levels were reduced in the azoospermia group. No significant differences in progesterone (PROG) and estradiol (E2) levels were observed between the groups (P>0.05). AZF gene deletions were present in 9.09% of severe oligospermia cases and 8.75% of azoospermia cases. In addition, we identified 13 cases of abnormal karyotypes in azoospermia patients, a significantly higher incidence compared to the control group (P<0.05).

CONCLUSIONS

The evaluation of reproductive hormones, AZF microdeletions, and chromosomal karyotyping is particularly valuable in the diagnosis of male infertility in patients with severe oligospermia and azoospermia. These evaluations provide essential information for genetic counseling, accurate diagnosis and acceptance of assisted reproductive treatments.