Klinefelter's Syndrome
The XCAT-KS test is based on the same proprietary genotyping method developed for our Turner Syndrome test. Our technology is effective in detecting the presence of heterzygocity of the X chromosome in males patients, signaling the presence of two X chromosome in effected males. We are in the process of optimizing this test and are on schedule to commencing the clinical validation of work for this test in 2Q 2010. We plan to have this buccal swab based test for Klinefelter Syndrome on the market in late 4Q 2010.
Klinefelter's syndrome (KS) is the constellation of symptoms associated with an extra sex chromosome, the 47, XXY karyotype, compared to the usual male configuration, XY. This group of symptoms, which include gynecomastia (breast enlargement), increased height, sparse facial and body hair; reduced sperm count, and diminutive testicular size, were originally observed in nine patients by Dr. Harry Klinefelter in 1942. Many men live with this abnormality and never become aware of the genetic difference physically or recognize the associated symptoms. Genetic screening for the chromosomal abnormality began in the 1970s in newborn males via organizations such as the National Institute of Child Health and Human Development. KS is not considered an inherited condition. About 25% of the expected incidence of KS is diagnosed in adulthood. Women who give birth to an infant with KS do not have a greater risk of recurrence in a later pregnancy than the risk in the general population.
Treatment
Testosterone: The primary clinical symptoms of KS are treatable. While surgery can correct gynecomastia, testosterone injections can correct hair loss and promote muscle mass. Testosterone supplementation should begin in puberty (optimally at age 11 or 12) but is also beneficial in adulthood. Hormonal screening can assess testosterone levels performed in the morning. The average male produces 4 to 7 mg of testosterone per day in a circadian pattern that peaks in the morning and is minimal in the evening. However, testicular size and sterility will not be affected by testosterone supplementation.
Testosterone can be administered as oral, buccal, injectable, and transdermal formulations. The typical dose is 200 mg every two weeks. If initiated during puberty, the dose is lowered to 50 to 100 mg every four weeks, then every two weeks until adulthood. Transdermal testosterone may not be an optimal option due to the scrotal surface area. It is also a more expensive formulation and is not well studied in patients younger than 18 years.