• PMID: 24728569
• Gene Name: TSPY1
• Condition: Azoospermia
• Association: Molecular findings of precipitated semen and testicular tissues were in disagreement with histopathological results in most cases. Molecular analysis of testis biopsies showed significant difference (Kappa coefficient=0.009, P value=0.894) with histopatho
• Population size: 114
• Population details: 114 (83 semen samples, 31 non-obstructive azoospermia)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: TSPY1, DAZ, SPTRX3 and SPTRX1
• Other associated phenotypes: Azoospermia

Molecular analysis of testis biopsy and semen pellet as complementary methods with histopathological analysis of testis in non-obstructive azoospermia

Eghbali M, Sadeghi MR, Lakpour N, Edalatkhah H, Zeraati H, Soltanghoraee H, Akhondi MM, Hashemi SB, Modarressi MH.

PURPOSE: Non-obstructive azoospermia (NOA) is one the many causes of male infertility (10 %) resulting from testicular failure. Multiple testicular biopsies fail to find mature sperm in at least 50 % of cases Therefore; hunting for sensitive and specific biomarkers of spermatogenesis that could better determine the fertility status in NOA can lead to improved management of male infertility. Therefore, we evaluated sperm production through analyses of germ cell-specific transcripts (DAZ, TSPY1, SPTRX3 and SPTRX1) in semen and testicular biopsies of men with azoospermia. METHODS: We collected semen (N=83) and testis biopsies (N=31) from men with non-obstructive azoospermia. We later extracted RNA and synthesized cDNA using washed semen precipitate and testicular tissues. We also performed semi-nested PCR with designed specific primers. Using H&E method, an expert pathologist performed the histopathological evaluation. Having categorized the patients into three groups based on histopathological results, we calculated the agreement between molecular results of semen and tissues with histopathological findings for each patient using Kappa statistical test. RESULTS: Molecular findings of precipitated semen and testicular tissues were in disagreement with histopathological results in most cases. Molecular analysis of testis biopsies showed significant difference (Kappa coefficient=0.009, P value=0.894) with histopathological results; TSPY1, DAZ, SPTRX3 and SPTRX1 were respectively detected in 94 %, 94 %, 17.6 % and 52.9 % of men diagnosed with germ cell aplasia. CONCLUSIONS: Molecular analysis of semen does not provide sufficient sensitivity and specificity to be used as a screening test at the present time, but it is a useful adjunct to histopathological methods in men with NOA. Spermatid/sperm specific transcripts indicated the possibility to find mature sperm following repeated multiple testicular sperm extraction (TESE) or microdisection TESE (mTESE). FAU - Eghbali, Maryam AU - Eghbali M AD - Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Poursina Ave, 16 Azar St. Keshavarz BLVD, Tehran, Iran, 1417613151. FAU - Sadeghi, Mohammad Reza AU - Sadeghi MR FAU - Lakpour, Niknam AU - Lakpour N FAU - Edalatkhah, Hale AU - Edalatkhah H FAU - Zeraati, Hojjat AU - Zeraati H FAU - Soltanghoraee, Haleh AU - Soltanghoraee H FAU - Akhondi, Mohammad Mehdi AU - Akhondi MM FAU - Hashemi, S Behnam AU - Hashemi SB