Klinefelter Syndrome
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What is Klinefelter syndrome?Klinefelter syndrome is a chromosomal condition that affects male sexual development. Most males with Klinefelter syndrome have one extra copy of the X chromosome in each cell. Because their testicles do not develop normally, affected males may have low levels of the hormone testosterone beginning during puberty. A lack of this hormone can lead to breast development (gynecomastia), reduced facial and body hair, and an inability to father children (infertility). Compared with other men, adult males with Klinefelter syndrome have an increased risk of developing breast cancer and a chronic inflammatory disease called systemic lupus erythematosus. Their chance of developing these disorders is similar to that of normal adult females. Boys with Klinefelter syndrome may have learning disabilities and difficulty with speech and language development. They tend to be quiet, sensitive, and unassertive, but personality characteristics vary among males with this condition. Variants of Klinefelter syndrome, which involve more than one extra X chromosome or extra copies of both the X and Y chromosomes in each cell, tend to have more severe signs and symptoms. These disorders affect male sexual development and are associated with decreased IQ, distinctive facial features, skeletal abnormalities, poor coordination, and severe problems with speech. How common is Klinefelter syndrome?Klinefelter syndrome affects 1 in 500 to 1,000 males. Variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer male births. Females are not affected by Klinefelter syndrome. What are the genetic changes related to Klinefelter syndrome?Klinefelter syndrome is a chromosomal condition related to chromosomes X and Y. People typically have two sex chromosomes in each cell; females have two X chromosomes, and males have one X chromosome and one Y chromosome. Klinefelter syndrome is caused by the presence of one or more extra copies of the X chromosome in a male's cells. Extra copies of genes on the X chromosome interfere with male sexual development, preventing the testicles from functioning normally and reducing the levels of testosterone. Most often, Klinefelter syndrome is caused by a single extra copy of the X chromosome, for a total of 47 chromosomes per cell. Males normally have one X chromosome and one Y chromosome in each cell (46,XY), but males with Klinefelter syndrome have two X chromosomes and one Y chromosome (47,XXY). Some males with Klinefelter syndrome have the extra X chromosome in only some of their cells; these cases are called mosaic 46,XY/47,XXY. Variants of Klinefelter syndrome are caused by several extra copies of the X chromosome or extra copies of both the X and Y chromosomes in all of the body's cells. The signs and symptoms of these conditions typically become more severe as the number of X chromosomes increases. Can Klinefelter syndrome be inherited?This condition is not inherited, but usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have one or several extra X chromosomes in each of the body's cells. Mosaic 46,XY/47,XXY occurs as a random error during cell division early in fetal development. As a result of this error, some cells have one X chromosome and one Y chromosome (46,XY), and other cells have an extra copy of the X chromosome (47,XXY).
Source: National Institutes of Health
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Research reports from University of Copenhagen provide new insights into hypogonadism therapy
2007 FEB 26 -- New investigation results, "Primary testicular failure in Klinefelter's syndrome: the use of bivariate luteinizing hormone-testosterone reference charts," are detailed in a study published in Clinical Endocrinology. According to recent research from Copenhagen, Denmark, "The diagnosis of androgen deficiency is based on clinical features and confirmatory low serum testosterone levels. In early primary testicular failure, a rise in serum LH levels suggests inadequate androgen action for the individual's physiological requirements despite a serum testosterone level within the normal range." "The combined evaluation of serum LH and testosterone levels in the evaluation of testicular failure has not been widely advocated. Seven hundred and six healthy males and 39 patients with known primary hypogonadism due to Klinefelter's syndrome and SRY-positive 46,XX karyotypes were included in the study. Testosterone, oestradiol and LH serum concentrations were measured in all individuals. Based on the 706 healthy males two-dimensional bivariate LH-testosterone reference charts were constructed. Despite a median serum total and free testosterone and oestradiol levels being reduced (p <0.001) and LH levels elevated (p <0.001) in Klinefelter's syndrome and 46,XX-males, many subjects (69%) had total testosterone within the reference range. However, using the bivariate charts all subjects lay outside the 97.5 percentile. Bivariate LH and testosterone charts are useful in the evaluation of men with known primary testicular failure due to sex chromosomal aneuploidy in whom evaluation based on testosterone measurement in isolation underestimates the prevalence of hypogonadism. It is, however, important to emphasize that isolated use of the bivariate evaluation should not form the basis for androgen substitution therapy," wrote L. Aksglaede and colleagues, University of Copenhagen. The researchers concluded: "Further studies are needed in order to evaluate the use of bivariate LH and testosterone charts in the assessment of any younger man with possible primary testicular failure." Aksglaede and colleagues published their study in Clinical Endocrinology (Primary testicular failure in Klinefelter's syndrome: the use of bivariate luteinizing hormone-testosterone reference charts. Clinical Endocrinology, 2007;66(2):276-81). For additional information, contact L. Aksglaede, University of Copenhagen, Dept. of Growth and Reproduction, Rigshospitalet, Copenhagen, Denmark. Publisher contact information for the journal Clinical Endocrinology is: Blackwell Publishing Ltd., 9600 Garsington Rd., Oxford OX4 2DG, Oxon, England. Keywords: Denmark, Copenhagen, Hypogonadism Therapy, Clinical Endocrinology, Drugs, Endocrinology, Genetics, Hypogonadism, Klinefelter Syndrome, Pharmaceuticals, Testosterone, Therapy, Treatment. This article was prepared by Biotech Business Week editors from staff and other reports. Copyright 2007, Biotech Business Week via NewsRx.com.
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