Cytogenetic analysis and endocrine profile in patients with nonobstructive azoospermia or severe oligozoospermia

Abstract

Objective: To study the prevalence of chromosomal anomalies in infertile males with severe oligozoospermia or non obstructive azospermia and its correlation with clinical and endocrine profile. Patients and methods: Consecutive 30 male subjects (mean age 35.5 ± 7.1 years) with primary infertility attending at the infertility clinic, Urology department, Suez Canal University Hospital, Egypt were enrolled in the study. These patients had severe oligozoospermia (n = 9) or non obstructive azospermia (n = 21). Clinically testicular volume, scrotal Doppler ultrasound examination and endocrine evaluation (serum FSH, testosterone and prolactin) were determined. Cytogenetic analysis was performed by using the GTG (G-banded using trypsin and Giemsa) banding technique. Results: Nine patients (30%) had chromosomal abnormality. Patients with Klinefelter Syndrome and de la Chapelle male syndrome represented 26.7% (n = 8) and 3.3% (n = 1) respectively. All patients diagnosed as Klinefelter group were azoospermic, while 57.1% of normal karyotyping were azoospermic and 42.9% were severe oligozoospermic (p = 0.029). Klinefelter group had significantly lower mean testosterone level than normal karyotyping group (p = 0.016). Also, Klinefelter group had significantly higher mean FSH and LH levels than normal karyotyping group (p < 0.01). The anomaly detected was 47, XXY chromosomal constitution, found in 8 (38%) out of 21 patients with non-obstructive azoospermia. Conclusion: There is a high prevalence of chromosomal abnormalities in infertile males with non obstructive azoospermia. All patients with azoospermia and severe oligozoospermia (sperm count <5 million/ml) should undergo genetic screening. Our study indicates that even those presenting to infertility clinics can be heterogeneous in terms of karyotype and phenotype. Keywords: Genetics, Infertility, Azoospermia, Karyotyping, Oligozoospermia