Contributions to Rare Phenotypes in Klinefelter Syndrome

Abstract

Contributions to Rare Phenotypes in Klinefelter Syndrome

Abstract

Purpose: Klinefelter Syndrome (47, XXY) and Y chromosome microdeletions are the most common causes of male infertility. We aimed to evaluate the most common genetic and non-genetic factors that causes 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 was performed following the isolation of genomic DNA from peripheral blood samples of patients who accepted to participate in our study. 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 Klinefelter Syndrome (3.2%) but no Y chromosome microdeletions are responsible for primary male infertility. A patient with KS that having not only short height but also not-enlarged breasts were detected. Conclusion: Physicians must be aware of unexpected features such as short stature may accompanied to KS in adult patients with untreated growth hormone. Non-genetic factors such as varicocele (28%) and smoking (28%) may have more potentials to explain primary infertility in our region.

Keywords

• Klinefelter Syndrome
• short stature
• y-chromosome microdeletion
• delayed diagnosis
• smoking

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