Klinefelter syndrome is a genetic condition where the male has an extra X chromosome, making an XXY combination instead of just XY. There are multiple variations of the condition in that it can have more than two X’s in the chromosomes of the cells. In general, it is characterized by infertility, sparse body hair, small testicles, and gynecomastia. The signs and symptoms vary and not every male with the condition is diagnosed until a noticeable sign or symptom appears.
Since Klinefelter syndrome causes decreased testicular size, the testes produce only little sperm, or in some cases, none. Since the Leydig cells in the testes are mainly affected in KS, the hormone testosterone is also decreased. In this case it produces some of the female-like secondary sex characteristics in males. A low testosterone level causes muscle weakness and porous bones. The Sertoli cells, which have a major role in the production of sperm cells (spermatogenesis) is also affected.
There may be a delayed puberty for those who have this condition, while others can only confirm the condition if they realize they are infertile. Not all cases of infertility are associated with Kleinfelter syndrome, as there are several factors, such as stress and drugs, which can cause infertility. Men with Kleinfelter’s syndrome can have decreased libido or sex drive.
What concerns men with this condition is their decreased muscle strength and mass, as the muscle is the basis of masculinity. What’s even more embarrassing for those with this condition is that their breast tissues are enlarged. There are other factors (not just Kleinfelter’s syndrome) that can cause gynecomastia. Any agent that causes hormonal imbalance, specifically a decrease in progesterone and an increase in estrogen-like hormones can cause an abnormal enlargement of breast tissues.
Enlargement of breast tissues occur because there is decreased testosterone in the blood, while there are increased levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH). These are hormones coming from the brain that signal the testes to produce and release testosterone.
Aside from the increased FSH and LH, there’s also an increased estradiol levels in the blood. Estradiol is not just produced by the sex glands, but also by the liver, fat, and other non-endocrine glands. It is also the main hormone in females that causes gynecomastia and an enhanced mood.
Because there is an increased level of estradiol in KS, males who have the condition are prone to cancer, specifically breast and prostate. This can be the reason that men with KS have lower life expectancy than that of the general population. Also, deaths can be caused by the blood clots that have formed, as estradiol affects the liver. It produces certain clotting factors, more than any other metabolic organ. Estradiol can also trigger the release of lipoproteins, which in excess can cause weight gain, high blood pressure, and heart disease.
It doesn’t mean that estrogen is a harmful hormone. It causes harm if the levels are higher than average and if it causes an imbalance with the other hormones.
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