Genetic syndrome causing sperm depletion

Ho Chi Minh City – After being married for over a year without children, 32-year-old Duc was diagnosed by doctors with Klinefelter syndrome, a genetic disorder that reduces sperm production.

Mr. Dai (from Long An province) visited Tam Anh General Hospital in Ho Chi Minh City for an examination on November 22nd, and tests revealed no sperm in his semen.

After ruling out other potential causes of male infertility, Dr. Tran Huy Phuoc, from the Department of Andrology at the Center for Urology, Nephrology, and Andrology, ordered blood and genetic tests, diagnosing the patient with Klinefelter syndrome. Men with this syndrome have two or more X chromosomes in their chromosomal set (XXY), resulting in poor sperm production, or even no sperm at all, and a high risk of hypogonadism.

Currently, there is no cure for this syndrome. Mr. Duc was advised by his doctor to undergo micro-TESE surgery to find sperm for artificial insemination in order to have a child. Dr. Phuoc assessed that although no sperm were found in the patient's semen, there is still a possibility that sperm are present in the testicles.

Doctor Phuoc advises a patient. Photo: Thang Vu

On the same day, Thien (26 years old) went for a pre-marital test, preparing to get married in three months. He was surprised when the doctor told him that his sperm count was gradually decreasing due to a genetic condition called Klinefelter syndrome.

The patient's semen analysis showed a low sperm count of approximately 2 million sperm/ml (normal sperm count in men is 16 million/ml or higher), with a viability rate of about 20% (normal is over 54%). Dr. Phuoc advised the patient to freeze his sperm as soon as possible to avoid the risk of infertility later on.

In Vietnam, approximately 7.7% of couples of reproductive age experience infertility. Causes related to the husband account for 50% of cases, with 15-20% due to genetic disorders.

Men with this syndrome exhibit non-specific symptoms, often tall with long limbs, sparse hair, enlarged breasts, an enlarged penis, and testicular atrophy and hardening due to fibrosis. In the early stages, symptoms are unclear and easily mistaken for other conditions.

Husbands are usually diagnosed after 6-12 months of regular, unprotected intercourse with their wives who have failed to conceive or experienced multiple miscarriages. By then, the quality and quantity of sperm have been severely damaged, with some cases resulting in the complete absence of sperm. Approximately 26-37% of cases are diagnosed, with only 10% occurring before puberty, and the remainder after age 30.

Currently, there is no specific cure. Men with Klinefelter syndrome still have a chance to have children through assisted reproductive technologies. However, if the condition is detected too late, they may need to rely on donated sperm to conceive.

Dr. Phuoc advises men over 18 to proactively undergo a semen analysis once a year to monitor sperm quality and quantity, and to prevent Klinefelter syndrome. If abnormalities are detected, semen analysis should be performed more frequently, approximately every 3-6 months, to avoid prolonged delay that could lead to complete sperm depletion.

Men should maintain a healthy lifestyle, limit alcohol consumption, quit smoking, exercise regularly, and avoid prolonged sitting in front of a computer. Patients with varicocele should seek treatment when there are signs of testicular problems or impaired sperm quality.

Thang Vu

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