Also Known As
Absent sperm in semen, Azoospermatism, Sperm absent, No sperm count, Zero sperm count
Definition
Azoospermia is a medical condition characterized by the complete absence of sperm in a man’s ejaculate (semen) after centrifugation of a semen sample, confirmed on at least two separate occasions.¹ It is a significant cause of male infertility, affecting approximately 1% of the general male population and 10-15% of infertile men.¹٬² Azoospermia can arise from a variety of underlying causes, which are broadly categorized into pre-testicular, testicular, and post-testicular (obstructive) etiologies.¹ Pre-testicular causes involve hormonal imbalances or systemic diseases that affect sperm production. Testicular causes, often termed non-obstructive azoospermia (NOA), relate to impaired sperm production within the testes themselves due to genetic factors, developmental issues, infections, or other testicular damage. Post-testicular causes, known as obstructive azoospermia (OA), occur when sperm production is normal, but there is a blockage in the reproductive tract (e.g., vas deferens, epididymis, or ejaculatory ducts) preventing sperm from being ejaculated.¹٬³ The diagnosis involves a comprehensive evaluation including medical history, physical examination, semen analyses, hormonal profiling, genetic testing, and potentially imaging studies or testicular biopsy to determine the specific type and cause of azoospermia, which is crucial for guiding appropriate management and treatment strategies.¹٬⁴
Clinical Context
Azoospermia is clinically identified when a man is undergoing evaluation for infertility, as it is a primary cause of male factor infertility, affecting 10-15% of infertile men.1٬5 The clinical evaluation aims to differentiate between obstructive azoospermia (OA), where sperm production is normal but blocked, and non-obstructive azoospermia (NOA), where sperm production is impaired.1٬5
Relevant medical conditions associated with NOA include genetic disorders such as Klinefelter syndrome (XXY karyotype), Y-chromosome microdeletions (e.g., AZFa, AZFb, AZFc regions), Kallmann syndrome, and other forms of hypogonadotropic hypogonadism.1٬5 Other causes can be testicular damage from infections (e.g., mumps orchitis), chemotherapy, radiotherapy, varicocele, or exposure to gonadotoxins.1 For OA, conditions include congenital bilateral absence of the vas deferens (CBAVD), often associated with cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations, or acquired obstructions due to infections (e.g., epididymitis), trauma, or previous surgeries like vasectomy or hernia repair.1٬5
Patient selection for specific treatments depends heavily on the type of azoospermia. For men with OA, surgical reconstruction (e.g., vasovasostomy or vasoepididymostomy) may be an option if a correctable blockage is identified and the female partner has good fertility potential.5 Alternatively, sperm retrieval techniques such as Microsurgical Epididymal Sperm Aspiration (MESA) or Percutaneous Epididymal Sperm Aspiration (PESA), followed by Intracytoplasmic Sperm Injection (ICSI) with in vitro fertilization (IVF), are common.5 For men with NOA, treatment options are more limited. If hypogonadotropic hypogonadism is the cause, hormonal therapy can sometimes restore spermatogenesis.1٬5 For other NOA cases, testicular sperm extraction (TESE) or microdissection TESE (micro-TESE) can be attempted to find sperm for ICSI.5٬7 The success of sperm retrieval in NOA varies depending on the underlying pathology; for instance, micro-TESE can retrieve sperm in up to 50% of men with Klinefelter syndrome.1
Surgical procedures related to azoospermia management are primarily for sperm retrieval or reconstruction of the reproductive tract. These include: * Vasovasostomy/Vasoepididymostomy: Microsurgical procedures to reverse vasectomy or bypass other vasal/epididymal obstructions.5 * MESA/PESA/TESA/micro-TESE: Techniques to retrieve sperm directly from the epididymis or testes for use in ART.5٬7
Expected outcomes vary significantly. For OA, surgical reconstruction can lead to natural conception in a proportion of couples, with success rates depending on factors like the duration of obstruction and female partner age.5 Sperm retrieval with ICSI for OA generally has good success rates, as sperm quality is often normal.5 For NOA, the chances of finding sperm with TESE/micro-TESE are around 50-60% overall, but can be lower depending on the specific cause and testicular histology.5٬7 If sperm are retrieved, ICSI success rates are then influenced by oocyte quality and other female factors. Genetic counseling is crucial, especially if genetic abnormalities are identified, as these can be passed to offspring.1٬5 In cases where no sperm can be retrieved, options include using donor sperm or adoption.1