|  | Conditions Treatments | Genetic Disorders

Klinefelter's Testosterone Treatment

Males with Klinefelter's syndrome inherit extra X (female) or Y (male) chromosomes, with the most frequent inheritance pattern an extra female chromosome (47XXY). Boys may have slow language development and learning disabilities, though most are not diagnosed until puberty, when they fail to develop male secondary sexual characteristics because of insufficient testosterone. The syndrome can also develop in adulthood and become apparent as a result of infertility and/or lack of libido. Males who are affected by Klinefelter's are usually tall and thin with exceptionally long arms, sparse body hair and small testes. They may also have small penises and gynecomastia (enlarged breasts).

  1. Initial Treatment

    • According to the Mayo Clinic, treatment with testosterone should begin at the onset of puberty (about age 14) so that boys develop more normally. Because there is a wide variety of what is considered normal development, Klinefelter's syndrome may not be obvious. Accordingly, many males are not diagnosed until adulthood. However, males at any age can benefit from testosterone, and treatment should begin with diagnosis.

    Injection/Implantation

    • According to the rxlist.com, Delatestryl injections can provide adequate testosterone. Dosages and treatment plans vary, but it is usually administered every two to four weeks. Subcutaneous (under the skin) implantation of testosterone pellets every three to six months is an alternative to regular injections.

    Gel

    • AndroGel is a testosterone gel applied to the skin of the arms and shoulders or abdomen each morning; however, children or women who touch the skin with the gel may absorb testosterone and begin to develop increased body hair, acne or other adult male characteristics. AndroGel can also be dangerous to a developing fetus. Thus, this form of treatment is best for males without partners.

    Transdermal Patch

    • According to rxlist.com, another therapy is the testosterone transdermal patch Androderm, which should be applied to the skin of the back, thighs, abdomen or upper arms each evening between 8 p.m. and midnight. The patch may cause some local irritation, which can be treated with hydrocortisone cream, and should be rotated to different sites so that it's not placed in the same spot for at least a week. Males should not place the patch on the genital area or areas where it might receive prolonged pressure from sitting of sleeping. The patch has a covering that prevents transfer of testosterone to a partner.

    Significance

    • Testosterone increases body hair and penis size, providing a more male physique and increasing confidence. However, the testes do not grow, and most males remain infertile. About a third of those with Klinefelter's syndrome develop gynecomastia. If breast enlargement is pronounced, the extra breast tissue may be surgically removed.

    Warning

    • Testosterone levels should be monitored carefully, especially in adolescent boys. Testosterone affects bone maturation, so skeletal assessments should be done every six months during adolescence. This treatment can also increase the risk of developing benign prostatic hyperplasia, or benign prostate enlargement, so men receiving long-term care should have regular prostate exams.

Genetic Disorders - Related Articles