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What Are the Causes of Klinefelter Syndrome?

Klinefelter syndrome is a rare genetic condition that involves the presence of an extra sex chromosome, usually the "X" chromosome. The syndrome typically effects individuals who identify as male and have male sexual characteristics as children. When the child matures, he may develop features typically associated with women, including enlarged breasts. Klinefelter syndrome is not an extremely common ailment and is relatively rare. It was discovered and named in 1942 by Dr. Harry Klinefelter.

  1. About

    • According to Robert Block of the National Institutes of Child Health and Human Development, Klinefelter syndrome is an ailment that significantly affects young men in their adolescence. It is an ailment in which the male has an extra "X" chromosome. As a result, the usual configuration of sex chromosomes is XXY, instead of the normal XY. Children with this disorder develop breasts, but have small testes, little facial and body hair.

    Causes

    • According to the Mayo Clinic, an extra X chromosome is inherited from one of the parents in individuals with Klinefelter syndrome. Since this disorder is not inherited and is not passed through families, it is an entirely chance event that affects the developing embryo. Researchers report that the age of the mother does not make a difference, unlike other chromosomal disorders.

    Risk Factors

    • There are very few risk factors for having a child with Klinefelter disorder according to the Mayo Clinic. Since it is an entirely arbitrary event and is not related to the health or age of either parent, there is almost no way to predict whether a child will develop this disorder. In many cases, Klinefelter is not diagnosed until adolescence, when children begin to develop secondary sex characteristics.

    Complications

    • The complications of Klinefelter disorder are significant. According to the Mayo Clinic, children with this disorder rarely mature into males that can father children in their later years. Additionally, males with Klinefelter are prone to osteoporosis because of weak bones that may be prone to breaking. Individuals with this condition are also prone to illnesses that are more common in women, such as breast cancer.

    Treatments

    • According to National Institute of Child Health and Human Development, regular testosterone treatments are the most effective remedies. Testosterone helps in the development of secondary male sex characteristics, such as the development of facial and body hair, deepening of voice and growing and dropping of the testicles. While males who undergo testosterone treatment may not be able to father children, they can have the appearance and characteristics of unaffected males. Patients must continue to receive testosterone treatment to maintain the secondary characteristics.

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