The significance of genetic testing in male infertility patients, indications for testicular biopsy and histological scoring in azoospermia.

Many genes are involved in gonadal development and spermatogenesis. Abnormalities in these genes can affect testicular development or lead to spermatogenesis disorders. For example, the absence of azoospermia factor can lead to azoospermia; mutations in the CFTR gene can cause bilateral absence of vas deferens, resulting in obstructive azoospermia. If you have given birth to a child with a hereditary disease or if there are family members with hereditary diseases such as congenital deafness, albinism, phenylketonuria, red-green color blindness, hemophilia, congenital adrenal hyperplasia, thalassemia, polycystic kidney disease, polydactyly, syndactyly, galactosemia, achondroplasia, mucopolysaccharidosis, vitamin D-resistant rickets, or progressive muscular dystrophy, appropriate genetic testing is necessary.

Men with abnormal genetic testing results who wish to have children should consult a genetic counseling clinic based on the results to determine their next treatment options. These options include abandoning treatment, adopting a baby, or undergoing preimplantation genetic diagnosis (PGD). PGD, commonly known as third-generation IVF, can help some men with abnormal genetic testing to have healthy children.

If three or more semen analyses fail to detect sperm, a testicular biopsy is necessary. Testicular biopsy is the gold standard for diagnosing testicular spermatogenesis. Testicular biopsy, or simply testicular biopsy, is a clinical technique with both diagnostic and therapeutic functions. It involves a simple surgical procedure to remove a small piece of living testicular tissue for pathological histological examination to understand the status of testicular spermatogenesis. This can be used to diagnose testicular diseases and assess prognosis. Hormone and biochemical tests cannot accurately reflect testicular spermatogenesis compared to testicular biopsy. This is because testicular biopsy directly examines the seminiferous tubules of the testis, while endocrine and biochemical tests indirectly assess spermatogenesis.

(1) Azoospermia with normal testicular volume, reproductive hormones, and genetic factors.

(2) Inability to ejaculate despite treatment, failure to separate sperm in urine during retrograde ejaculation, and erectile dysfunction that cannot be achieved by any form of stimulation.

(3) Separation of epididymis and testis.

(4) Necrospermia.

(5) Semen cannot be obtained on the day of egg retrieval.

(6) Percutaneous epididymal sperm retrieval failed.

The histological scoring criteria for testicular biopsy are as follows:

10 points indicates normal spermatogenesis.

A score of 9 indicates mild alteration in spermatogenesis, with an increased number of sperm cells and disordered arrangement of epithelial cells in the later stages.

8 points indicates fewer than 5 sperm cells per tubule, with fewer sperm cells in later stages.

7 points: no sperm or late-stage sperm cells, with a large number of early-stage sperm cells.

6 points: no sperm or late-stage sperm cells, few early-stage sperm cells.

5 points: no sperm or sperm cells, but a large number of spermatocytes.

4 points: no sperm or sperm cells, few spermatocytes

3 points only have spermatogonia

2 points: no spermatogenic cells, only Sertoli cells.

1 point of azoospermic epithelium

Chemical elements are important components of seminal plasma, including potassium, sodium, chlorine, calcium, magnesium, zinc, selenium, iron, manganese, copper, cobalt, and aluminum. These elements are essential biochemical components of semen, participating in maintaining the stability of the sperm's survival environment, participating in sperm formation, and influencing sperm maturation and motility. A decrease in their levels can lead to changes in semen quality. Both the deficiency of essential chemical elements and the accumulation of harmful chemical elements can significantly impact sperm biological function. Therefore, the detection of chemical elements in semen is an important indicator for assessing semen quality and fertility.

Among many elements, zinc is the most abundant essential element in the body. It is a cofactor for over a hundred enzymes, and in men, it is mostly concentrated in the reproductive organs. Seminal plasma contains a high concentration of zinc. If zinc levels decrease, it can lead to decreased sexual function, reduced sperm concentration, decreased testosterone synthesis, amino acid metabolism disorders, impaired protein synthesis, and stagnation of sperm formation. Zinc deficiency can affect seminal plasma metabolism and sperm motility.

It is generally believed that couples of childbearing age who do not use contraception have an average of 20% chance of conceiving each menstrual cycle, a 50% chance of conceiving within 3 months of marriage, a more than 70% chance within 6 months, and an more than 80% chance within 1 year of marriage. The World Health Organization (WHO) defines male infertility as infertility caused by male factors in couples who have lived together for more than one year without using any contraception.

Current research reports that infertility may affect 10% to 15% of couples of reproductive age. Of these, 20% to 25% involve both partners having infertility or reproductive factors, with 20% to 25% caused by male factors and the remaining 50% to 60% by female factors. Therefore, male infertility is also very common.

The essential conditions for male fertility include the following two aspects: ① Normal anatomical and functional reproductive organs, with normal sperm production. ② Normal sexual function, capable of ejaculating semen into the female reproductive tract.

As discussed in Chapter 1, the male reproductive organs are divided into internal and external genitalia. Deformities, defects, inflammation, and functional abnormalities of these reproductive organs can all affect male fertility and lead to male infertility.

Normal male sexual function includes sexual arousal, erection, intercourse, ejaculation, and orgasm. This series of reflexive activities is the result of the combined effects of a healthy nervous, endocrine, and reproductive system; it also requires close cooperation between both partners to achieve harmony. The cerebral cortex plays a leading role in sexual function, controlling, either exciting or inhibiting, the lower centers (erection and ejaculation centers). Sexual dysfunction, such as changes in libido, impotence, and ejaculatory disorders, can lead to male infertility.