In response to this reality, Eurofins - GENTIS has developed a comprehensive testing panel aimed at accurately screening and diagnosing the causes of male infertility. This panel not only helps doctors identify the root causes but also allows for individualized treatment plans, optimizing the chances of conception for couples.
Medical research shows that male infertility can arise from multiple causes: about 70% result from testicular defects, 15% are related to endocrine disorders, 5% involve sperm motility issues, and 10% remain unexplained. Notably, genetic factors are implicated in approximately 15% of male infertility cases. These factors may include chromosomal abnormalities, gene mutations, or epigenetic disorders, which cannot be detected using standard tests. Early detection of these genetic factors is crucial not only for accurately assessing spermatogenic potential but also for preventing the transmission of genetic disorders to future generations through controlled assisted reproductive methods such as IVF combined with PGT-M.
Dr. Vu Thu Huong (GENTIS) presented on genetic causes of male infertility at the VSSM 2025 Conference
Therefore, the process of evaluating male infertility follows a standardized protocol in line with recommendations from the European Association of Urology (EAU, 2025), the American Society for Reproductive Medicine (ASRM), and expert consensus. First, all men suspected of infertility undergo a thorough medical history review and clinical examination to evaluate relevant parameters.
The goal of the initial assessment is to identify cases that can be treated or couples with male-factor infertility who may benefit from assisted reproductive interventions. Depending on the results, further investigations may be conducted, such as testicular ultrasound to detect conditions like hydrocele or varicocele—common but treatable causes if detected early. Physicians may also order endocrine and extended tests, particularly genetic tests, to identify the underlying cause of infertility.
Semen analysis is the first and fundamental test for evaluating sperm quality. It measures sperm concentration, motility, and morphology. If abnormalities are found, the test is typically repeated after 2–3 weeks to rule out temporary factors such as stress, acute illness, or environmental influences. Additionally, endocrine evaluation through FSH, LH, and testosterone levels helps differentiate primary versus secondary hypogonadism, especially in cases with very low sperm counts (<5 million/mL).
Karyotype testing is a key genetic test performed at Eurofins - GENTIS. It is indicated for patients with azoospermia or severe oligozoospermia (sperm count <5 million/mL) to detect numerical or structural chromosomal abnormalities, such as Klinefelter syndrome (47,XXY) or chromosomal deletions and translocations. This allows physicians to provide prognosis regarding spermatogenic potential and guide appropriate treatment.
Dr. Huong shared various screening and diagnostic tests for male infertility
Another common genetic cause of male infertility is microdeletions in the AZF region of the Y chromosome, which is the second most frequent genetic factor after chromosomal abnormalities. AZFa, AZFb, and AZFc regions contain genes essential for spermatogenesis, and deletions in these areas can directly cause infertility. Testing is indicated for azoospermic men or those with sperm counts below 5 million/mL, and is mandatory for counts below 1 million/mL. Identifying deletions in AZFa or AZFb is crucial because affected patients typically lack spermatogenic potential, preventing unnecessary interventions, while AZFc deletions may still allow for sperm retrieval and assisted reproduction. This test also plays a role in genetic counseling, as Y chromosome deletions in the father can be inherited by sons via ICSI.
Another cause of obstructive male infertility is congenital absence of the vas deferens (CBAVD), commonly associated with CFTR gene mutations causing cystic fibrosis. Men with low semen volume (<1 mL), acidic semen (pH <7.0), and absent sperm, along with relevant clinical history, are tested for CFTR mutations. At GENTIS, this test uses PCR combined with Sanger sequencing to detect 22 common CFTR mutations, including variants like Val470Met and Arg117His, as well as IVS8 polymorphisms. Results allow physicians to identify CBAVD-related infertility and plan treatments such as vas deferens reconstruction, testicular sperm extraction, or IVF/ICSI, while providing genetic counseling to prevent cystic fibrosis in offspring.
Beyond basic genetic tests, sperm DNA fragmentation (SDF) testing is an important tool in diagnosing male infertility, particularly in unexplained infertility, recurrent miscarriage, or repeated IVF/ICSI failure. At GENTIS, SDF is performed using the SCSA method, which employs specialized fluorescent dyes and flow cytometry to assess sperm DNA damage. Based on SDF results, physicians can recommend lifestyle modifications (e.g., quitting smoking, weight loss, reducing environmental toxin exposure, antioxidant supplementation) or interventions such as varicocele repair or advanced sperm selection techniques like PICSI or MACS to improve treatment outcomes.
Dr. Huong discussed the benefits of genetic testing in male infertility screening and diagnosis
At the 2025 National VSSM Scientific Conference, MSc. Dr. Vu Thu Huong (R&D Specialist at GENTIS) noted that in 30–40% of cases, even after all standard tests, the cause of infertility remains unknown. Next-generation sequencing (NGS) offers a breakthrough by analyzing large panels of genes related to spermatogenesis, identifying rare or novel mutations. Targeted gene panels or whole exome sequencing (WES) can determine molecular-level causes. However, incidental findings or variants of uncertain significance (VUS) may complicate counseling and treatment decisions. GENTIS has a team of genetic experts capable of multidisciplinary consultation and international database review to provide personalized guidance.
Dr. Huong emphasized that not every patient requires genetic testing; it should be performed only with clear clinical indications. Selecting the appropriate test prevents unnecessary interventions, accurately identifies the cause of infertility, enables individualized treatment, informs the choice of assisted reproduction methods, guides PGT-M if needed, and most importantly, reduces risk for future generations.
With over 15 years of experience in genetic testing, Eurofins - GENTIS is a pioneer in Vietnam in applying genetic diagnostics to male infertility. Beyond being a laboratory, GENTIS collaborates with doctors, fertility centers, and patients to make precise, individualized treatment decisions, ultimately helping couples achieve their dream of parenthood safely and sustainably.
