Detection of genetic abnormalities after two years of infertility

Ho Chi Minh City, Mr. Hoang was infertile for two years. He intended to ask for sperm for in vitro fertilization but discovered a genetic abnormality. He received treatment to restore his ability to produce sperm to help have children.

Mr. Hoang was diagnosed with infertility due to no sperm in his semen (azoospermia). He twice performed the procedure to retrieve sperm directly from testicular tissue (TESE) at a hospital but the quality was not met. The doctor advised him to ask for donated sperm for in vitro fertilization (IVF), but he refused, turning to traditional medicine, Chinese medicine, and word-of-mouth remedies, but they were ineffective.

In the middle of this year, he and his wife went to Tam Anh General Hospital in Ho Chi Minh City to register for sperm from the bank. Doctor Nguyen Quang Vinh, Andrology Unit, Center for Reproductive Support, comprehensively evaluated Mr. Hoang's health and reproductive function combined with genetic testing. The results found that Mr. Hoang had a deletion in the AZFbc segment - a genetic abnormality related to spermatogenesis.

Dr. Vinh explained that the AZF region is located on the long arm of the Y chromosome, containing important genes for sperm production and maturation. In Mr. Hoang's case, he lost both the AZFb and AZFc regions at the same time, causing the germ cells to not develop into mature sperm.

"The prognosis of finding sperm with conventional surgery is almost zero," Dr. Vinh said, adding that the patient's male hormone testosterone level bottomed out, reaching only 6 nmol/L (standard level above 12 nmol/L). Instead of intervening in the testicles to find sperm, Dr. Vinh applies a medical treatment regimen to rebalance the endocrine system and stimulate remaining spermatogenesis.

After two months of treatment, Mr. Hoang's testosterone increased to 18 nmol/L, sperm began to appear in his semen. 5 samples were frozen for use in the assisted reproduction process. The sperm was then fertilized with the wife's eggs using the intracytoplasmic sperm injection (ICSI) technique and created 7 embryos on day 3, raised to 5 embryos on day 5.

Currently, the wife is in the process of preparing the endometrium and plans to have an embryo transfer in the near future. Mr. Hoang needs follow-up examinations as prescribed to monitor testosterone levels, avoiding the risk of osteoporosis or depression due to hypogonadism.

According to Dr. Vinh, deletions on the Y chromosome appear in about 10-15% of azoospermic men and 5-10% of cases of severe oligospermia. In men with AZFbc deletion, spermatogenesis can be severely disrupted. Patients often present with azoospermia. When testicular tissue is examined, only Sertoli cells may remain - cells that have the function of nurturing and supporting germ cells. Compared with simple deletion of AZFc, complete deletion of AZFb or AZFbc has a significantly lower prognosis for sperm retrieval.

Dr. Vinh recommends that men diagnosed with sperm abnormalities should not self-treat with drugs of unknown origin or delay specialist examination. Genetic testing helps determine the cause of azoospermia, choose appropriate reproductive support methods, perform minimally invasive interventions, and preserve the patient's physiological function.

Dinh Lam

*The names of the characters in the article have been changed