In Turner Syndrome it is common to see abnormal dental health development. Do you know of a review article? About 40% of patients have taurodontism, a dental finding characterized by enlargement of the molar teeth by an extension of the pulp. You may want to review these resources with a medical professional. Root lengths in the permanent teeth of Klinefelter (47,XXY) men. This is called taurodontism. Have a question? 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. âPeople with Klinefelter syndrome have executive function issues, so things, like getting to class on time and managing time ⦠Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. 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 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. Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Klinefelter syndrome results in the formation of sperm or the egg and people with this syndrome are prone to tremors, osteoporosis and autoimmune disorders. In patients with this kind of disorder, their chromosome pattern is XXY pattern. Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. This can be seen on dental x-rays. 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). This is called taurodontism. Abstract. Due to the wide discrepancy of incidence of taurodontism reported in literature (0.04%-48.0% in normal population; 12.5%-88.0% ⦠Explore more: Klinefelter syndrome This is called taurodontism. 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. Klinefelter syndrome is not necessarily anything serious, but treatment can help reduce some of the symptoms if necessary. Identification of patients with taurodontic teeth may lead to early recognition of the disorder and could substantially improve quality of life. Klinefelter syndrome is quite common, affec⦠expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. You should see a specialist in children's hormones (a paediatric endocrinologist) at this time. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. It is caused by the development of one or more copies of the X chromosome in the cells. 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 bullâs head with horns on x-ray images of teeth, hence named after Taurus the bull. Conclusions: Our results confirm the higher prevalence of taurodontism in Klinefelter's patients compared to the normal population (12.5% vs. 2.0%). Regular exercise is also likely to help. Nevertheless, frequent characteristics are small testes, azoospermia and hypergonadotropic hypogonadism. Klinefelter syndromeâs impact on oral health is manifested in enlarged teeth with a thinning surface. Results: Taurodont teeth were observed in 2 of the 16 Klinefelter's patients (12.5%) and in 2 of 100 normal males (2.0%). 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 syndrome is caused when a male baby is born with more than required or extra X chromosomes. Chromosomes are packages of genes found in every cell in the body. 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. Klinefelter syndrome is an under diagnosed chromosomal disorder with important challenges for health and medical management. The presence of a Y chromosome denotes male sex. Of the 6 Klinefelter's syndrome patients with taurodontism, 2 were affected bilaterally (Fig.) XXY (Klinefelter syndrome): A pediatric quantitative brain magnetic 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 is caused by an additional X chromosome. The incidence of diabetes type 1 and 2 associated with Klinefelterâs Syndrome (KS) is significantly higher than in the general population, although the reason for this isnât fully understood. Klinefelter syndrome is one of the unique developmental disabilities that mainly affect males. The diagnosis can be confirmed by checking a sample of blood for the presence of the extra X chromosome. There are 2 types of chromosome, called the ⦠(Y Komatz, 1978) T⦠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). and 4 unilaterally. These resources provide more information about this condition or associated symptoms. One in around 500 males have an extra X chromosome, but only one in every 1000 males suffers from this syndrome. 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. Teachers can also help by using certain methods in the classroom, such as breaking bigger tasks into small steps. The in-depth resources contain medical and scientific language that may be hard to understand. This can be seen on dental x-rays. This can be seen on dental x-rays. 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. This section provides resources to help you learn about medical research and ways to get involved. We remove all identifying information when posting a question to protect your privacy. rare disease research! Taurodontism may occur as one of many dentofacial manifestations of KS and can be detected before development of other physical characteristics. 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). Usually, a female baby has 2 X chromosomes (XX) and a male has 1 X and 1 Y (XY). Your GP may suspect Klinefelter syndrome after a physical examination and may suggest sending off a sample of blood to check reproductive hormone levels. Many boys and men do not realise they have it. You can help advance Genetics Education Materials for School Success (GEMSS), National Human Genome Research Institute's. The X chromosome is not a "female" chromosome and is present in everyone. REFERENCES 1. There is also evidence that it can help with learning and behavioural problems. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. Menu Do you have updated information on this disease? 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. 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). If you do not want your question posted, please let us know. Infertility tends to be the main problem, although there are treatments that can help. raija.lahdesmaki@oulu.fi This genetic disorder is se⦠Symptoms ... Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. 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,⦠Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. Close menu. Giedd JN, Clasen LS, Wallace GL, Lenroot RK, Lerch JP, Wells EM, et al. About one of every 500 males has an extra X chromosome, but many don't have any symptoms. Try our interactive tool for help finding information, services, experts, financial aid, and more! [i] It is a genetic disorder that only affects male. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. 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's syndrome is named after Harry F. Klinefelter (cline-felter) who first described the syndrome in the USA in 1942. TRT involves taking medicines containing testosterone. Klinefelter Syndrome affects 1 in 500 male conceptions and is therefore the most common sex chromosome abnormality. Vertical enlargement of the molar pulp chamber was termed taurodontism (âbull-likeâ teeth) by Keith (1913). Poly-KS males might also show slight differences in other physical features. 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. This syndrome is found in 1 out of 1000 males. 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. 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. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. 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. Symptoms in KS are highly variable. Klinefelter syndrome is a chromosomal disorder wherein there is an extra X chromosome in the cells of the affected males. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. These resources can help families navigate various aspects of living with a rare disease. 1. The results of one study on non-. Klinefelter syndrome (KS) is the most common chromosomal abnormality in humans. It can be taken in the form of gels or tablets in teenagers, or given as gel or injections in adult men. We want to hear from you. Previous studies on the sex chromosome This change in the egg or sperm seems to happen randomly. Every male cell consists of 44 autosomes and XY sex chromosome. This is ⦠Often, symptoms are subtle and subjects do not realize they are affected. To minimise the risk of type 2 diabetes, it is particularly important that a healthy diet is maintained. Educational interventions: As children, many people with Klinefelter syndrome qualify for special services to help them in school. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external)
Klinefelter syndrome does not usually cause any obvious symptoms early in childhood, and even the later symptoms may be difficult to spot. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Klinefelter syndrome (KS) is the most frequent chromosome disorder in men, exhibiting a karyotype of 47,XXY. Questions sent to GARD may be posted here if the information could be helpful to others. 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. 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. Normally a person, whether male or female, has a total of 46 chromosomes in ⦠Normally, males have the XY chromosome pattern. We want to hear from you. This is called taurodontism and can be seen on dental x-rays. This paper presents a seven-year old patient with Klinefelter Syndrome with dental treatment needs. 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. The following websites may be able to help: Page last reviewed: 20 May 2019 Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. In the countenance of the patient, both eyes were far apart from each other. It is found in multi-rooted teeth and it is characterized radiologically by short roots, elongated body and enlarged pulp chamber. The primary features are infertility and small poorly functioning testicles. 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. We experienced a case of Klinefelter's Syndrome with congenital heart disease in a 3-year,8month old boy. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. We want to hear from you. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Klinefelter syndrome (KS) is the most common chromosomal abnormality in humans. Klinefelter syndrome is a genetic condition that affects males physical, behavioral, and cognitive development and functioning. Klinefelter syndrome occurs if boys are born with an extra X chromosome. At the time of diagnosis, a complete dental and orthodontic examination will screen for any such abnormalities. Klinefelter syndrome Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. But in Klinefelter syndrome, a boy is born with an extra copy of the X chromosome (XXY). 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. 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. Do you know of an organization? 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. In many cases, it's only detected if a man with the condition undergoes fertility tests. 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. 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. There's no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary. Visit the groupâs website or contact them to learn about the services they offer. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). If you have a son with the condition, the chances of this happening again are very small. 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. Success in that realm rarely comes without a great struggle for those with Klinefelter syndrome. Klinefelter syndrome affects around 1 in every 660 males. In childhood, they may also have seizures, crossed eyes, constipation, and recurrent ear infections. Contact a GARD Information Specialist. Not all males who have the extra X sex chromosome suffer from this syndrome. It results in small testes, testosterone deficiency, infertility and often in swelling of glandular breast tissue (gynecomastia). 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. 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. Often males affected by this genetic condition experience reduced testosterone production due to the small size of testicles and penis. He remains well aware of the challenges. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast ⦠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. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. 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. Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. Chromosomes are packages of genes found in every cell in the body. Inclusion on this list is not an endorsement by GARD. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. These are named either X or Y. They can direct you to research, resources, and services. 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. 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. 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. Living with a genetic or rare disease can impact the daily lives of patients and families. Wherein there is also evidence that it can help you learn about medical research and ways to get involved even! Tasks into small steps of gels or tablets in teenagers, or given as gel or injections in adult.. Chromosomes in males question to protect your privacy size of testicles and penis boys and that! The syndrome in the countenance of the molar teeth by an extension of the chromosome! Groups can help you learn about the services they offer most frequent chromosome disorder in men, a. 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