What is azoospermia? causes, diagnosis and treatment

Medically Reviewed by Dr Sravya, MBBS, MS

Introduction

Obstructive Azoospermia

John, a 35-year-old male, decided ten years ago not to have any more children and underwent a vasectomy. But now that he has remarried, he wants to have children with his new wife. He sees a fertility specialist, who determines that his vasectomy-related obstruction of the vas deferens results in obstructive azoospermia.

The doctor advises surgery to reattach the vas deferens and restore sperm flow and this is the perfect example of azoospermia treatment. Which would enable John to become a parent.

Non-Obstructive Azoospermia

A 28-year-old man named Michael and his wife have been trying to get pregnant for more than a year now without any luck. They choose to go to a reproductive health clinic for assistance. Michael is identified as having non-obstructive azoospermia following a complete evaluation that includes hormone tests and a testicular biopsy. His testes are not successfully producing sperm as a result of a hereditary issue, according to the biopsy.

For the treatment of azoospermia the couple is advised on their options, which may involve sperm retrieval procedures followed by donor egg in vitro fertilization (IVF).

Varicocele-related azoospermia

A 30-year-old man named David has developed pain and swelling in his scrotum. He sees a urologist, who gives him the diagnosis of having a varicocele, or swelling of the scrotal veins. His sperm production is being hampered by the varicocele, which results in non-obstructive azoospermia. To increase blood flow and perhaps restart sperm production, the urologist advises surgical removal of the varicocele.

Genetic disorder-related azoospermia

Early-forties Sarah and James have been trying to conceive for a number of years without any luck. James is found to have Klinefelter syndrome, a genetic disorder that results in the existence of an extra X chromosome, after they undergo fertility testing. Testicular dysfunction and non-obstructive azoospermia have resulted from this disorder. The couple is informed about donor sperm use and assisted reproductive technology as possible pregnancy options for the treatment of azoospermia.

These cases show the variety of azoospermia’s causes and potential outcomes. Each person’s situation is unique, and the best course of action depends on the underlying cause, degree of severity, and fertility goals of the couple. For a precise diagnosis and individualized advice, it’s critical for individuals and couples struggling with infertility to speak with medical specialists who specializes in reproductive health.

Table of Contents

Causes

Azoospermia can be caused by a blockage of the reproductive system (obstructive azoospermia) or by insufficient spermatozoa production, in which case spermatozoa do not show up in the ejaculate (non-obstructive azoospermia).
Azoospermia is identified when there are no spermatozoa present after centrifuging full semen specimens and examining the results under a microscope.
To identify the etiology of azoospermia, a medical history, physical examination, and hormonal testing (FSH, testosterone) are conducted.
Obstructive azoospermia can be acquired (through infections, vasectomy, or other iatrogenic damage to the male reproductive system) or congenital (congenital lack of the vas deferens, idiopathic epididymal blockage).

Diagnosis of obstructive azoospermia

It is characterized by an average testicular volume and indurated epididymis, whereas it has tiny, soft testicles and flat, weak epididymides. Along with a history of past effective infertility, it is characterized by previous surgeries, infections, or congenital anomalies.
The primary focus of a physical checkup ought to be on vassal gaps, the position of the vasectomy site, the presence of granulomas at the vasectomy site, and epididymal defects such as complete or absent portions.
Because of the absence of normal negative feedback from inhibin B and testosterone on the hypothalamus and pituitary, laboratory levels are normal in it and often increased in it.
A higher requirement for assisted reproduction during vasectomy reversal may be indicated by elevated FSH in it.
It is possible to identify abnormalities in the structure of the epididymis, seminal vessels, and prostatic cysts using scrotal and transrectal ultrasonography, which can assist to determine the cause of azoospermia.

Diagnosis of non-obstructive azoospermia

Up to 19% of males have chromosomal abnormalities found by karyotype analysis, which can be both numerical and structural.
Klinefelter syndrome (47, XXY; occurring in 1/600 males) is the most common karyotype anomaly, while Robertsonian translocations (fusing the long arms between acrocentric chromosomes 13,14, 15, 21, or 22) represent a common structural abnormality.
A rising X chromosome count is associated with declining spermatogenesis. Three azoospermic factors (AZF) areas on Yq11 (the long arm of the Y chromosome) include YCMDs that encode proteins that affect spermatogenesis.
The most prevalent type of Kallmann syndrome affects men with congenital hypogonadotropic hypogonadism and presents with a variety of symptoms, including anosmia/hyposmia brought on by the improper movement of GnRH-secreting neurons originating in the nasal olfactory epithelial cells to the basal hypothalamus throughout embryogenesis.
Even when pituitary gonadotrophs have been detected and are normal, the lack of hypothalamic GnRH prevents the pituitary from being triggered to create LH and FSH. As a result, the generation of testosterone by the testes as well as spermatogenesis are not promoted.

Treatment of obstructive azoospermia

Where desirable, the best care of vassal or epididymal blockage is microsurgical repair (vasovasostomy or vasoepididymostomy, respectively), employing the multilayered microdot vasovasostomy method and transverse sensory perception vasoepididymostomy techniques and these are the most usable in treatment of azoospermia.
Both procedures, developed at Cornell, call for adherence to established microsurgical principles, such as carefully maintaining the blood supply while achieving tension-free, water-tight anastomosis.
If reconstruction proves failed, sperm collection and cryopreservation for upcoming IVF/ICSI should be done intraoperatively for vasoepididymostomy operation in the treatment of azoospermia.
Microsurgical epididymal sperm aspiration (MESA) in conjunction with IVF/ICSI is the recommended course of treatment for situations when surgical treatment is not an option, such as for males with CBAVD.
Cryopreserved sperm from males with OA may be utilized for IVF/ICSI because research shows that both fresh and frozen sperm provide great results. Testicular and epididymal sperm via men with OA was discovered to produce equivalent results with IVF/ICSI, although MESA normally generates a lot more sperm compared with testicular sources.

Treatment of non-obstructive azoospermia

Before the development of IVF/ICSI and microsurgical testicular sperm extraction methods, donor fertilization was the only method available to men via treatment of non-obstructive azoospermia.
In comparison to a non-microsurgical method, microdissection testicular sperm extraction in conjunction with IVF/ICSI, for suitable azoospermic patients determined by laboratory and genetic testing (e.Klinefelter syndrome, AZFc microdeletion patients), yields sperm in about 60% of cases along with higher sperm recovery rates and lowered structural alterations of the testis.
Additionally, there is no correlation between pretreatment testicular volume, FSH levels, or the hormone testosterone response to hormonal treatment and TESE sperm retrieval results in hypogonadal males with NOA. However, Klinefelter patients do show better sperm retrieval results when preoperative testosterone was raised to more than 250 ng/dl along with medical therapy.
Men with past experiences of chemotherapy-related NOA were additionally shown to benefit from microTESE (mean SRR of 43%), with patients who had testicular cancer seeing the greatest outcomes and those who had a history of sarcoma experiencing the poorest outcomes. In contrast to men with hypogonadotropic and oligospermia, no evidence giving men with NOA caused by primary testicular failure additional gonadotropins will be beneficial.
Cryopreserved sperm from males with OA may be utilized for IVF/ICSI because research shows that both fresh and frozen sperm provide great results. Testicular and epididymal sperm via men with OA was discovered to produce equivalent results with IVF/ICSI, although MESA normally generates a lot more sperm compared with testicular sources.

Conclusion

Developing a differentiation between OA and NOA is necessary to provide therapy and diagnostic alternatives for people with azoospermia.

The diagnosis of obstructive azoospermia is made using a combination of physical and medical history, laboratory tests, genetics, and imaging investigations as necessary.

OA develops as a result of blockage of the male reproductive system. If there is a vassal or epididymal blockage, microsurgical repair, based on multifactorial decision analysis, gives effective, safe, and economical results employing the most contemporary methods.

Although normal spermatogenesis usually exists in OA, microsurgical sperm extraction offers great results when used along with ART when the patient or obstructive etiology precludes microsurgical regeneration.

Clinical evaluation, testing in the laboratory (FSH), as well as genetic testing, are used to distinguish those suffering from NOA (which encompasses primary testicular failure as well as subsequent testicular failure) from those with OA.

Microdissection, testicular semen extraction procedure, and IVF/ICSI are all part of the treatment.

Varicocelectomy may be helpful in cases of varicocele with NOA. The diagnosis and outlook for patients with azoospermia will be improved by future research into biological and genetic processes.