Chromosomes are packages of genes found in every cell in the body. This is called taurodontism. To minimise the risk of type 2 diabetes, it is particularly important that a healthy diet is maintained. He remains well aware of the challenges. They can direct you to research, resources, and services. In many cases, it's only detected if a man with the condition undergoes fertility tests. This genetic disorder is se… The X chromosome is not a "female" chromosome and is present in everyone. 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. Regular exercise is also likely to help. 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. 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. XXY (Klinefelter syndrome): A pediatric quantitative brain magnetic Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast … Inclusion on this list is not an endorsement by GARD. 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. In the countenance of the patient, both eyes were far apart from each other. Klinefelter syndrome Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. It can be taken in the form of gels or tablets in teenagers, or given as gel or injections in adult men. It is estimated that 1 in every 500 to 1,000 newborn males has an extra X chromosome, making Klinefelter syndrome one of the most common chromosomal disorders seen among newborns. Contact a GARD Information Specialist. 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. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Explore more: Klinefelter syndrome You should see a specialist in children's hormones (a paediatric endocrinologist) at this time. Klinefelter syndrome (KS) is the most frequent chromosome disorder in men, exhibiting a karyotype of 47,XXY. expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. 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. If you have a son with the condition, the chances of this happening again are very small. The presence of a Y chromosome denotes male sex. http://www.nichd.nih.gov/health/topics/klinefelter/Pages/default.aspx, http://ghr.nlm.nih.gov/condition=klinefeltersyndrome, http://www.nlm.nih.gov/medlineplus/ency/article/000382.htm, http://emedicine.medscape.com/article/945649-overview, http://rarediseases.org/rare-diseases/klinefelter-syndrome/, http://ghr.nlm.nih.gov/condition/klinefelter-syndrome. Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. This syndrome is found in 1 out of 1000 males. Klinefelter syndrome is an under diagnosed chromosomal disorder with important challenges for health and medical management. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. Several forms of therapy such as physical, speech, occupational, behavioral, mental health, and family therapy can often help reduce or eliminate some of the symptoms of Klinefelter syndrome such as poor muscle tone; speech and language problems; or low self-confidence. Conclusions: Our results confirm the higher prevalence of taurodontism in Klinefelter's patients compared to the normal population (12.5% vs. 2.0%). This change in the egg or sperm seems to happen randomly. Many boys and men do not realise they have it. Giedd JN, Clasen LS, Wallace GL, Lenroot RK, Lerch JP, Wells EM, et al. Success in that realm rarely comes without a great struggle for those with Klinefelter syndrome. Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. 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. Generally, a primary molar tooth or body of molar is long, but for Taurodont teeth, the marrow space gets longer, and the teeth have short roots. Due to the wide discrepancy of incidence of taurodontism reported in literature (0.04%-48.0% in normal population; 12.5%-88.0% … 1. 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). Research helps us better understand diseases and can lead to advances in diagnosis and treatment. “People with Klinefelter syndrome have executive function issues, so things, like getting to class on time and managing time … 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,… and 4 unilaterally. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Klinefelter's syndrome is named after Harry F. Klinefelter (cline-felter) who first described the syndrome in the USA in 1942. Klinefelter Syndrome affects 1 in 500 male conceptions and is therefore the most common sex chromosome abnormality. Often, symptoms are subtle and subjects do not realize they are affected. Usually, a female baby has 2 X chromosomes (XX) and a male has 1 X and 1 Y (XY). These are named either X or Y. It results in small testes, testosterone deficiency, infertility and often in swelling of glandular breast tissue (gynecomastia). The results of one study on non-. Living with a genetic or rare disease can impact the daily lives of patients and families. Normally a person, whether male or female, has a total of 46 chromosomes in … 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. Vertical enlargement of the molar pulp chamber was termed taurodontism (“bull-like” teeth) by Keith (1913). There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. This is called taurodontism. The diagnosis can be confirmed by checking a sample of blood for the presence of the extra X chromosome. Oznurhan: Treatments of Klinefelter syndrome 24 Taurodontic teeth could be a clinical sign of this syndrome and the pediatric dentist should refer for chromosome analysis. We experienced a case of Klinefelter's Syndrome with congenital heart disease in a 3-year,8month old boy. If you do not want your question posted, please let us know. Results: Taurodont teeth were observed in 2 of the 16 Klinefelter's patients (12.5%) and in 2 of 100 normal males (2.0%). Variants of Klinefelter syndrome (such as 48,XXXY, 49,XXXXY) are much rarer, occurring in 1 in 50,000 to 1 in 85,000 or fewer newborns. We want to hear from you. 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). Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. raija.lahdesmaki@oulu.fi Poly-KS males might also show slight differences in other physical features. This can be seen on dental x-rays. Klinefelter syndrome is a chromosomal disorder wherein there is an extra X chromosome in the cells of the affected males. Klinefelter syndrome is quite common, affec… Next review due: 20 May 2022, inability to have children naturally (infertility), underactive thyroid gland (hypothyroidism), in babies and toddlers – learning to sit up, crawl, walk and talk later than usual, being quieter and more passive than usual, in childhood – shyness and low self-confidence, problems with reading, writing, spelling and paying attention, mild, in teenagers – growing taller than expected for the family (with long arms and legs), broad hips, poor muscle tone and slower than usual muscle growth, reduced facial and body hair that starts growing later than usual, a small penis and testicles, and, autoimmune disorders (where the immune system mistakenly attacks the body), such as, speech and language therapy during childhood to help with speech development, educational and behavioural support at school to help with any learning difficulties or behaviour problems, psychological support for any mental health issues. Do you know of a review article? Your GP may suspect Klinefelter syndrome after a physical examination and may suggest sending off a sample of blood to check reproductive hormone levels. These resources provide more information about this condition or associated symptoms. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone production), small and/or undescendent testes (cryptorchidism), enlarged breast tissue (gynecomastia), tall stature, and/or inability to have biological children (infertility), as well as an abnormal opening of the penis (hypospadias), and an small penis (micropenis). Every male cell consists of 44 autosomes and XY sex chromosome. This section provides resources to help you learn about medical research and ways to get involved. 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). At the time of diagnosis, a complete dental and orthodontic examination will screen for any such abnormalities. Klinefelter syndrome (KS) is the most common chromosomal abnormality in humans. Klinefelter syndrome also increases the risk of: Attention deficient hyperactivity disorder (ADHD) Autoimmune disorders, such as lupus, rheumatoid arthritis, and Sjögren syndrome; Breast cancer in men; Depression The primary features are infertility and small poorly functioning testicles. There's no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary. Klinefelter syndrome (KS) is the most common chromosomal abnormality in humans. Klinefelter syndrome results in the formation of sperm or the egg and people with this syndrome are prone to tremors, osteoporosis and autoimmune disorders. This is called taurodontism. 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. Klinefelter syndrome’s impact on oral health is manifested in enlarged teeth with a thinning surface. Previous studies on the sex chromosome Root lengths in the permanent teeth of Klinefelter (47,XXY) men. Normally, males have the XY chromosome pattern. Klinefelter syndrome is a genetic condition that affects males physical, behavioral, and cognitive development and functioning. Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. Try our interactive tool for help finding information, services, experts, financial aid, and more! Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Klinefelter syndrome does not usually cause any obvious symptoms early in childhood, and even the later symptoms may be difficult to spot. Infertility tends to be the main problem, although there are treatments that can help. This is called taurodontism and can be seen on dental x-rays. We want to hear from you. Close menu. We remove all identifying information when posting a question to protect your privacy. 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. Abstract. Klinefelter syndrome is not necessarily anything serious, but treatment can help reduce some of the symptoms if necessary. Genetics Education Materials for School Success (GEMSS), National Human Genome Research Institute's. It is caused by the development of one or more copies of the X chromosome in the cells. In patients with this kind of disorder, their chromosome pattern is XXY pattern. Questions sent to GARD may be posted here if the information could be helpful to others. Klinefelter syndrome is caused when a male baby is born with more than required or extra X chromosomes. You may want to review these resources with a medical professional. (Y Komatz, 1978) T… Menu TRT involves taking medicines containing testosterone. Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. This is … The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. In this variant of the multirooted human teeth in which the body of the tooth is increased at the expense of the roots, as regularly seen in cattle, the teeth characteristically have a prismatic shape (Heider and Wedl 1869). This paper presents a seven-year old patient with Klinefelter Syndrome with dental treatment needs. This chromosome carries extra copies of genes, which interfere with the development of the testicles and mean they produce less testosterone (male sex hormone) than usual. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). Educational interventions: As children, many people with Klinefelter syndrome qualify for special services to help them in school. 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. Often males affected by this genetic condition experience reduced testosterone production due to the small size of testicles and penis. See your GP if you have concerns about your son's development or you notice any troubling symptoms of Klinefelter syndrome in yourself or your son. Taurodontism may occur as one of many dentofacial manifestations of KS and can be detected before development of other physical characteristics. 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. 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. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) We want to hear from you. There are 2 types of chromosome, called the … It is found in multi-rooted teeth and it is characterized radiologically by short roots, elongated body and enlarged pulp chamber. Do you have updated information on this disease? Teachers can also help by using certain methods in the classroom, such as breaking bigger tasks into small steps. The following websites may be able to help: Page last reviewed: 20 May 2019 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. Nevertheless, frequent characteristics are small testes, azoospermia and hypergonadotropic hypogonadism. rare disease research! Do you know of an organization? REFERENCES 1. About one of every 500 males has an extra X chromosome, but many don't have any symptoms. Have a question? Klinefelter syndrome is caused by an additional X chromosome. Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. 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. About 40% of patients have taurodontism, a dental finding characterized by enlargement of the molar teeth by an extension of the pulp. In childhood, they may also have seizures, crossed eyes, constipation, and recurrent ear infections. Chromosomes are packages of genes found in every cell in the body. Identification of patients with taurodontic teeth may lead to early recognition of the disorder and could substantially improve quality of life. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. One in around 500 males have an extra X chromosome, but only one in every 1000 males suffers from this syndrome. Klinefelter syndrome affects around 1 in every 660 males. This can be seen on dental x-rays. Visit the group’s website or contact them to learn about the services they offer. 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. These resources can help families navigate various aspects of living with a rare disease. Symptoms in KS are highly variable. Males with poly-X Klinefelter syndrome have more than one extra X chromosome, so their symptoms might be more pronounced than in males with KS. Klinefelter syndrome is not directly inherited – the additional X chromosome occurs as a result of either the mother's egg or the father's sperm having the extra X chromosome (an equal chance of this happening in either), so after conception the chromosome pattern is XXY rather than XY. The in-depth resources contain medical and scientific language that may be hard to understand. Klinefelter syndrome is one of the unique developmental disabilities that mainly affect males. TRT may be considered once puberty begins and may help with the development of a deep voice, facial and body hair, an increase in muscle mass, reduction in body fat, and improvement in energy. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. Not all males who have the extra X sex chromosome suffer from this syndrome. There is also evidence that it can help with learning and behavioural problems. [i] It is a genetic disorder that only affects male. 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. 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. Of the 6 Klinefelter's syndrome patients with taurodontism, 2 were affected bilaterally (Fig.) This can be seen on dental x-rays. In Turner Syndrome it is common to see abnormal dental health development. Boys and men with Klinefelter syndrome are still genetically male and often will not realize they have this extra X chromosome (47, XXY), but occasionally it can cause problems that may require treatment, problems such as a small penis, small testes and infertility. But in Klinefelter syndrome, a boy is born with an extra copy of the X chromosome (XXY). Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Klinefelter syndrome occurs if boys are born with an extra X chromosome. Symptoms ... Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. You can help advance Or associated symptoms or tablets in teenagers, or given as gel injections!: //rarediseases.org/rare-diseases/klinefelter-syndrome/, http: //ghr.nlm.nih.gov/condition/klinefelter-syndrome XXY pattern they are affected you connect with other patients and.... 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