It results in small testes, testosterone deficiency, infertility and often in swelling of glandular breast tissue (gynecomastia). Skeletal malocclusion is caused by distortion of proper mandibular and/or maxillary growth during fetal development which, if untreated, may lead to dental deformities, bruxism, teeth-crowding, trismus,… Not all males who have the extra X sex chromosome suffer from this syndrome. It can be taken in the form of gels or tablets in teenagers, or given as gel or injections in adult men. Infertility tends to be the main problem, although there are treatments that can help. Klinefelter syndrome is an under diagnosed chromosomal disorder with important challenges for health and medical management. This is called taurodontism. It primarily affects the molar teeth at the back of the mouth and was named as such because it was thought to look like a bull’s head with horns on x-ray images of teeth, hence named after Taurus the bull. However, when the male body consists of 47 chromosomes instead of the usual 46, wherein the extra chromosome is an X sex chromosome, it results into a sex chromosome disorder called Klinefelter Syndrome. In patients with this kind of disorder, their chromosome pattern is XXY pattern. About 40% of patients have taurodontism, a dental finding characterized by enlargement of the molar teeth by an extension of the pulp. Questions sent to GARD may be posted here if the information could be helpful to others. Klinefelter Syndrome affects 1 in 500 male conceptions and is therefore the most common sex chromosome abnormality. Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. Klinefelter syndrome Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. At the time of diagnosis, a complete dental and orthodontic examination will screen for any such abnormalities. The incidence of diabetes type 1 and 2 associated with Klinefelter’s Syndrome (KS) is significantly higher than in the general population, although the reason for this isn’t fully understood. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Klinefelter syndrome is not necessarily anything serious, but treatment can help reduce some of the symptoms if necessary. (Y Komatz, 1978) T… In the countenance of the patient, both eyes were far apart from each other. 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 Â, Testosterone replacement:  About half of people with SK have low testosterone levels, which may be raised by taking supplemental testosterone. But in Klinefelter syndrome, a boy is born with an extra copy of the X chromosome (XXY). Possible features, which are not always present, may include: Most boys and men with Klinefelter syndrome will not be significantly affected and can live normal, healthy lives. Chromosomes are packages of genes found in every cell in the body. XXY (Klinefelter syndrome): A pediatric quantitative brain magnetic But the risk of a woman having a son with Klinefelter syndrome may be slightly higher if the mother is over 35 years of age. Klinefelter syndrome occurs if boys are born with an extra X chromosome. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). Visit the group’s website or contact them to learn about the services they offer. In childhood, they may also have seizures, crossed eyes, constipation, and recurrent ear infections. This can be seen on dental x-rays. This syndrome is found in 1 out of 1000 males. Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. This can be seen on dental x-rays. The primary features are infertility and small poorly functioning testicles. This is … The following websites may be able to help: Page last reviewed: 20 May 2019 Nevertheless, frequent characteristics are small testes, azoospermia and hypergonadotropic hypogonadism. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. But men with Klinefelter syndrome are at a slightly increased risk of developing other health problems, including: These problems can usually be treated if they do occur and testosterone replacement therapy may help reduce the risk of some of them. Identification of patients with taurodontic teeth may lead to early recognition of the disorder and could substantially improve quality of life. Have a question? ter's syndrome patients (19.4%), while it wasseen in 2.1% of the control males and 4.8% of the control females, indicating a significantly higher ratio in the Klinefelter's syndrome group (Table 1). He remains well aware of the challenges. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. It is found in multi-rooted teeth and it is characterized radiologically by short roots, elongated body and enlarged pulp chamber. Conclusions: Our results confirm the higher prevalence of taurodontism in Klinefelter's patients compared to the normal population (12.5% vs. 2.0%). Klinefelter syndrome is caused when a male baby is born with more than required or extra X chromosomes. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast … Do you have updated information on this disease? Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. If you do not want your question posted, please let us know. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. There is also evidence that it can help with learning and behavioural problems. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. Do you know of an organization? To minimise the risk of type 2 diabetes, it is particularly important that a healthy diet is maintained. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) Almost one-half of men with KS have taurodontism (pronounced tawr-oh-DAWNT-iz-uhm), a dental problem in which the teeth have larger-than-normal chambers for holding pulp (the soft tissue that contains nerve endings and blood vessels) and shorter-than-normal tooth roots, both of which make it easier for tooth decay to develop. Contact a GARD Information Specialist. Explore more: Klinefelter syndrome We want to hear from you. Close menu. Your GP may suspect Klinefelter syndrome after a physical examination and may suggest sending off a sample of blood to check reproductive hormone levels. Regular exercise is also likely to help. TRT involves taking medicines containing testosterone. Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. Root lengths in the permanent teeth of Klinefelter (47,XXY) men. If you or your son has been diagnosed with Klinefelter syndrome, you might find it useful to find out more about it and get in touch with others affected by it. Poly-KS males might also show slight differences in other physical features. By now various dental features in these patients have been reported but to our knowledge this is the first report of multiple impacted teeth in the Klinefelter syndrome. Inclusion on this list is not an endorsement by GARD. Genetics Education Materials for School Success (GEMSS), National Human Genome Research Institute's. Klinefelter's syndrome is named after Harry F. Klinefelter (cline-felter) who first described the syndrome in the USA in 1942. Klinefelter syndrome is quite common, affec… They can direct you to research, resources, and services. The extra genetic information may either be carried in every cell in the body or it may only affect some cells (known as mosaic Klinefelter syndrome). These are named either X or Y. The presence of a Y chromosome denotes male sex. Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood.Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311, Babies with the 47, XXY form of Klinefelter differ little from healthy children. Klinefelter's syndrome; XXY syndrome; 47,XXY syndrome; Klinefelter's syndrome; XXY syndrome; 47,XXY syndrome; XXY trisomy, placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos. Symptoms ... Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. Boys and men with Klinefelter syndrome are still genetically male, and often will not realise they have this extra chromosome, but occasionally it can cause problems that may require treatment. expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. Lähdesmäki R(1), Alvesalo L. Author information: (1)Department of Oral Development and Orthodontics, Institute of Dentistry, University of Oulu and University Hospital of Oulu, Finland. Long-term treatment during adulthood may also help with several other problems associated with Klinefelter syndrome – including osteoporosis, low mood, reduced sex drive, low self-esteem and low energy levels – although it cannot reverse infertility. You to research, resources, and enlarged pulp chamber was termed taurodontism ( teeth. Quite common, affec… Root lengths in the body when a male baby born. 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