Hutaff-Lee C, et al. The UTX gene may be implicated in potential immune issues underlying the repeated episodes of otitis media, which are common. Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Most individuals with Turner syndrome remain unable to conceive children. For specific medical advice, diagnoses, and treatment, consult your doctor. Follow her lead on how much information she wants to share. In many cases, only a certain percentage of an individuals cell may be affected. Aortic dissection can potentially cause the outer wall of the aorta to rupture. This will include an echocardiogram. Many individuals with a diagnosis of Turner syndrome undergo a complete cardiac workup to assess the structure and function of the heart.
https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1007692, Silberbach M, Roos-Hesselink JW, Andersen NH, et al. Turner syndrome is one of the most common chromosomal disorders and likely the most common genetic disorder of females. In such cases, it is recommended that the non-functioning gonadal tissue be removed.
Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. Replacement therapy must be continued in order to maintain these characteristics and most women will require estrogen and progesterone therapy until menopause. Turner syndrome. A single copy of these materials may be reprinted for noncommercial personal use only. These hormones are necessary for the onset of puberty and the proper development of secondary sexual characteristics. Such defects may include bicuspid aortic valve, in which the aortic valve has two flaps (leaflets) instead of three. Congenital heart defects may be associated with Turner syndrome, especially in individuals with lymphedema. Because TS is a chromosomal disorder, there's no cure for the condition. Before birth, the condition may be found through karyotype or noninvasive prenatal testing (NIPT). health information, we will treat all of that information as protected health Most cases do not run in families and appear to occur randomly for no apparent reason (sporadically). Turner syndrome is highly variable and can differ dramatically from one person to another. This second cell line may contain various abnormalities such as partial or complete loss of the X chromosome. Check her classroom environment. Thus, females with a normal chromosome make-up (karyotype) have 46 chromosomes, including two X chromosomes (46, XX karyotype). 
the unsubscribe link in the e-mail. Early intervention is important in ensuring that children with Turner syndrome reach their potential. Climacteric. a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. In approximately 10% of cases, abnormal sideways curvature of the spine (scoliosis) may also occur. New issues in the diagnosis and management of Turner syndrome. These can vary widely some girls with TS have many features or symptoms; others have only a few. However, there are many individual factors that ultimately determine the effectiveness of GH therapy. We receive one copy from each parent. 2018; doi:10.1016/j.clp.2017.11.003. In these cases, the loss of genetic material from the X chromosome usually occurs because of spontaneous errors very early during fetal development. Gonadal dysgenesis can cause the loss of ovarian function early during childhood (premature ovarian failure). In females with Turner syndrome, all or a portion of one of the second sex chromosome is missing. Care of the adult woman with Turner syndrome. Mohamed S, et al. If learning problems are found, early preventive and intervention strategies can help. Almost all females with Turner syndrome exhibit growth failure and attain a final height that is shorter than average (short stature). Make a donation. 2008;121:e1622-e1627. chromosomecontains genes, which determine an individual's characteristics, such as eye color and height. Hormone replacement therapy is usually begun around 12-14 years of age. https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome. 2017; 177(3): G1-G70. Hearing abnormalities in young children may affect or delay speech development.
Girls typically have two X chromosomes (or XX), but girls with Turner syndrome have only one X chromosome or are missing part of one X chromosome.
In rare cases, some cells have one copy of the X chromosome, while other cells have one copy of the X chromosome and some Y chromosome material. 2018 Oct;11(10):e000048. Infants diagnosed at birth should receive a full ear, nose and throat examination including an auditory exam. Oxandrolone for growth hormone-treated girls aged up to 18 years with Turner syndrome. See your doctor if there are concerns about the possibility of Turner syndrome. Note: All information on KidsHealth is for educational purposes only. Half of the chromosomes are inherited from the father and the other half from the mother. Nature Reviews Endocrinology. The symptoms and severity of Turner syndrome can be quite variable from one person to another. You won't be able to provide good care for your daughter if you neglect your own needs. After birth, doctors can make a diagnosis with a karyotype or with a document.write(def_microarraytest_T);
Hypertension screening should also be performed. Review/update the November 18, 2017. Failure of the ovaries to develop may occur at birth or gradually during childhood, the teen years or young adulthood. Learning about Turner syndrome. Arrange your home so that it's comfortable for her (provide sturdy footstools in the bathroom and kitchen and easy access to clothing, closets, personal care items, and other necessities). Noonan syndrome is a common genetic disorder that is typically evident at birth (congenital). There is a problem with In certain cases, certain physical findings associated with Turner syndrome may be seen on a fetal ultrasound. Journal of the American Academy of Orthopedic Surgeons. NEW The Essential Diabetes Book - Mayo Clinic Press, Mayo Clinic on Incontinence - Mayo Clinic Press, NEW Mayo Clinic on Hearing and Balance - Mayo Clinic Press, FREE Mayo Clinic Diet Assessment - Mayo Clinic Press, Mayo Clinic Health Letter - FREE book - Mayo Clinic Press, Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic School of Continuous Professional Development, Mayo Clinic School of Graduate Medical Education, Book: Mayo Clinic Family Health Book, 5th Edition, Newsletter: Mayo Clinic Health Letter Digital Edition. Children, especially those who experience repeated otitis media, as well as adults, require periodic hearing evaluation. Clinics in Perinatology. Kidney (renal) abnormalities may occur in some cases including horseshoe kidneys or absence (agenesis) of a kidney. information highlighted below and resubmit the form. Individuals with Turner syndrome may benefit from growth hormone (GH) therapy, which can help to normalize height.
For example, thyroid hormone replacement therapy may be used to treat individuals with thyroid disease. Mayo Clinic for Medical Education and Research. Thyroid disease usually occurs because the immune system mistakenly attacks thyroid tissue, a condition known as Hashimotos syndrome (autoimmune thyroiditis). If needed, get help and support from her doctor, developmental pediatrician, or other medical specialists and mental health providers. Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Chromosomes are further sub-divided into many bands that are numbered. In females who have Turner syndrome, one copy of the X chromosome is missing, partially missing or changed.
Take care of yourself. Most females with Turner syndrome require sex hormone replacement therapy in order to undergo normal development associated with puberty and to begin their menstrual periods. Kidney abnormalities increase the risk of urinary tract infections and high blood pressure (hypertension). Turner Syndrome. National Organization for Rare Disorders (NORD) 55 Kenosia Ave., Danbury CT 06810 (203)744-0100. Mayo Clinic. Noonan syndrome is an autosomal dominant genetic disorder caused by abnormalities (mutations) in multiple single genes that make up the rasopathy pathway. http://www.ncbi.nlm.nih.gov/pubmed/18504294, McCarthy K, Bondy CA. Affected females may also be prone to infections of the middle ear (otitis media), especially during infancy and early childhood. National Human Genome Research Institute.
Mayo Clinic is a not-for-profit organization. All rights reserved. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. In adults, hearing loss due to an impaired ability of the auditory nerves to transmit sensory input to the brain (sensorineural hearing loss) may occur and may worsen with age. Some symptoms associated with Noonan syndrome may superficially resemble those with Turner syndrome (due to certain findings that may be associated with both disorders, such as short stature, webbed neck, etc.). However, mild cases can remain undiagnosed until later in life and even during adulthood. Girls who have this condition usually are shorter than average and infertile due to early loss of ovarian function. NIPT is done on the fluid surrounding the fetus, tissue from the placenta, or the blood from the mother. In some cases, the chromosomal abnormality appears to arise spontaneously (de novo) due to an error in the division of a parents reproductive cells, either in the fathers sperm or the mothers egg. 2019; doi:10.5435/JAAOS-D-17-00796. Turner syndrome is caused by partial or complete loss (monosomy) of the second sex chromosome. Accessed Oct. 5, 2021. Copyright 2021 NORD - National Organization for Rare Disorders, Inc. All rights reserved. Girls born with the X condition in only some of their cells have mosaic Turner syndrome. The primary therapies for affected individuals are growth hormone therapy and estrogen therapy. Each chromosome has a short arm designated p and a long arm designated q. Affected individuals should also undergo thyroid function tests because of the potential for thyroid disease. Most women with Turner syndrome are infertile. Physical characteristics and health complications that arise from these chromosomal issues vary greatly. Kitchen chairs or stools that have rungs are especially helpful, as it can be tiring for her if her feet don't reach the floor. To diagnose Turner syndrome, doctors use a special blood test that looks at chromosomes, called a document.write(def_karyotypetest_T); INTERNET Danieal MS, Postellon, DC. 1998-2022 Mayo Foundation for Medical Education and Research (MFMER). Genetic counseling is recommended for affected individuals and their families. The heart defects associated with some cases of Turner syndrome can increase the risk of severe, life-threatening complications including high blood pressure of the arteries of the lungs (pulmonary hypertension) or aortic dissection, a condition in which there is a tear in the inner wall of the aorta. During a physical exam, a doctor may look for the physical features of Turner syndrome. https://www.genome.gov/Genetic-Disorders/Turner-Syndrome. Many infants with Noonan syndrome also have heart (cardiac) defects, such as obstruction of proper blood flow from the lower right chamber of the heart to the lungs (pulmonary valvular stenosis). 2019; doi:10.1038/s41574-019-0224-4. Karyotyping is a laboratory test that evaluates the number and structure of chromosomes. /content/kidshealth/misc/medicalcodes/parents/articles/turner, Endocrinology (Hormones & Growth) at Nemours Children's Health, "webbing" of the skin of the neck (extra folds of skin extending from the tops of the shoulders to the sides of the neck), unusual eye features, including drooping of the eyelids, altered bone development, especially the bones of the hands and elbows, a lack of breast development at the expected age (usually by age 13), a larger than usual number of moles on the skin. Available at: http://turners.nichd.nih.gov/ Accessed January 7, 2019. NORD gratefully acknowledges Melissa L. Crenshaw, MD, FACMG, FAAP, Chief, Division of Genetics, Johns Hopkins All Children's Hospital, and Carolyn A. Bondy, MD, Chief, Section on Epigenetics & Development, National Institute of Child Health and Human Development, NIH Clinical Center, for assistance in the preparation of this report. 1995-2022The Nemours Foundation. It's important to get a prompt, accurate diagnosis and appropriate care. Theoretically, individuals with Turner syndrome mosaicism may have fewer developmental problems than other cases because fewer cells are affected. "Mayo," "Mayo Clinic," "MayoClinic.org," "Mayo Clinic Healthy Living," and the triple-shield Mayo Clinic logo are trademarks of Mayo Foundation for Medical Education and Research. Accessed Oct. 5, 2021. Isochromosomes occur when one arm of a chromosome is missing and is replaced by an identical version of the other arm. Girls and women with Turner syndrome need ongoing medical care from a variety of specialists.
Intelligence is usually normal in females with Turner syndrome. This is when most average girls will enter puberty. Acosta AM, et al. Chronic otitis media may be associated with hearing loss due to blockage of sound waves (conductive hearing loss). This results in the genetic error being contained in all cells of the body. If we combine this information with your protected Available at: http://www.mayoclinic.com/health/turner-syndrome/DS01017 Accessed January 7, 2019. other information we have about you. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site. Our Housecall e-newsletter will keep you up-to-date on the latest health information. Turner syndrome should be suspected in girls with growth deficiency or short stature of unknown cause. Turner syndrome is not caused by anything the parents did or did not do. Girls who have Turner syndrome don't have typical ovarian development. Complications that can occur include: Mayo Clinic does not endorse companies or products. Redel JM, et al. (For more information on this disorder, choose Noonan as your search term in the Rare Disease Database.). Dec. 19, 2021. For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office: Tollfree: (800) 411-1222 TTY: (866) 411-1010 Email: [emailprotected], Some current clinical trials also are posted on the following page on the NORD website: https://rarediseases.org/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/, For information about clinical trials sponsored by private sources, contact: www.centerwatch.com, For information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/. Certain individuals with Turner syndrome appear to be at greater risk than the general population for developing certain disorders including diabetes, Celiac disease and osteoporosis. Girls with Turner syndrome usually have normal intelligence, but some may have learning problems, particularly in math. Consequently, in the past, Noonan syndrome has been referred to as male Turner syndrome, female pseudo-Turner syndrome, or Turner phenotype with normal chromosomes karyotype. However, there are many important differences between the two disorders. Special services that may be beneficial to affected children may include special psychosocial support, speech therapy, and other such services. Most symptoms of Turner syndrome occur due to the loss of specific genetic material from one of the X chromosomes. Los E, et al. Turner syndrome is an independent risk factor for aortic dilation in the young. If we don't have a program for you now, please continue to check back with us. information submitted for this request. With proper medical care, females with Turner syndrome should be able to lead full, productive lives. Treatment The treatment of Turner syndrome is directed toward the specific symptoms that are apparent in each individual. Definitive testing can be done by CVS or amniocentesis. Turner syndrome.
Estrogen and progesterone replacement therapy will generally promote puberty and the development of secondary sexual characteristics. Your doctor may refer you to a physician who specializes in genetics (geneticist) or in hormone disorders (endocrinologist) for further evaluation. Some affected individuals may have thyroid disease, which can cause decreased activity of the thyroid (hypothyroidism). The Food and Drug Administration (FDA) has approved the use of recombinant GH for the treatment of children with Turner syndrome. Sometimes, it's because of a problem with the sperm or the egg, and other times, the loss or alteration of the X chromosome happens early in fetal development.
Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association. Advertising revenue supports our not-for-profit mission. 2019; doi:10.1002/ajmg.c.31685. NORD is a registered 501(c)(3) charity organization. 2005;6:269-280. http://www.ncbi.nlm.nih.gov/pubmed/16311945, Sybert VP, McCauley E. Turners syndrome. Prenatal ultrasound of a baby with Turner syndrome may show: Signs of Turner syndrome at birth or during infancy may include: The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure. Males inherit the X chromosome from their mothers and the Y chromosome from their fathers. But a number of treatments can help: Early consultation with a developmental pediatrician and screening for cognitive issues may help girls with Turner syndrome who have learning problems. For example, these genes may encode proteins that are involved in the proper development of the lymphatic and cardiovascular systems. Gastrointestinal problems including feeding difficulties and gastroesophageal reflux (GERD) may also occur. Orthopaedic manifestations in Turner syndrome. Additional treatment is symptomatic and supportive. In most cases, these pregnancies carry risks and require close consultation with a patients healthcare team. CVS is performed at 10-12 weeks of pregnancy and involves the removal of tissue samples from a portion of the placenta, while amniocentesis is performed at 16-18 weeks gestation and involves taking a small sample of the fluid around the fetus. The flaps open and close to allow the passage of blood. Characteristic abnormalities of the head and facial (craniofacial) area may include widely set eyes (ocular hypertelorism); skin folds that may cover the eyes inner corners (epicanthal folds); drooping of the upper eyelids (ptosis); a small jaw (micrognathia); a depressed nasal root; a short nose with broad base; and low-set, posteriorly rotated ears (pinnae). 2019; doi:10.1002/ajmg.c.31687. Circ Genom Precis Med. include protected health information. If you are a Mayo Clinic patient, this could The loss or alteration of the X chromosome occurs randomly. Females inherit one X chromosome from each parent. Noonan syndrome affects both males and females, and there is a normal chromosomal makeup (karyotype). The disorder is a random error in cell division that happens when a parent's reproductive cells are being formed. The disorder is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity. Many features of the disorder are nonspecific and others may develop slowly over time or can be subtle. A special set of tests (called psychoeducational evaluation) can identify specific problems. Since there are only two flaps instead of three, the aortic valve does not function properly. Accessed Oct. 5, 2021. Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. More research is necessary to identify all of the genes that play a role in the development of the clinical features of Turner syndrome. Further research is necessary to completely understand the complicated factors involved in the development of the various symptoms associated with Turner syndrome. Please note that NORD provides this information for the benefit of the rare disease community. If untreated, severe cases can result in insufficient blood flow to the organs of the body or eventually progress to congestive heart failure. https://www.ahajournals.org/doi/10.1161/HCG.0000000000000048, Gravholt CH, Anderson NH, Conway GS et al. Karyotyping can be done on almost any type of tissue. Family history doesn't seem to be a risk factor, so it's unlikely that parents of one child with Turner syndrome will have another child with the disorder. Ask for help from teachers to provide the right accommodations so that she can reach water fountains, classroom materials, and supplies. 2019; doi:10.1002/14651858.CD010736.pub2. karyotype test (chromosomal analysis).
Turner syndrome is being increasingly diagnosed before birth (prenatally). Help her cope with new situations and encourage her to ask her friends for help. Find out about COVID-19, COVID-19 vaccines, and Mayo Clinic patient and visitor updates. https://www.turnersyndrome.org/. Accessed Oct. 5, 2021. Sign up for free, and stay up to date on research advancements, health tips and current health topics, like COVID-19, plus expertise on managing health. Screening for Turner syndrome and other chromosome abnormalities can be performed by noninvasive testing on a maternal blood sample. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Turner syndrome may be diagnosed before birth or shortly after birth or during early childhood. Rev Endocr Metab Disord. Specific therapeutic procedures and interventions may vary, depending upon numerous factors, such as disease severity; the presence or absence of certain symptoms; an individuals age and general health; and/or other elements. American Journal of Medical Genetics Part C; Seminars in Medical Genetics. The aortic valve regulates blood flow from the heart into the aorta. Liver abnormalities may include a fatty liver.
An example would be right-left disorientation.
https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1007692, Silberbach M, Roos-Hesselink JW, Andersen NH, et al. Turner syndrome is one of the most common chromosomal disorders and likely the most common genetic disorder of females. In such cases, it is recommended that the non-functioning gonadal tissue be removed.
Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. Replacement therapy must be continued in order to maintain these characteristics and most women will require estrogen and progesterone therapy until menopause. Turner syndrome. A single copy of these materials may be reprinted for noncommercial personal use only. These hormones are necessary for the onset of puberty and the proper development of secondary sexual characteristics. Such defects may include bicuspid aortic valve, in which the aortic valve has two flaps (leaflets) instead of three. Congenital heart defects may be associated with Turner syndrome, especially in individuals with lymphedema. Because TS is a chromosomal disorder, there's no cure for the condition. Before birth, the condition may be found through karyotype or noninvasive prenatal testing (NIPT). health information, we will treat all of that information as protected health Most cases do not run in families and appear to occur randomly for no apparent reason (sporadically). Turner syndrome is highly variable and can differ dramatically from one person to another. This second cell line may contain various abnormalities such as partial or complete loss of the X chromosome. Check her classroom environment. Thus, females with a normal chromosome make-up (karyotype) have 46 chromosomes, including two X chromosomes (46, XX karyotype). the unsubscribe link in the e-mail. Early intervention is important in ensuring that children with Turner syndrome reach their potential. Climacteric. a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. In approximately 10% of cases, abnormal sideways curvature of the spine (scoliosis) may also occur. New issues in the diagnosis and management of Turner syndrome. These can vary widely some girls with TS have many features or symptoms; others have only a few. However, there are many individual factors that ultimately determine the effectiveness of GH therapy. We receive one copy from each parent. 2018; doi:10.1016/j.clp.2017.11.003. In these cases, the loss of genetic material from the X chromosome usually occurs because of spontaneous errors very early during fetal development. Gonadal dysgenesis can cause the loss of ovarian function early during childhood (premature ovarian failure). In females with Turner syndrome, all or a portion of one of the second sex chromosome is missing. Care of the adult woman with Turner syndrome. Mohamed S, et al. If learning problems are found, early preventive and intervention strategies can help. Almost all females with Turner syndrome exhibit growth failure and attain a final height that is shorter than average (short stature). Make a donation. 2008;121:e1622-e1627. chromosomecontains genes, which determine an individual's characteristics, such as eye color and height. Hormone replacement therapy is usually begun around 12-14 years of age. https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome. 2017; 177(3): G1-G70. Hearing abnormalities in young children may affect or delay speech development. Girls typically have two X chromosomes (or XX), but girls with Turner syndrome have only one X chromosome or are missing part of one X chromosome.
In rare cases, some cells have one copy of the X chromosome, while other cells have one copy of the X chromosome and some Y chromosome material. 2018 Oct;11(10):e000048. Infants diagnosed at birth should receive a full ear, nose and throat examination including an auditory exam. Oxandrolone for growth hormone-treated girls aged up to 18 years with Turner syndrome. See your doctor if there are concerns about the possibility of Turner syndrome. Note: All information on KidsHealth is for educational purposes only. Half of the chromosomes are inherited from the father and the other half from the mother. Nature Reviews Endocrinology. The symptoms and severity of Turner syndrome can be quite variable from one person to another. You won't be able to provide good care for your daughter if you neglect your own needs. After birth, doctors can make a diagnosis with a karyotype or with a document.write(def_microarraytest_T);
Hypertension screening should also be performed. Review/update the November 18, 2017. Failure of the ovaries to develop may occur at birth or gradually during childhood, the teen years or young adulthood. Learning about Turner syndrome. Arrange your home so that it's comfortable for her (provide sturdy footstools in the bathroom and kitchen and easy access to clothing, closets, personal care items, and other necessities). Noonan syndrome is a common genetic disorder that is typically evident at birth (congenital). There is a problem with In certain cases, certain physical findings associated with Turner syndrome may be seen on a fetal ultrasound. Journal of the American Academy of Orthopedic Surgeons. NEW The Essential Diabetes Book - Mayo Clinic Press, Mayo Clinic on Incontinence - Mayo Clinic Press, NEW Mayo Clinic on Hearing and Balance - Mayo Clinic Press, FREE Mayo Clinic Diet Assessment - Mayo Clinic Press, Mayo Clinic Health Letter - FREE book - Mayo Clinic Press, Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic School of Continuous Professional Development, Mayo Clinic School of Graduate Medical Education, Book: Mayo Clinic Family Health Book, 5th Edition, Newsletter: Mayo Clinic Health Letter Digital Edition. Children, especially those who experience repeated otitis media, as well as adults, require periodic hearing evaluation. Clinics in Perinatology. Kidney (renal) abnormalities may occur in some cases including horseshoe kidneys or absence (agenesis) of a kidney. information highlighted below and resubmit the form. Individuals with Turner syndrome may benefit from growth hormone (GH) therapy, which can help to normalize height.
For example, thyroid hormone replacement therapy may be used to treat individuals with thyroid disease. Mayo Clinic for Medical Education and Research. Thyroid disease usually occurs because the immune system mistakenly attacks thyroid tissue, a condition known as Hashimotos syndrome (autoimmune thyroiditis). If needed, get help and support from her doctor, developmental pediatrician, or other medical specialists and mental health providers. Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Chromosomes are further sub-divided into many bands that are numbered. In females who have Turner syndrome, one copy of the X chromosome is missing, partially missing or changed.
Take care of yourself. Most females with Turner syndrome require sex hormone replacement therapy in order to undergo normal development associated with puberty and to begin their menstrual periods. Kidney abnormalities increase the risk of urinary tract infections and high blood pressure (hypertension). Turner Syndrome. National Organization for Rare Disorders (NORD) 55 Kenosia Ave., Danbury CT 06810 (203)744-0100. Mayo Clinic. Noonan syndrome is an autosomal dominant genetic disorder caused by abnormalities (mutations) in multiple single genes that make up the rasopathy pathway. http://www.ncbi.nlm.nih.gov/pubmed/18504294, McCarthy K, Bondy CA. Affected females may also be prone to infections of the middle ear (otitis media), especially during infancy and early childhood. National Human Genome Research Institute.
Mayo Clinic is a not-for-profit organization. All rights reserved. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. In adults, hearing loss due to an impaired ability of the auditory nerves to transmit sensory input to the brain (sensorineural hearing loss) may occur and may worsen with age. Some symptoms associated with Noonan syndrome may superficially resemble those with Turner syndrome (due to certain findings that may be associated with both disorders, such as short stature, webbed neck, etc.). However, mild cases can remain undiagnosed until later in life and even during adulthood. Girls who have this condition usually are shorter than average and infertile due to early loss of ovarian function. NIPT is done on the fluid surrounding the fetus, tissue from the placenta, or the blood from the mother. In some cases, the chromosomal abnormality appears to arise spontaneously (de novo) due to an error in the division of a parents reproductive cells, either in the fathers sperm or the mothers egg. 2019; doi:10.5435/JAAOS-D-17-00796. Turner syndrome is caused by partial or complete loss (monosomy) of the second sex chromosome. Accessed Oct. 5, 2021. Copyright 2021 NORD - National Organization for Rare Disorders, Inc. All rights reserved. Girls born with the X condition in only some of their cells have mosaic Turner syndrome. The primary therapies for affected individuals are growth hormone therapy and estrogen therapy. Each chromosome has a short arm designated p and a long arm designated q. Affected individuals should also undergo thyroid function tests because of the potential for thyroid disease. Most women with Turner syndrome are infertile. Physical characteristics and health complications that arise from these chromosomal issues vary greatly. Kitchen chairs or stools that have rungs are especially helpful, as it can be tiring for her if her feet don't reach the floor. To diagnose Turner syndrome, doctors use a special blood test that looks at chromosomes, called a document.write(def_karyotypetest_T); INTERNET Danieal MS, Postellon, DC. 1998-2022 Mayo Foundation for Medical Education and Research (MFMER). Genetic counseling is recommended for affected individuals and their families. The heart defects associated with some cases of Turner syndrome can increase the risk of severe, life-threatening complications including high blood pressure of the arteries of the lungs (pulmonary hypertension) or aortic dissection, a condition in which there is a tear in the inner wall of the aorta. During a physical exam, a doctor may look for the physical features of Turner syndrome. https://www.genome.gov/Genetic-Disorders/Turner-Syndrome. Many infants with Noonan syndrome also have heart (cardiac) defects, such as obstruction of proper blood flow from the lower right chamber of the heart to the lungs (pulmonary valvular stenosis). 2019; doi:10.1038/s41574-019-0224-4. Karyotyping is a laboratory test that evaluates the number and structure of chromosomes. /content/kidshealth/misc/medicalcodes/parents/articles/turner, Endocrinology (Hormones & Growth) at Nemours Children's Health, "webbing" of the skin of the neck (extra folds of skin extending from the tops of the shoulders to the sides of the neck), unusual eye features, including drooping of the eyelids, altered bone development, especially the bones of the hands and elbows, a lack of breast development at the expected age (usually by age 13), a larger than usual number of moles on the skin. Available at: http://turners.nichd.nih.gov/ Accessed January 7, 2019. NORD gratefully acknowledges Melissa L. Crenshaw, MD, FACMG, FAAP, Chief, Division of Genetics, Johns Hopkins All Children's Hospital, and Carolyn A. Bondy, MD, Chief, Section on Epigenetics & Development, National Institute of Child Health and Human Development, NIH Clinical Center, for assistance in the preparation of this report. 1995-2022The Nemours Foundation. It's important to get a prompt, accurate diagnosis and appropriate care. Theoretically, individuals with Turner syndrome mosaicism may have fewer developmental problems than other cases because fewer cells are affected. "Mayo," "Mayo Clinic," "MayoClinic.org," "Mayo Clinic Healthy Living," and the triple-shield Mayo Clinic logo are trademarks of Mayo Foundation for Medical Education and Research. Accessed Oct. 5, 2021. Isochromosomes occur when one arm of a chromosome is missing and is replaced by an identical version of the other arm. Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Intelligence is usually normal in females with Turner syndrome. This is when most average girls will enter puberty. Acosta AM, et al. Chronic otitis media may be associated with hearing loss due to blockage of sound waves (conductive hearing loss). This results in the genetic error being contained in all cells of the body. If we combine this information with your protected Available at: http://www.mayoclinic.com/health/turner-syndrome/DS01017 Accessed January 7, 2019. other information we have about you. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site. Our Housecall e-newsletter will keep you up-to-date on the latest health information. Turner syndrome should be suspected in girls with growth deficiency or short stature of unknown cause. Turner syndrome is not caused by anything the parents did or did not do. Girls who have Turner syndrome don't have typical ovarian development. Complications that can occur include: Mayo Clinic does not endorse companies or products. Redel JM, et al. (For more information on this disorder, choose Noonan as your search term in the Rare Disease Database.). Dec. 19, 2021. For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office: Tollfree: (800) 411-1222 TTY: (866) 411-1010 Email: [emailprotected], Some current clinical trials also are posted on the following page on the NORD website: https://rarediseases.org/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/, For information about clinical trials sponsored by private sources, contact: www.centerwatch.com, For information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/. Certain individuals with Turner syndrome appear to be at greater risk than the general population for developing certain disorders including diabetes, Celiac disease and osteoporosis. Girls with Turner syndrome usually have normal intelligence, but some may have learning problems, particularly in math. Consequently, in the past, Noonan syndrome has been referred to as male Turner syndrome, female pseudo-Turner syndrome, or Turner phenotype with normal chromosomes karyotype. However, there are many important differences between the two disorders. Special services that may be beneficial to affected children may include special psychosocial support, speech therapy, and other such services. Most symptoms of Turner syndrome occur due to the loss of specific genetic material from one of the X chromosomes. Los E, et al. Turner syndrome is an independent risk factor for aortic dilation in the young. If we don't have a program for you now, please continue to check back with us. information submitted for this request. With proper medical care, females with Turner syndrome should be able to lead full, productive lives. Treatment The treatment of Turner syndrome is directed toward the specific symptoms that are apparent in each individual. Definitive testing can be done by CVS or amniocentesis. Turner syndrome.
Estrogen and progesterone replacement therapy will generally promote puberty and the development of secondary sexual characteristics. Your doctor may refer you to a physician who specializes in genetics (geneticist) or in hormone disorders (endocrinologist) for further evaluation. Some affected individuals may have thyroid disease, which can cause decreased activity of the thyroid (hypothyroidism). The Food and Drug Administration (FDA) has approved the use of recombinant GH for the treatment of children with Turner syndrome. Sometimes, it's because of a problem with the sperm or the egg, and other times, the loss or alteration of the X chromosome happens early in fetal development.
Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association. Advertising revenue supports our not-for-profit mission. 2019; doi:10.1002/ajmg.c.31685. NORD is a registered 501(c)(3) charity organization. 2005;6:269-280. http://www.ncbi.nlm.nih.gov/pubmed/16311945, Sybert VP, McCauley E. Turners syndrome. Prenatal ultrasound of a baby with Turner syndrome may show: Signs of Turner syndrome at birth or during infancy may include: The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure. Males inherit the X chromosome from their mothers and the Y chromosome from their fathers. But a number of treatments can help: Early consultation with a developmental pediatrician and screening for cognitive issues may help girls with Turner syndrome who have learning problems. For example, these genes may encode proteins that are involved in the proper development of the lymphatic and cardiovascular systems. Gastrointestinal problems including feeding difficulties and gastroesophageal reflux (GERD) may also occur. Orthopaedic manifestations in Turner syndrome. Additional treatment is symptomatic and supportive. In most cases, these pregnancies carry risks and require close consultation with a patients healthcare team. CVS is performed at 10-12 weeks of pregnancy and involves the removal of tissue samples from a portion of the placenta, while amniocentesis is performed at 16-18 weeks gestation and involves taking a small sample of the fluid around the fetus. The flaps open and close to allow the passage of blood. Characteristic abnormalities of the head and facial (craniofacial) area may include widely set eyes (ocular hypertelorism); skin folds that may cover the eyes inner corners (epicanthal folds); drooping of the upper eyelids (ptosis); a small jaw (micrognathia); a depressed nasal root; a short nose with broad base; and low-set, posteriorly rotated ears (pinnae). 2019; doi:10.1002/ajmg.c.31687. Circ Genom Precis Med. include protected health information. If you are a Mayo Clinic patient, this could The loss or alteration of the X chromosome occurs randomly. Females inherit one X chromosome from each parent. Noonan syndrome affects both males and females, and there is a normal chromosomal makeup (karyotype). The disorder is a random error in cell division that happens when a parent's reproductive cells are being formed. The disorder is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity. Many features of the disorder are nonspecific and others may develop slowly over time or can be subtle. A special set of tests (called psychoeducational evaluation) can identify specific problems. Since there are only two flaps instead of three, the aortic valve does not function properly. Accessed Oct. 5, 2021. Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. More research is necessary to identify all of the genes that play a role in the development of the clinical features of Turner syndrome. Further research is necessary to completely understand the complicated factors involved in the development of the various symptoms associated with Turner syndrome. Please note that NORD provides this information for the benefit of the rare disease community. If untreated, severe cases can result in insufficient blood flow to the organs of the body or eventually progress to congestive heart failure. https://www.ahajournals.org/doi/10.1161/HCG.0000000000000048, Gravholt CH, Anderson NH, Conway GS et al. Karyotyping can be done on almost any type of tissue. Family history doesn't seem to be a risk factor, so it's unlikely that parents of one child with Turner syndrome will have another child with the disorder. Ask for help from teachers to provide the right accommodations so that she can reach water fountains, classroom materials, and supplies. 2019; doi:10.1002/14651858.CD010736.pub2. karyotype test (chromosomal analysis).
Turner syndrome is being increasingly diagnosed before birth (prenatally). Help her cope with new situations and encourage her to ask her friends for help. Find out about COVID-19, COVID-19 vaccines, and Mayo Clinic patient and visitor updates. https://www.turnersyndrome.org/. Accessed Oct. 5, 2021. Sign up for free, and stay up to date on research advancements, health tips and current health topics, like COVID-19, plus expertise on managing health. Screening for Turner syndrome and other chromosome abnormalities can be performed by noninvasive testing on a maternal blood sample. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Turner syndrome may be diagnosed before birth or shortly after birth or during early childhood. Rev Endocr Metab Disord. Specific therapeutic procedures and interventions may vary, depending upon numerous factors, such as disease severity; the presence or absence of certain symptoms; an individuals age and general health; and/or other elements. American Journal of Medical Genetics Part C; Seminars in Medical Genetics. The aortic valve regulates blood flow from the heart into the aorta. Liver abnormalities may include a fatty liver.
An example would be right-left disorientation.