klinefelter's syndrome

Klinefelter’s Syndrome is a chromosomal disorder in men, characterized by no sperm in the ejaculate or a low sperm count. Klinefelter's is a genetic disorder, meaning a man inherits it from his parents. In many cases sperm is still produced in the testes and can be retrieved with a testicular biopsy. Because this is an inherited condition, these patients should consult with a genetic counselor prior to attempting conception since some of the sperm will pass along an extra X chromosome. Chromosomal testing of the embryos is one option to enable these couples to have healthy children. Pre-implantation genetic diagnosis (PGD) can be used to check the chromosomes in embryos so that only healthy embryos are chosen for transfer.

symptoms

Physical signs such as small testes and small penis can suggest Klinefelter’s is present. Excess gonadotropins -- hormones that in men stimulate testicular function -- are another symptom of the condition. Children with Klinefelter’s may be slow learners and be tall and thin in stature.

cause

An extra X chromosome (XXY instead of XY) causes Klinefelter's. Advanced maternal age can increase the risk, however the syndrome can be paternally related.

treatment

Men with this syndrome usually require infertility treatment to have children. The focus of treatments is not to correct the syndrome, but to harvest any sperm the man has for use in assisted reproductive technologies such as intracytoplasmic sperm injection (ICSI). If this is not possible, using donor sperm is another option.

Seven percent of infertile men have some form of chromosomal abnormality. Ten to 15% of men with azoospermia (absence of sperm) will have an abnormality, compared to 5% of men with oligospermia (low sperm count) and only 1% of men with normal sperm counts. Two-thirds of these chromosomal abnormalities are XXY, Klinefelter's Syndrome.

Chromosomal abnormalities can be inherited, so the couple should have genetic counselling to understand the risk of passing this on to their offspring, as well as the increased risk of miscarriages.