Since the diagnosis of klinefelter syndrome often occurs in puberty, plastic surgeons may be the first physicians in a position to diagnose the disorder. Recent advances in managing and understanding klinefelter. Klinefelter syndrome 47, xxy is a chromosomal variation in males in which one extra x chromosome is present, resulting in a xxy sex chromosome karyotype. This condition is not typically inherited from one parents. Clinical and research fellow division of endocrinology, diabetes and metabolism. The presence of only long lower extremities distinguishes klinefelter syndrome from the other forms of eunuchoidism that results in equally long upper and lower extremities. The metabolic syndrome is frequent in klinefelters.
Some men with klinefelter syndrome have no symptoms. The extra x chromosome can affect physical, developmental, behavioral, and cognitive functioning. Klinefelter syndrome ks, also known as 47, xxy is the set of symptoms that result from two or more x chromosomes in males. If you have problems viewing pdf files, download the latest version of adobe reader. Klinefelter syndrome, also known as xxy syndrome, is a genetic disorder that involves an additional x sex chromosome in males. Chromatinpositive klinefelters syndrome fertility and sterility. Accordingly, the aim of this study was to investigate measures of insulin sensitivity, the metabolic syndrome, and sex hormones in patients with klinefelter s syndrome and an agematched control group. Objective klinefelter s syndrome is associated with an increased prevalence of diabetes, but the pathogenesis is unknown. The primary features are infertility and small poorly functioning testicles. Medical management of klinefelter syndrome xxy in adults leen wehbeh m. Klinefelter syndrome, 4647, xxy or xxy syndrome is a disorder where the human males bear an extra x chromosome. Klinefelter syndrome ks with the karyotype 47,xxy is one of the commonest types of congenital chromosomal disorder in males, with an incidence of 0. Most men with klinefelter syndrome will be taller than average and have infertility. Many men live out their lives without ever even suspecting that they have an additional.
Pediatric endocrinology fact sheet klinefelter syndrome. Klinefelter syndrome ks is the most common sex chromosomal disorder with an estimated prevalence of 1 in 500 newborn boys lanfranco et al. Klinefelter syndrome is a genetic disorder that affects males. A 38yearold male was admitted to a mental hospital with an initial diagnosis of alcoholism and was found to have klinefelter s syndrome 47 chromosomes, xxv with anosmia. Klinefelter syndrome is a group of conditions affecting the health of males who are born with at least one extra x chromosome. Klinefelter syndrome 47,xxy pediatrics merck manuals. Prognostic value of the clinical and laboratory evaluation in patients with nonmosaic klinefelter syndrome who are receiving assisted reproductive therapy. Klinefelter syndrome occurs in about 1 in 500 to 1 in 1,000 boys. Treatment includes educational, therapeutic, and medical therapy.
Random x chromosome inactivation in patients with klinefelter. Note the long lower extremities as compared with the. Klinefelter syndrome is largely undiagnosed in the general population. Klinefelter syndrome nord national organization for. It affects sexual development and may lead to learning disabilities. Its occurs when a boy is born with one or more extra xchromosomes. To date, it remains unclear whether xci ratios are normally preserved in klinefelter syndrome ks patients with 47,xxy karyotype. Klinefelters syndrome and sexual offending a literature. Klinefelter syndrome an overview sciencedirect topics. Klinefelter syndrome ks ks describes a set of physical, language, and social development symptoms in males who have an extra x chromosome.
Klinefelter s syndrome is a sex chromosome abnormality affecting approximately 1 in men. Klinefelter syndrome is the most common sex chromosome disorder, occurring in about 1500 live male births. Note that there are no facial characteristics that suggest a. The syndrome was first identified and described in 1942 by harry fitch klinefelter jr. Early recognition and hormonal treatment of the disorder can substantially improve quality of life and prevent serious. Sign in below to access your subscription for full content. Klinefelter syndrome ks is a common genetic condition that is currently underdiagnosed. The ks story has been compiled by a person with klinefelter s syndrome karyotype. Gynecomastia is a common clinical finding but has many uncommon etiologies. D lsticular dysgenesis in the chromatinpositive syndrome of klinefelter has been described as occurring long before puberty. Klinefelters syndrome is the most common cause of testicular failure that results in impairments in both spermatogenesis andto a lesser extenttestosterone. It is congenital, which means it is present from birth. Klinefelter syndrome, also referred to as xxy condition, is a genetic disease. I have klinefelter syndrome and i was wondering if weight gain is a common problem.
Following the 1st international workshop on the klinefelter syndrome in 2010 juul et al. The objective of this study was to describe the prevalence of klinefelter syndrome ks prenatally and postnatally in denmark and determine the influence of mat. Characteristic clinical findings in men with klinefelter syndrome. The normal male chromosome arrangement is 46xy, but for men with klinefelter syndrome it is 47xxy. People with this condition are born with at least one extra x chromosome. Klinefelter syndrome, also known as xxy syndrome, is a condition in boys and men thats caused by an extra x chromosome. Boys normally have one x and one y chromosome, but most boys with klinefelter syndrome have two x and one y chromosome.
For language access assistance, contact the ncats public information officer. Medical management of klinefelter syndrome xxy in adults. Successful fertility treatment for klinefelters syndrome. Klinefelter syndrome is just one of many conditions associated with gynecomastia. Klinefelter syndrome ks is a common male chromosomal disorder 47, xxy that has been a topic of intrigue and inquiry since the 1940s, when it was first described 1. The effects of testosterone treatment in klinefelter s syndrome. In general females are characterized by the presence of two x chromosomes and males bear on x and one y chromosome but in the individuals. It is relatively common, occurring in about 1 of every 500 baby boys. It is a subject of interest because of its wide spectrum of clinical manifestations, which include certain physical features, cognitive delays, and azoospermia.
Xxy definition klinefelter syndrome is a chromosomal disorder that affects only males. Are there studies with ideas of how i could lose the extra weight. Prenatal and postnatal prevalence of klinefelter syndrome. Klinefelter syndrome is a genetic condition that occurs in males of all racial and ethnic backgrounds. The association of klinefelter s syndrome with congenital anosmia has not been reported previously. It is a condition in boys caused by the presence of an extra x chromosome. There have been suggestions that it is associated with a higher than average prevalence of sexual offending but to what extent does research evidence support this assertion. Mosaic or mosaicism mosaic or mosaicism donates the presence of two or morepopulations of cells with different genotypes in oneindividual who has developed from a single fertilized egg males with klinefelter syndrome may have a mosaic47,xxy46,xy constitutional karyotype and varyingdegrees of spermatogenic failure. It is relatively common, occurring in about 1 of every 500 baby. Outward signs of ks can be subtle, so symptoms often are not recognized, and may not be treated in a timely manner. Sometimes, symptoms are more prominent and may include weaker muscles, greater height.
For full access to this pdf, sign in to an existing account, or purchase an annual subscription. Klinefelter s syndrome is the most common genetic cause of human male infertility, but many cases remain undiagnosed because of substantial variation in clinical presentation and insufficient professional awareness of the syndrome itself. Learn more about klinefelter syndrome, including how it affects mens hormone health and what treatment options are available. Klinefelters syndrome karyotype xxy is a sporadic cause of testicular hypoplasia in bulls logue et al.
Klinefelter syndrome is the presence of two or more x chromosomes plus one y, resulting in a phenotypic male. The phenotype is broad, with physical, medical and psychosocial features ranging from mild to severe. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of. Klinefelter syndrome is the most common sex chromosome disorder in males. Men with klinefelter syndrome have an extra x chromosome. Often, symptoms may be subtle and many people do not realize they are affected. Can biological or clinical parameters predict testicular sperm recovery in 47,xxy klinefelter s syndrome patients. Case report case study of a patient presenting both type. Pdf klinefelter syndromea clinical update researchgate. Most boys with klinefelter syndrome have normal intelligence.
The syndrome was first identified and described in 1942 by harry fitch klinefelter. Klinefelter syndrome ks nichd eunice kennedy shriver. Symptoms include decreased testosterone levels, development of breasts, wider hips, and infertility. Klinefelter syndrome is a genetic chromosomal condition that only affects males. During the program, talks were presented by leading researchers in the. Although, xxy is common, the syndrome itself is uncommon. Variation in clinical presentation and insufficient awareness of this syndrome. Brain natriuretic peptide and fibroblast growth factor receptor 3 are transcriptional targets of shox 6, 7, and this knowledge may enhance our understanding of the phenotypic consequences of the syndrome. Although it has been stated that men born with klinefelter s syndrome have a greater risk of developing testicular cancer, a danish study did not show an overall increased risk of testicular cancer 1.
1621 1469 427 991 635 679 910 423 502 1509 1218 29 324 913 387 1600 476 285 1568 905 1355 1415 1291 186 895 702 1494 1462 1106 1131 1143 703