Most men who have Klinefelter syndrome can expect to have a normal and productive life. Testosterone therapy is used to increase strength, promote muscular development, grow body hair, improve mood and self esteem, increase energy and improve concentration. We remove all identifying information when posting a question to protect your privacy. You may want to review these resources with a medical professional. She was rumored to have a rare genetic disorder which gave her an advantage in sports over the others, but it was later diagnosed as klinefelter’s syndrome. There are 2 types of chromosome, called the … Delayed or incomplete puberty with lack of secondary sexual characteristics resulting in sparse facial, body, or sexual hair a high-pitched voice and body fat distribution resulting in a rounder, lower half of the body, with more fat deposited in the hips, buttocks and thigh instead of around the chest and abdomen, Abnormal body proportions (long legs, short trunk, shoulder equal to hip size), Opening (meatus) of the urethra (the tube that carries urine and sperm through the penis to the outside) on the underside of the penis (hypospadias) instead of the tip of the head of the penis, Social, psychologic and behavioral problems, Testosterone replacement:  About half of people with SK have low testosterone levels, which may be raised by taking supplemental testosterone. This famous athlete was born as a female in South Africa. In this variation, some of the cells in the male's body have an additional X chromosome, and the rest have the normal XY chromosome count. Mendelian disorders are controlled by a single locus and follow Mendel's laws of inheritance. They can direct you to research, resources, and services. The existence of an extra X chromosome takes place when the genetic element splits unevenly in the egg. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. (This is written as XX.) Also Refer: Mendelian Disorders in Humans Let us learn more details about the Klinefelter syndrome, its causes, symptoms and available treatment. Causes Of Klinefelter Syndrome. All above mentioned disorders are caused by mutation in single gene locus and are inherited according to Mendel's law; hence these are Mendelian disorders. Do you know of a review article? Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. Often, symptoms are subtle and subjects do not realize they are affected. Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. It occurs because of a random additional chromosome in the egg, sperm, or fetus. Men who have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's syndrome. This section shows many of the possible symptoms associated with Klinefelter Syndrome, which is a spectrum disorder. The results of one study on non-. The extra X chromosome typically affects physical, neurodevelopmental, behavioral, and neurocognitive functioning. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. Klinefelter syndrome (KS) is one of the most common genetic causes of male infertility. Down syndrome is the only autosomal trisomy in humans that has a substantial number of survivors one year after birth. Living with a genetic or rare disease can impact the daily lives of patients and families. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Even though Klinefelter syndrome is a genetic disorder, it is not passed down through families. If you do not want your question posted, please let us know. In simple words, the Klinefelter syndrome meaning is that males usually are born with an X chromosome and a Y chromosome. Endodontic treatment in three taurodontic teeth associated with 48,XXXY Klinefelter syndrome: A review and case report. We want to hear from you. But Turner's syndrome is monosomy caused by absence of one copy of X-chromosome in females. Research Portfolio Online Reporting Tool (RePORT), Eunice Kennedy Shriver National Institute of Child Health and Human Development, Association for X and Y Chromosome Variations (AXYS). Males have an X and a Y chromosome (written as XY). ... mal disorder, with a prevalence of 1 : 600, and it is a frequent form of male hypogonadism and infertility (Lanfranco et al., Women who have pregnancies after age 35 have a slightly increased chance of having a boy with this syndrome. In some cases, low-level mosaicism may be missed. Trisomy in chromosome 21 is the cause of Down syndrome; it affects 1 infant in every 800 live births. This section provides resources to help you learn about medical research and ways to get involved. Klinefelter Syndrome Klinefelter syndrome is one of the genetic disorders in males. Contact a GARD Information Specialist. People with Klinefelter syndrome can experience breast growth, breast cancer, osteoporosis, infertility and learning difficulties. Klinefelter Syndrome or XXY is a condition that occurs in 1 in 500 live male births. The most common symptom is infertility. klinefelter syndrome (xxy genotype) this sex chromosome disorder of males is usually treated with testosterone therapy (the men have feminine features) ... type of single gene mendelian disorder that is the mutation of an autosomal recessive gene. Klinefelter syndrome is associated with an increased risk for breast cancer, a rare tumor called extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis. Additional Resources for Klinefelter Syndrome, Genetics Home Reference: Klinefelter syndrome, American Association for Klinefelter Syndrome Information and Support. Klinefelter syndrome (KS) is the most frequent chromosome disorder in males (1:650 newborn males), defined by 47,XXY karyotype. Many but not all males with 47, XXY may develop signs and symptoms (features) of Klinefelter syndrome (KS) during their teen and adult years. The chromosome analysis looks at a number of cells, usually at least 20, which allows for the diagnosis of genetic conditions in both the full and mosaic state. Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47,XXY karyotype. Having a more normal testosterone level can help affected people develop bigger muscles, a deeper voice, and facial and body hair, and may also increase sexual desire, enlarge the. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. She won the Olympic Gold medal for her country in the year 2016. Klinefelter syndrome Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. This may include examining the genital area and chest, performing tests to check reflexes, and assessing development and functioning.The main tests used to diagnose Klinefelter syndrome are: 1. KS patients have an … Klinefelter syndrome is a frequent cause of hypogonadism, but despite hundreds of publications on different aspects of Klinefelter syndrome, only a few studies dealt with sexual dysfunction. Klinefelter syndrome is a trisomy genetic disorder in males caused by the presence of one or more X chromosomes. Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. Hormone testing. About half of the time the error occurs in the formation of sperm, while the remainder are due to errors in egg development. In this procedure, a small blood sample is drawn. These resources can help families navigate various aspects of living with a rare disease. 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