What is the role of androgen replacement therapy in the treatment of Klinefelter syndrome?

Updated: Mar 23, 2020
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Androgen (testosterone) replacement therapy is an important aspect of treatment. Historically, testosterone replacement was started at puberty, around age 12 years, with the dose increased over time, until it was sufficient to maintain age-appropriate serum concentrations of testosterone, estradiol, follicle-stimulating hormone (FSH), and luteinizing hormone (LH). [33]  Currently, the Association for X and Y Chromosome Variations (AXYS) advocates for close monitoring of development and progression of puberty, in order to properly determine if and when testosterone treatment should be initiated. For some XXY males, gender counseling may be requested. [45]

Androgen replacement therapy corrects androgen deficiency; hence, the treatment promotes normalization of body proportions and development of normal male secondary sex characteristics. Regularly scheduled testosterone injections promote strength and facial hair growth; build a more muscular body type; increase sexual desire; enlarge the testes; improve mood, self-image, and behavior; and protect against precocious osteoporosis. In addition, there are the long-term beneficial effects of decreasing the risks of autoimmune disease and breast cancer. However, testosterone therapy does not treat infertility or gynecomastia. [33]

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