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 oligozoosper-mia 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 (Gbanded 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.