What is Klinefelter Syndrome?
Klinefelter syndrome is a genetic abnormality in which boys have an extra X chromosome in some of their cells. Instead of the normal male chromosome pattern of XY, boys with Klinefelter syndrome have XXY. The extra X chromosome codes for female characteristics and diminishes the production of testosterone, the male hormone. Compared with males with a normal XY pattern, males with Klinefelter syndrome have reduced strength and muscle coordination, less facial and body hair growth, broader hips, development of breast issue (gynecomastia), weaker bones and low energy level. Adult men with Klinefelter syndrome may be taller than normal men and may have a low libido and low sperm count. Socially, boys with Klinefelter syndrome tend to be quiet, shy and lacking in confidence. Not all boys with Klinefelter syndrome, though, exhibit all symptoms, and many show no symptoms.
Testosterone Replacement Therapy
Klinefelter syndrome is a lifelong condition. No treatment can correct the chromosomal abnormality, but the symptoms may be treated. Testosterone replacement therapy (TRT) brings testosterone levels into the normal range and corrects the effects of hormone deficiency. TRT produces the development of secondary male sex characteristics, such as facial and body hair growth, deepening voice and muscle development, and supports bone formation. Hormone supplementation also raises energy levels and improves self-confidence. TRT begins in adolescence, typically by age 12 or 14. The hormone may be delivered as an injection or as a gel or cream applied topically to the arms, chest, back or shoulders. Testosterone creams may also be applied to the scrotal skin. TRT injections begin with a 50 mg dose once a month, with doses increasing gradually as the boy matures to mimic the increased testosterone production as the body develops during puberty. Creams and gels may be more convenient because they can be applied at home. Furthermore, creams and gels provide a more consistent dose of testosterone than monthly injections. Creams applied to the scrotum are quickly absorbed and result in higher blood levels of testosterone than preparations applied to other body areas.
Risks of Testosterone Therapy
Avoid applying gel preparations to the scrotum. They are alcohol-based and may irritate the sensitive skin. Excess testosterone doses may cause frequent or persistent erections (priapism), increased appetite, nausea and vomiting, ankle swelling, acne, headache or gynecomastia. Side effects are unlikely to occur with cream or gel preparations because testosterone levels remain within normal ranges with no spikes. Long-term TRT may cause benign prostatic hyperplasia, prostate cancer, coronary heart disease, or increased red blood cells. TRT is not recommended for men with breast or prostate cancer, or those with liver, kidney or heart disease.
Tags: Klinefelter syndrome, with Klinefelter, with Klinefelter syndrome, , boys with Klinefelter