• PMID: 20508065
• Gene Name: DDX4
• Condition: Azoospermia
• Association: In conclusion, testicular biopsies display different expression profiles for c-KIT and VASA depending on the azoospermic aetiology. These results can be used as a complementary tool to create new molecular categories for diagnoses in azoospermic patients,
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Azoospermia

Comparative analysis of the germ cell markers c-KIT, SSEA-1 and VASA in testicular biopsies from secretory and obstructive azoospermias

Medrano JV, Marqués-Marí AI, Aguilar CE, Riboldi M, Garrido N, Martínez-Romero A, O'Connor E, Gil-Salom M, Simón C.

Testicular biopsy is needed to confirm diagnosis in azoospermic patients and to recover spermatozoa, if possible. This report aims to quantitatively analyse the germline markers stage-specific embryonic antigen (SSEA-1), c-KIT and VASA in testicular biopsies with distinct azoospermic aetiologies. Twenty-three testicular biopsies were analysed by flow cytometry and RT-qPCR for c-KIT, SSEA-1 and VASA. In all the Sertoli cell-only (SCO) samples, significantly lower VASA mRNA expression and fewer VASA+ cells were found compared with obstructive controls. Maturation arrest (MA) cases showed significant differences only with the non-mosaic SCO samples when compared for VASA mRNA expression and percentage of VASA+ cells, but not with the mosaics. However, the normalized VASA-KIT parameter obtained by subtracting the percentage of c-KIT+ cells from the percentage of VASA+ cells showed significant differences between the MA and all the SCO samples. RT-qPCR consistently found differences for the VASA expression between SCO mosaic and non-mosaic samples. However, by flow cytometry, only VASA-KIT showed significant differences between them. Conversely, the percentage of SSEA-1+ cells revealed no inter-group differences. In conclusion, testicular biopsies display different expression profiles for c-KIT and VASA depending on the azoospermic aetiology. These results can be used as a complementary tool to create new molecular categories for diagnoses in azoospermic patients, particularly useful to discriminate between mosaic and non-mosaic SCO patients. FAU - Medrano, J V AU - Medrano JV AD - Valencia Stem Cell Bank, Centro de Investigación Príncipe Felipe (CIPF), Valencia 46012, Spain. FAU - Marqués-Marí, A I AU - Marqués-Marí AI FAU - Aguilar, C E AU - Aguilar CE FAU - Riboldi, M AU - Riboldi M FAU - Garrido, N AU - Garrido N FAU - Martínez-Romero, A AU - Martínez-Romero A FAU - O'Connor, E AU - O'Connor E FAU - Gil-Salom, M AU - Gil-Salom M