Association between JMJD1A Expression and Sperm Retrieval in Non-Obstructive Azoospermic Patients

Identification of molecular markers which can predict the outcome of sperm retrieval non-invasively in patients with non-obstructive azoospermia (NOA) are valuable in clinical andrology. Jumonji domain-containing 1a (JMJD1A) is a significant epigenetic regulator during spermatogenesis, which plays an important role in the differentiation of post-meiotic germ cells into mature spermatozoa. We therefore aimed to examine the potential association between JMJD1A expression and the outcome of sperm retrieval in patients with NOA. Testicular biopsy specimens from 50 NOA patients with either successful sperm retrieval (sperm+, n=22) or failed sperm retrieval (sperm-, n=28) were collected and then examined for JMJD1A expression by reverse transcription-quantitative polymerase chain reaction (RT-qPCR). In addition, conventional clinical parameters including luteinizing hormone, follicle-stimulating hormone, testosterone, age, and testicular volume were compared between the two NOA groups. The expression of JMJD1A in the sperm+ group was significantly higher than in the sperm- group (P<0.001), however, no significant difference was observed between the two groups in clinical parameters. The receiver operating characteristic (ROC) curve of JMJD1A expression in predicting the sperm retrieval outcome showed a sensitivity of 90.91% and a specificity of 89.29% with significant discriminatory ability between the sperm+ and sperm- groups [area under the ROC curve (AUC)= 0.91]. This study demonstrates a significant association between the expression of JMJD1A and the success of sperm recovery in patients with NOA, and thus suggests that JMJD1A expression quantification in testicular biopsies may be a valuable biomarker along with conventional parameters in predicting the presence of spermatozoa.