The primary features are infertility and small poorly functioning testicles. XXY (Klinefelter syndrome): A pediatric quantitative brain magnetic Klinefelter syndrome is caused by an additional X chromosome. There's no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary. Giedd JN, Clasen LS, Wallace GL, Lenroot RK, Lerch JP, Wells EM, et al. These resources provide more information about this condition or associated symptoms. Klinefelter syndrome is quite common, affec⦠Klinefelter syndromeâs impact on oral health is manifested in enlarged teeth with a thinning surface. It results in small testes, testosterone deficiency, infertility and often in swelling of glandular breast tissue (gynecomastia). If you do not want your question posted, please let us know. 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. This can be seen on dental x-rays. You should see a specialist in children's hormones (a paediatric endocrinologist) at this time. The diagnosis can be confirmed by checking a sample of blood for the presence of the extra X chromosome. We want to hear from you. Do you know of an organization? It can be taken in the form of gels or tablets in teenagers, or given as gel or injections in adult men. Often males affected by this genetic condition experience reduced testosterone production due to the small size of testicles and penis. âPeople with Klinefelter syndrome have executive function issues, so things, like getting to class on time and managing time ⦠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. Klinefelter syndrome (KS) is the most frequent chromosome disorder in men, exhibiting a karyotype of 47,XXY. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. This is called taurodontism and can be seen on dental x-rays. This section provides resources to help you learn about medical research and ways to get involved. He remains well aware of the challenges. 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. Often, symptoms are subtle and subjects do not realize they are affected. It is caused by the development of one or more copies of the X chromosome in the cells. Educational interventions: As children, many people with Klinefelter syndrome qualify for special services to help them in school. Questions sent to GARD may be posted here if the information could be helpful to others. and 4 unilaterally. Genetics Education Materials for School Success (GEMSS), National Human Genome Research Institute's. Normally, males have the XY chromosome pattern. Normally a person, whether male or female, has a total of 46 chromosomes in ⦠REFERENCES 1. Symptoms in KS are highly variable. There are 2 types of chromosome, called the ⦠This is called taurodontism. There is also evidence that it can help with learning and behavioural problems. 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. Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. In Turner Syndrome it is common to see abnormal dental health development. 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. 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. This paper presents a seven-year old patient with Klinefelter Syndrome with dental treatment needs. Chromosomes are packages of genes found in every cell in the body. Success in that realm rarely comes without a great struggle for those with Klinefelter syndrome. We remove all identifying information when posting a question to protect your privacy. 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. Infertility tends to be the main problem, although there are treatments that can help. Visit the groupâs website or contact them to learn about the services they offer. 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. Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. In the countenance of the patient, both eyes were far apart from each other. [i] It is a genetic disorder that only affects male. About 40% of patients have taurodontism, a dental finding characterized by enlargement of the molar teeth by an extension of the pulp. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast ⦠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. This change in the egg or sperm seems to happen randomly. Teachers can also help by using certain methods in the classroom, such as breaking bigger tasks into small steps. Close menu. Every male cell consists of 44 autosomes and XY sex 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. Results: Taurodont teeth were observed in 2 of the 16 Klinefelter's patients (12.5%) and in 2 of 100 normal males (2.0%). They can direct you to research, resources, and services. These resources can help families navigate various aspects of living with a rare disease. The following websites may be able to help: Page last reviewed: 20 May 2019 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. This can be seen on dental x-rays. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. Have a question? 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. Do you have updated information on this disease? Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. In childhood, they may also have seizures, crossed eyes, constipation, and recurrent ear infections. 1. This syndrome is found in 1 out of 1000 males. expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. Explore more: Klinefelter syndrome 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. 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 presence of a Y chromosome denotes male sex. rare disease research! 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. Chromosomes are packages of genes found in every cell in the body. In many cases, it's only detected if a man with the condition undergoes fertility tests. Conclusions: Our results confirm the higher prevalence of taurodontism in Klinefelter's patients compared to the normal population (12.5% vs. 2.0%). This is ⦠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. Of the 6 Klinefelter's syndrome patients with taurodontism, 2 were affected bilaterally (Fig.) Living with a genetic or rare disease can impact the daily lives of patients and families. 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). To minimise the risk of type 2 diabetes, it is particularly important that a healthy diet is maintained. One in around 500 males have an extra X chromosome, but only one in every 1000 males suffers from this syndrome. 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). We want to hear from you. This is called taurodontism. Klinefelter syndrome is one of the unique developmental disabilities that mainly affect males. Klinefelter syndrome is an under diagnosed chromosomal disorder with important challenges for health and medical management. Due to the wide discrepancy of incidence of taurodontism reported in literature (0.04%-48.0% in normal population; 12.5%-88.0% ⦠About one of every 500 males has an extra X chromosome, but many don't have any symptoms. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Abstract. Many boys and men do not realise they have it. Symptoms ... Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. 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! Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Poly-KS males might also show slight differences in other physical features. 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. 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. Your GP may suspect Klinefelter syndrome after a physical examination and may suggest sending off a sample of blood to check reproductive hormone levels. 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 genetic disorder is se⦠Taurodontism may occur as one of many dentofacial manifestations of KS and can be detected before development of other physical characteristics. 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. 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. Identification of patients with taurodontic teeth may lead to early recognition of the disorder and could substantially improve quality of life. Klinefelter syndrome does not usually cause any obvious symptoms early in childhood, and even the later symptoms may be difficult to spot. 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. Klinefelter's syndrome is named after Harry F. Klinefelter (cline-felter) who first described the syndrome in the USA in 1942. Klinefelter syndrome is a genetic condition that affects males physical, behavioral, and cognitive development and functioning. 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. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. 500 to 1,000 baby boys of symptoms that result from two or more X (. 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