Research Information System
JOURNAL OF BASIC AND CLINICAL HEALTH SCIENCES, vol.9, no.1, pp.58-65, 2025 (ESCI)
Purpose: Klinefelter Syndrome (KS; 47, XXY) and Y chromosome microdeletions are the most common genetic
causes of male infertility. Our goal was to assess these factors contributing to male infertility in our region.
Material and Methods: In this current study, 58 patients diagnosed with azoospermia/oligozoospermia were invited
to the polyclinic and 2 ml peripheral blood samples were collected. Genotyping by employing PCR based-fragment
analysis was conducted after isolating genomic DNA from the peripheral blood samples of patients who consented to
participate in our study. Patients' FSH, LH, and testosterone levels, as well as their physical examinations, were
carefully evaluated.
Results: We found that high follicle stimulating hormone (FSH) value can be used as a predictive factor in
azoospermia. We successfully revealed the potential of KS (3.2%) but no Y chromosome microdeletions are
responsible for primary male infertility. A patient with KS was identified, exhibiting not only short stature but also a lack
of breast enlargement.
Conclusion: Non-genetic factors such as varicocele (28%) and smoking (28%) may have greater potential to explain
primary infertility in our region. Physicians should be aware that unexpected features such as short stature may
accompany KS in adult patients who have not received growth hormone treatment.