Materiały źródłowe

• #1 Turner syndrome: Clinical manifestations and diagnosis – UpToDate

  https://www.uptodate.com/contents/turner-syndrome-clinical-manifestations-and-diagnosis

  Turner syndrome (TS) is a sex chromosome disorder that affects phenotypic females with one intact X chromosome and complete or partial absence of the second sex chromosome in association with one or more specific clinical manifestations. It is one of the more commonly occurring chromosomal aneuploidies. […] The clinical manifestations and diagnosis of TS will be reviewed here. […] DIAGNOSIS OF TURNER SYNDROME […] When to suspect Turner syndrome […] Based on the results of prenatal testing […] Based on clinical features […] Confirmatory diagnostic testing.

• #2 Turner syndrome: Clinical manifestations and diagnosis – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-turner-syndrome

  Turner syndrome (TS) is a sex chromosome disorder that affects phenotypic females with one intact X chromosome and complete or partial absence of the second sex chromosome in association with one or more specific clinical manifestations. […] The clinical manifestations and diagnosis of TS will be reviewed here. […] DIAGNOSIS OF TURNER SYNDROME […] When to suspect Turner syndrome […] Based on the results of prenatal testing […] Based on clinical features […] Confirmatory diagnostic testing.

• #3 Turner syndrome – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782

  Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. […] It’s important to get a prompt, accurate diagnosis and appropriate care. See your doctor if there are concerns about the possibility of Turner syndrome. Your doctor may refer you to a physician who specializes in genetics (geneticist) or in hormone disorders (endocrinologist) for further evaluation. […] Associated Procedures include Amniocentesis and Genetic testing.

• #4 How do healthcare providers diagnose Turner syndrome? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/turner/conditioninfo/diagnosed

  Healthcare providers use a combination of physical symptoms and the results of a genetic blood test, called a karyotype, to determine the chromosomal characteristics of the cells in a females body. The test will show if one of the X chromosomes is partially or completely missing. […] Turner syndrome also can be diagnosed during pregnancy by testing the cells in the amniotic fluid. Newborns may be diagnosed after heart problems are detected or after certain physical features, such as swollen hands and feet or webbed skin on the neck, are noticed. Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome. Some girls may be diagnosed as teenagers because of a slow growth rate or a lack of puberty-related changes. Still others may be diagnosed as adults when they have difficulty becoming pregnant.

• #5 Turner Syndrome: Diagnosis and Management | AAFP

  https://www.aafp.org/pubs/afp/issues/2007/0801/p405.html

  Turner syndrome is diagnosed in females with partial or complete absence of one X chromosome (45,X karyotype). Clinical manifestations vary and may be subtle, but they usually include short stature, a broad chest with widely spaced nipples, cubitus valgus, congenital lymphedema, and a lack of spontaneous pubertal development from ovarian sex hormone insufficiency. […] A diagnosis of Turner syndrome can be confirmed with standard karyotyping (i.e., chromosomal analysis of 30 peripheral lymphocytes). More than one half of patients with the condition will have a missing X chromosome (45,X) in all cells studied or a combination of monosomy X and normal cells (45,X/46,XX; mosaic Turner syndrome). A mosaic result does not necessarily predict severity because karyotyping only investigates lymphocytes, not the relevant tissues (e.g., brain, heart, ovaries). […] Karyotyping is indicated for girls with unexplained short stature (more than two standard deviations below the mean height for age).

• #6 Diagnosing Turner Syndrome – Turner Syndrome Foundation Email EmailEvent Series

  https://turnersyndromefoundation.org/what_is_turner_syndrome/diagnosing/?srsltid=AfmBOoppQgKICreCuKB3GZmokDBkFBSBJLT5nxtGnpvDFtpkBmGiZucs

  Diagnosing Turner Syndrome […] As soon as indications are noticed a female should be screened for Turner Syndrome. […] It is recommended by the American Medical Association that girls below the 5th percentile in height be screened, especially when combined with some of the physical features listed in the common indications check list. […] Babies are not routinely screened for Turner Syndrome at birth, and many infants do not have identifying characteristics; therefore, more than 50% of babies with TS are identified later in life. […] During pregnancy, Turner syndrome may be diagnosed by chorionic villi sampling (CVS) or after 13 weeks gestation, amniocentesis or even a sonogram requiring further evaluation. […] After birth she can have a simple blood test called a karyotype, which is the gold standard for testing. […] This test will check for the absence of all or part of one X chromosome.

• #7 Turner Syndrome | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/turner-syndrome

  Turner syndrome may be diagnosed either before or after birth. The most reliable way is by using a blood test called a karyotype, a chromosomal analysis that has 99.9 percent accuracy. […] Due to a wide variability in symptoms, some girls with Turner syndrome may not be diagnosed until the teen years or later. Once a diagnosis is made, your daughters doctor may recommend one or more of the following tests to see what organs are affected: Echocardiogram (heart ultrasound), Ultrasound of the reproductive organs and kidneys, Pelvic exam, Cardiac magnetic resonance imaging (MRI).

• #8 Turner Syndrome Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/949681-workup

  A standard 30-cell karyotype analysis is required for diagnosis of Turner syndrome, in order to exclude mosaicism. Diagnosis is confirmed by the presence of a 45,X cell line or a cell line with deletion of the short arm of the X chromosome (Xp deletion). […] A male phenotype excludes the diagnosis, regardless of karyotype. […] Patients with Turner syndrome should be investigated for the presence of Y chromosomal material using a Y-centromeric probe. […] The presence of virilization requires a thorough search for gonadal, adrenal, or midline tumors. […] Patients with 45,X/46,XY mosaicism may have mixed gonadal dysgenesis and are at a high risk for gonadoblastoma. […] Assess both LH and FSH levels prior to initiating estrogen replacement therapy. […] Because of the high prevalence of hypothyroidism in Turner syndrome, obtain thyroid function tests at diagnosis.

• #9 Turner Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK554621/

  Turner syndrome may be prenatally diagnosed by chorionic-villus sampling or amniocentesis. […] The diagnosis requires confirmation after birth with karyotype testing. […] Genetic testing with karyotype analysis is necessary to confirm the diagnosis in individuals with characteristic clinical features described above. […] The first step is a karyotype analysis with peripheral blood mononuclear cells. […] Elevated levels of follicle-stimulating hormone (FSH) are suggestive of Turner syndrome, and the anti-Mullerian hormone (AMH) may be a more sensitive marker for predicting ovarian failure. […] If the initial karyotype is normal in a patient with clinically suspected Turner syndrome, a second karyotype should be performed using a different tissue like skin, buccal mucosa cells, or bladder epithelial cells.

• #10 Turner syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/turner-syndrome/diagnosis-treatment/drc-20360783

  If, based on signs and symptoms, the doctor suspects that your child has Turner syndrome, a lab test will be done to analyze your child’s chromosomes. The test involves a blood sample. Occasionally, your doctor may also request a cheek scraping (buccal smear) or skin sample. The chromosome analysis determines whether or not there is a missing X chromosome or a change in one of the X chromosomes. […] A diagnosis is sometimes made during fetal development. Certain features on an ultrasound image may raise suspicion that your baby has Turner syndrome or another genetic condition affecting development in the womb. […] Prenatal screening tests that evaluate the baby’s DNA in the mother’s blood (prenatal cell-free fetal DNA screening or noninvasive prenatal screening) may also indicate an increased risk of Turner syndrome. However, doing a karyotype during pregnancy or after delivery is recommended to confirm the diagnosis.

• #11 Turner syndrome | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/turner-syndrome?lang=us

  Turner syndrome, also known as 45XO or 45X, is the most common of the sex chromosome abnormalities in females. […] In adults, Turner syndrome is one of the most important causes of primary amenorrhea and accounts for approximately one-third of such cases. The associated ovarian dysgenesis typically leads to absence of secondary sex characteristics. Intellectual development is unaffected in Turner syndrome. […] Turner syndrome is classically characterized by the absence of one X chromosome copy (45 XO), with the missing chromosome most frequently (two-thirds) being the paternal one. Most cases occur as a sporadic event. […] The prognosis of Turner syndrome is highly variable depending on the presenting associated anomalies. While the vast majority of fetuses are aborted in the second trimester, others may have a long life expectancy. Premature death is commonly due to associated cardiovascular disease. […] Patients displaying genetic mosaicism tend to have a more favorable prognosis.

• #12 Turner syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/turner-syndrome/diagnosis-treatment/drc-20360783

  If Turner syndrome is suspected before birth (prenatally), your pregnancy and childbirth specialist (obstetrician) may ask if you’re interested in additional tests to make a diagnosis before your baby is born. One of two procedures can be performed to test prenatally for Turner syndrome: […] Discuss the benefits and risks of prenatal testing with your doctor. […] If certain conditions such as a webbed neck or other distinct physical features are readily apparent at birth, diagnostic tests will likely begin before your child leaves the hospital. […] Your family doctor or pediatrician may suspect the disorder later if growth isn’t occurring at an expected rate or puberty doesn’t begin at an expected time. Diagnostic testing can confirm the diagnosis.

• #13 Turner Syndrome: What It Is, Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/15200-turner-syndrome

  Turner syndrome (TS) is a congenital condition (present from birth) that only affects females. […] Healthcare providers may diagnose Turner syndrome at any stage of a child’s development after birth. Sometimes, they can detect the condition before birth with the following tests: Noninvasive prenatal testing (NIPT): This is a screening blood test for the pregnant woman. It checks for signs that show an increased chance of a chromosomal issue with the fetus. […] After birth, a genetic test with karyotype analysis is the test that confirms a Turner syndrome diagnosis. This test requires a blood draw.

• #14 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Turner-Syndrome-Diagnosis-and-Treatment.aspx

  Most cases of Turner syndrome are diagnosed during childhood or adolescence, although it is possible for indicative signs to be identified in a prenatal ultrasound and confirmed with an amniocentesis diagnostic test. […] Karyotyping is used to confirm the diagnosis in children and adults, as it analyses the chromosomes and detects the missing X chromosome characteristic of Turner syndrome. […] Turner syndrome may be suspected in a fetus based on evidence of lymphedema or abnormalities of the heart or kidneys identified in a routine prenatal ultrasound. In this case, amniocentesis can be used to take a sample fluid from the womb, which is tested for chromosomal evidence of Turner syndrome. […] Diagnosis can be confirmed with a karyotype blood test. This involves the analysis of the chromosomal composition of the female and evidence of the missing or partially missing X chromosome.

• #15 Turner Syndrome Diagnosis & Treatment | Cardinal Glennon

  https://www.ssmhealth.com/cardinal-glennon/fetal-care-institute/fetal-conditions-we-treat/genetic-syndromes/monosomy-x-turner-syndrome

  Turner syndrome is often diagnosed before birth through tests called amniocentesis and chorionic villus sampling (CVS). […] Diagnosis can also be made after birth, typically through blood testing. […] Genetic screening such as noninvasive prenatal testing (NIPT) identifies pregnancies at increased probability of having Turner syndrome. Additionally, prenatal ultrasound may reveal physical findings associated with Turner syndrome, such as fluid accumulation and swelling as well as heart or kidney abnormalities.

• #16 What Is Turner Syndrome? Symptoms, Causes, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/turner-syndrome/guide/

  If your doctor suspects that your child has Turner syndrome, a genetic test will typically be done to analyze their chromosomes. This test is usually done with a blood sample, although your doctor may take a cheek scraping (buccal smear) or skin sample. The test determines whether or not your child’s cells are missing an X chromosome or have one or more abnormal X chromosomes. […] A diagnosis may be made prenatally, or it may be made at birth if symptoms such as swelling of the hands and feet or loose folds of skin at the back of the neck are present. A diagnosis of Turner syndrome may also occur in childhood if a girl is not growing as much or as rapidly as expected. Or it may be made in adolescence if a girl is very short or is not going through puberty by her teen years. […] Your doctor can perform one of two tests to make a diagnosis before your baby’s birth: Chorionic villus sampling (CVS) and Amniocentesis. Chorionic villus sampling involves taking a small piece of tissue from the placenta, which contains the same genetic material as the baby and can be analyzed to identify errors in chromosomes. CVS can be done earlier than amniocentesis, but there is a higher chance of complications or chance that the placenta cells chromosomes do not exactly reflect the chromosomes of the baby. In amniocentesis, a sample of the amniotic fluid is taken from the uterus and tested to analyze the baby’s chromosomes.

• #17 Diagnosis of Turner syndrome before birth.

  https://www.turnersyndrome.org/prenatal-diagnosis

  Prenatal screenings by ultrasound and/or blood tests are not always accurate. An amniocentesis is the only way to confirm a diagnosis before birth. Your babys diagnosis will be confirmed after birth with a blood sample for a genetic karyotype test. […] At birth, a wide range of symptoms COULD be present. The most urgent of these, are heart issues requiring surgery but most of these cases are identified during pregnancy. […] Carrying a baby with TS is considered a high-risk pregnancy, and you may choose to be monitored by a high-risk pregnancy specialist. […] There are medically accepted TS Clinical Practice Guidelines so physicians and health providers know the latest recommendations for care.

• #18 Laboratory guideline for Turner syndrome | Genetics in Medicine

  https://www.nature.com/articles/gim20108

  Prenatal diagnosis may indicate a karyotype consistent with a diagnosis of Turner syndrome; however, the phenotype of the individual cannot be predicted based on the chorionic villus or amniotic fluid cell karyotype, FISH, or microarray results. In the absence of abnormal prenatal ultrasound findings, girls with incidental prenatal karyotype findings associated with Turner syndrome have a less severe phenotype with fewer physical abnormalities compared with those diagnosed due to abnormal ultrasound findings. […] When a karyotype consistent with Turner syndrome is found prenatally, postnatal chromosome analysis is recommended to document the child’s karyotype.

• #19

  https://www.nhs.uk/conditions/turner-syndrome/diagnosis/

  Turner syndrome is usually identified during childhood or at puberty. However, it can sometimes be diagnosed before a baby is born using a test called amniocentesis. […] Turner syndrome is sometimes diagnosed at birth as the result of heart problems, kidney problems or lymphoedema. […] It’s often identified during early childhood, when a slow growth rate and other common features become noticeable. […] In some cases, a diagnosis is not made until puberty when breasts do not develop or monthly periods do not start. […] Karyotyping is a test that involves analysing the 23 pairs of chromosomes. It’s often used when Turner syndrome is suspected. […] The test can either be carried out while the baby is inside the womb by taking a sample of amniotic fluid (amniocentesis) or after birth by taking a sample of the baby’s blood.

• #20 Turner Syndrome (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/turner.html

  During a physical exam, a doctor may look for the physical features of Turner syndrome. These can vary widely some girls with TS have many features or symptoms; others have only a few. […] To diagnose Turner syndrome, doctors use a special blood test that looks at chromosomes, called a karyotype test (chromosomal analysis). Results that indicate TS show only one X chromosome instead of two X chromosomes, with a total of 45 chromosomes instead of the usual 46. Some girls with Turner syndrome have two X chromosomes detected, but one is missing a piece. […] Before birth, the condition may be found through karyotype or noninvasive prenatal testing (NIPT). NIPT is done on the fluid surrounding the fetus, tissue from the placenta, or the blood from the mother. But these tests are not definitive for diagnosis of Turner syndrome. After birth, doctors can make a diagnosis with a karyotype or with a microarray test from the baby.

• #21 Turner Syndrome | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/t/turner-syndrome

  Turner syndrome is often identified during pregnancy or in infancy, but is often not diagnosed until later in childhood. Tests include: […] After birth, a blood test called a karyotype can check for Turner syndrome. The karyotype will show a picture of a complete set of chromosomes. This may be requested for: […] Although not as common, adults may be diagnosed with Turner syndrome. They may have few or minor symptoms, or their doctor may not have considered all symptoms together to diagnose Turner syndrome. Some symptoms may show up in adulthood, such as infertility, diabetes and hearing loss, which would trigger testing. Early diagnosis of Turner syndrome is important because treatment can help manage symptoms and reduce risks of more serious conditions.

• #22 Turner syndrome – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/1106

  Turner syndrome has characteristic clinical features which include short stature and premature ovarian failure in a phenotypic female. […] Key diagnostic factors include poor growth, short stature, delayed/absent pubertal development, primary amenorrhea, congenital heart defects, skeletal abnormalities, webbed neck, and peripheral lymphedema. […] The first test to order for diagnosis is a karyotype. […] Other diagnostic factors include dysmorphic features, secondary amenorrhea, multiple melanocytic nevi, recurrent/severe otitis media, systolic ejection murmur and/or click, poor social skills, eye abnormalities, upper extremity hypertension, and dystrophic and/or hyperconvex nails.

• #23 Turner Syndrome Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/949681-workup

  Abnormalities of glucose metabolism, including overt diabetes mellitus, are more common than in unaffected children. […] As routine health maintenance, patients with Turner syndrome should have hemoglobin A1C, fasting lipids, liver enzymes measured annually after childhood. […] If virilization occurs, a search for Y chromosomal material by fluorescent in situ hybridization (FISH) or polymerase chain reaction (PCR) is necessary as part of an evaluation for possible gonadoblastoma. […] At diagnosis, perform ultrasonography of the kidneys and renal collecting system. […] Upon diagnosis, evaluate the heart and aorta with echocardiography, magnetic resonance imaging (MRI), or both. […] Obtain bone age before starting growth hormone or estrogen therapy. […] Audiology is indicated in patients with Turner syndrome.

• #24 Turner Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK554621/

  Following a diagnosis of Turner syndrome, management includes evaluation for other associated abnormalities like cardiac anomalies, renal anomalies, and learning disabilities. […] Screening should be a part of the baseline evaluation, and patients should undergo periodic screening thereafter. […] At initial diagnosis, patients should get renal ultrasonography and cardiovascular evaluation, including echocardiography in infants and children, and MRI in older girls and women. […] A karyotype is necessary to diagnose Turner syndrome.

• #25 Turner Syndrome: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/949681-overview

  Turner syndrome may be prenatally diagnosed by amniocentesis or chorionic villous sampling. […] Noninvasive prenatal testing of maternal blood can be used to screen for Turner syndrome with great sensitivity and specificity. […] A standard 30-cell karyotype analysis is required for diagnosis of Turner syndrome, to exclude mosaicism. […] Diagnosis is confirmed by the presence of a 45,X cell line or a cell line with deletion of the short arm of the X chromosome (Xp deletion). […] Patients with Turner syndrome should be investigated for the presence of Y chromosomal material using a Y-centromeric probe. […] Because of the high prevalence of hypothyroidism in Turner syndrome, obtain thyroid function tests at diagnosis; repeat TSH measurements every year in early childhood or if symptoms develop, because hypothyroidism may develop at a later age.

• #26 Turner Syndrome: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/949681-overview

  At diagnosis, perform ultrasonography of the kidneys and renal collecting system. […] Perform echocardiography and/or MRI of the heart and aorta upon diagnosis. […] Infants diagnosed at birth should have a hearing assessment in the nursery. […] Formal hearing assessment is recommended at age 1 year and before entering school.

• #27 Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol) | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02423-5

  Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. The diagnosis is established after karyotyping or a FISH analysis on the sex chromosomes (on blood, tissues, buccal cells, or amniotic fluid), which reveals 45,X monosomy in approximately 4050% of cases. The definitive diagnosis is established by FISH analysis on the sex chromosomes or karyotyping (on blood lymphocytes, amniotic fluid, buccal cells, etc.). The analysis of at least 20 cells was recommended by the last consensus conference, published in 2017. In certain cases, screening may be performed for possible mosaicism on a larger number of cell nuclei, on 100 or 200 cells (routinely performed with the FISH technique). […] The objective of this national diagnosis and care protocol (NDCP) is to describe current optimal diagnostic and therapeutic management and the integrated care pathway for Turner Syndrome (TS) in pediatric and adult patients. The specific aims of this NDCP include: Improving antenatal management and the announcement of the diagnosis; Screening for and managing possible associated comorbid conditions, to decrease morbidity and mortality; Optimizing growth and puberty; Ensuring continuity of care and facilitating the transition from pediatric to adult healthcare; Providing guidelines for the necessary follow-up during adulthood; Improving quality of life for both pediatric and adult patients.

• #28 Turner Syndrome – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-abnormalities/turner-syndrome

  In Turner syndrome, girls are born with one of their two X chromosomes partly or completely missing. Diagnosis is based on clinical findings and is confirmed by cytogenetic analysis. […] Diagnosis is confirmed by cytogenetic analysis (karyotyping, FISH analysis, and/or chromosomal microarray analysis). […] Cytogenetic analysis and Y-specific probe studies are done for all people with gonadal dysgenesis to rule out mosaicism with a Y-bearing cell line (eg, 45,X/46,XY).

• #29 Turner syndrome: narrative review of genetics and clinical aspects of management – Fudge – Pediatric Medicine

  https://pm.amegroups.org/article/view/7267/html

  Turner Syndrome is diagnosed in females who have lost an entire sex chromosome or part of the X chromosome that includes the tip of the short arm, and who have one or more typical clinical features of the disorder. A standard 30-cell karyotype is recommended for diagnosis of TS, and will identify at least 10% mosaicism with 95% confidence. If the standard karyotype is normal and there is high suspicion of TS, more metaphase cells may be counted in the karyotype and additional tissues such as skin fibroblasts or buccal mucosal cells may be genotyped. […] TS can be detected prenatally by invasive testing such as amniocentesis or chorionic villus sampling, although false positives may occur and a postnatal karyotype is required for confirmation. Recently, non-invasive prenatal testing has been evaluated for detection of sex chromosome aneuploidies such as TS. These techniques using sequencing or single-nucleotide polymorphism array analysis of cell-free fetal DNA in maternal blood were shown to have a relatively low detection rate (90%) and positive predictive value (23%) in a recent meta-analysis. Invasive testing continues to be the recommended method for investigation of fetal karyotype.

• #30 Turner Syndrome (Monosomy X) | Condition | Unity Screen

  https://www.unityscreen.com/conditions/turner-syndrome

  Turner syndrome prenatal screening through UNITY Aneuploidy Screen can help expecting parents understand if their baby is at high-risk for this condition at 9+ weeks into pregnancy. […] UNITY Aneuploidy Screen is a type of non-invasive prenatal testing (NIPT) that can detect the risk of a developing baby having Turner syndrome as early as 9 weeks into pregnancy. […] The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant people be offered screening for chromosomal abnormalities, which includes Turner syndrome. […] UNITY Aneuploidy Screen is highly accurate Turner syndrome genetic testing option that can identify pregnancies as high-risk for Turner syndrome. However, it is important to note that a positive result does not definitively mean that the baby has Turner syndrome. […] If UNITY Aneuploidy Screen results show a higher chance for a developing baby to have Turner syndrome, it’s recommended that you discuss the results and the implications with your healthcare provider.

• #31 Diagnosing Turner Syndrome – Turner Syndrome Foundation Email EmailEvent Series

  https://turnersyndromefoundation.org/what_is_turner_syndrome/diagnosing/?srsltid=AfmBOoppQgKICreCuKB3GZmokDBkFBSBJLT5nxtGnpvDFtpkBmGiZucs

  Screening for Turner Syndrome should not be delayed, as there are other important health screenings of organ and lipid function, and interventions that could benefit a young child that would not have the same effect in an older child. […] If a child exhibits common traits indicated, she should be screened without delay to rule out this potential syndrome. […] Genetic testing may be performed prenatally or sometime after birth. […] Ideally, a person who undergoes a genetic test will discuss the meaning of the test and its results with a genetic counselor.

• #32 Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol) | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02423-5

  To confirm the diagnosis by blood karyotyping or a FISH test on the sex chromosomes. The diagnosis should be announced as part of the overall management process. The management of patients with TS requires collaboration between several healthcare providers. The attending physician, in collaboration with the national care network, will ensure that the patient receives optimal care through regular follow-up and screening. […] The attending physician should refer the patient for consultation with a hospital specialist (a pediatric endocrinologist with specialist experience with TS, an adult endocrinologist, or a medical gynecologist) for definitive diagnosis, information of the patient and specialized multidisciplinary management.

• #33 Late to Diagnosis: Turner Syndrome | Children’s Hospital of Philadelphia

  https://www.chop.edu/news/late-diagnosis-turner-syndrome

  A 9-year-old girl presents for annual well visit. Mother expresses a concern for her daughter’s short stature. […] Discussion: The diagnosis is Turner syndrome (TS). […] Turner syndrome is a syndromic condition resulting from complete or partial absence of the second sex chromosome. Diagnosis is made by chromosome analysis. […] Since short stature is the most common presenting sign of Turner syndrome, a chromosome analysis is indicated in all girls. […] Newly diagnosed patients with TS require endocrinology, genetics, and cardiology evaluations and a baseline renal ultrasound. […] Treatment of short stature includes growth hormone therapy, which can improve final height. Hormonal therapy to initiate and maintain puberty is indicated if gonadal dysgenesis results in lack of spontaneous pubertal onset or incomplete puberty.

• #34 Comprehensive Oral Diagnosis and Management for Women with Turner Syndrome

  https://www.mdpi.com/2075-4418/14/7/769

  Turner Syndrome (TS) is a rare genetic disorder that affects females when one of the X chromosomes is partially or completely missing. Due to high genetic and phenotypic variability, TS diagnosis is challenging and is often delayed until adolescence, resulting in poor clinical management. […] TS diagnosis remains challenging and is often delayed until adolescence. In Spain, the mean average age of diagnosis is 15 years old. In numerous instances, Turner syndrome goes undiagnosed until women encounter fertility issues, while some cases remain entirely undetected. […] The timing of the congenital tooth anomalies reported makes the 9 to 10 years period critical for the diagnostic and clinical management of Turner syndrome in female subjects. […] The clinical management of rare diseases must be carried out by multidisciplinary teams including a wide variety of Health specialists to ensure the comprehensive care of its numerous pathologies.

• #35 Turner Syndrome: Symptoms, Tests, and Treatment

  https://patient.info/childrens-health/turner-syndrome-leaflet

  These include a yearly check of thyroid function, liver function, cholesterol and glucose levels. Every 2-4 years, a blood test for coeliac disease is also advised. A blood test for female hormones may also be done to assess whether the ovaries are working or not. […] A hearing assessment needs to be done at diagnosis and then every 1-5 years depending on the detection of any hearing loss. If frequent ear infections develop, a specialist review and further treatment may be needed. […] This is usually done by a heart specialist (cardiologist) and includes tests such as an ultrasound of the heart (echocardiogram), blood pressure check, tracing of the electrical activity of the heart (electrocardiogram, or ECG) and MRI scan of the heart. […] An ultrasound scan of the kidneys is usually done when Turner syndrome is diagnosed, to assess for abnormalities with the kidneys and urinary tract. […] For young children with Turner syndrome this will mean testing by the doctor for hip dislocations. Teenagers need to be assessed for a curvature of the spine (scoliosis). Bone density scans to check for osteoporosis are also advised.

• #35 Turner Syndrome: Symptoms, Tests, and Treatment

  https://patient.info/childrens-health/turner-syndrome-leaflet

  How is Turner syndrome diagnosed? […] Turner syndrome may be suspected by your doctor if a girl has some of the above features. The diagnosis can be confirmed by a test called karyotype testing. This involves a sample being taken either from the amniotic fluid around a baby in the womb (uterus), or from a blood sample in children. […] Turner syndrome can be diagnosed before a baby is born, using a test called amniocentesis. Turner syndrome may also be suspected during pregnancy on a routine ultrasound scan if the scan shows any problems with the heart or kidney that are typical of Turner syndrome. […] Because there are a number of possible complications of Turner syndrome, certain tests are usually done to diagnose Turner syndrome. Some other tests are then done on a regular basis, sometimes yearly for the rest of your life. The tests include the following:

• #36 Turner Syndrome | Children’s Hospital Los Angeles

  https://www.chla.org/turner-syndrome

  Doctors may diagnose Turner syndrome in females: […] Early diagnosis allows doctors to monitor and treat children with TS for potentially serious medical complications that may arise. […] The Clinical Practice Guidelines for TS recommends testing for Turner syndrome if your daughter has: […] Doctors may use the following tests to diagnose your child: […] A doctor looks for physical signs of TS. […] This blood test looks at the number and structure of your child’s complete set of chromosomes. Karyotyping is the standard method for diagnosing monosomy X and some types of mosaicism. […] Sometimes the blood karyotype test does not provide a definitive diagnosis for mosaic TS. In these cases, doctors may take skin cells or a cheek swab to get more tissue samples for karyotyping. […] Doctors may use MRI scans to look for common liver, kidney and heart defects that are associated with TS.

• #37 Turner syndrome

  https://www.internetmedicin.se/endokrinologi-och-diabetologi/turner-syndrome

  Blood samples for FSH and LH (both elevated in Turner syndrome) should be taken to verify primary ovarian insufficiency. These gonadotropins are often inhibited by estrogen hormone replacement. Prolactin is checked initially. […] Examination of the heart and aortae is important. An echocardiography (UCG) and a magnetic resonance imaging (MRI) scan should be performed. […] Blood pressure is checked annually. Treatment is started irrespective of age if elevated blood pressure is present. […] Ultrasound of the kidneys is recommended initially. […] Height and body weight are checked annually. […] Hearing test, audiometry, should be done every 5th year. […] Bone measurement, preferably with DXA, should be performed after transfer to the adult clinic or when the Turner syndrome is diagnosed in adulthood. […] Blood sampling yearly: Thyroid function (free T4, TSH, TPO) and hemoglobin. […] Targeted extended sampling is performed if something indicates further examination.

• #38 Orphanet: Turner syndrome

  https://www.orpha.net/en/disease/detail/881

  Early diagnosis is beneficial, as it is recommended to start recombinant growth hormone therapy (GH) around 4-6 years and preferably before 12-13 years in case of growth failure. […] Early diagnosis, timely pubertal induction, successful transition to adult care, and long-term follow-up by a multidisciplinary team are key elements in the achievement of optimal growth, psychosocial milestones and fertility.

• #39 Clinical and genetic aspects of Turner’s syndrome | Medicina Universitaria

  https://www.elsevier.es/en-revista-medicina-universitaria-304-articulo-clinical-genetic-aspects-turner39s-syndrome-S1665579616300503

  Turner’s syndrome, or monosomy X, is defined as the total or partial loss of the second sex chromosome. […] Currently, the delay in the diagnosis of Turner’s syndrome remains a problem, as only 15-30% of patients are diagnosed during their first year of life. […] This paper reviews the main clinical characteristics, diagnostic tools and advances in the study of its underlying genetic factors. […] Diagnosis is suspected in the function of clinical and hormonal findings. However, it requires a confirmation, by a conventional Karyotype (GTG bands) or other cytogenetic analysis, of the subjacent aneuploidy. […] Approximately 36% of women with TS have a 45X/46, XY mosaic and with it the risk of presenting gonadoblastoma throughout their lives is between 7% and 30%. […] Prenatal diagnosis includes certain ultrasonographic findings which suggest TS. […] Even in countries where prenatal diagnosis is common, reports show that between 15-30% of patients are not diagnosed until after 12 years of age. […] There are molecular techniques which may be applied to neonatal detection of aneuploidies of sexual chromosomes, thus defeating diagnostic delay.

• #40 Understanding a Turner Syndrome Diagnosis

  https://understandingturnersyndrome.org/

  Before or after prenatal testing, expectant parents can talk to their medical providers about how they plan to use the information. Some might use prenatal test results to prepare or make specific delivery plans. […] Genetic test results involve complex conversations and information about chromosomes. Health professionals can be important guides along the way. They can look at the specific karyotype or microarray (chromosome map) to explain more details about the diagnosis.

• #41 Turner Syndrome – Carrying To Term

  https://carryingtoterm.org/diagnosis-glossary/turner-syndrome/

  Turner syndrome can be assessed in the first and second trimester via ultrasound and maternal serum screenings. A diagnosis can be made through fetal karyotype tests like amniocentesis or chorionic villus sampling (CVS). […] Parental genetic counseling is recommended prior to subsequent pregnancies.

• #42 New Test Shows Promise for Accurate Diagnosis of Turner Syndrome < Yale School of Medicine

  https://medicine.yale.edu/news-article/new-test-shows-promise-for-accurate-diagnosis-of-turner-syndrome/

  As a child grows, a short stature is not usually cause for concern, but it is often the only sign of a condition called Turner syndrome. […] Yale School of Medicine researchers are aiming to close this lag time with a new inexpensive, accurate and practical diagnostic test for Turner syndrome that can be done in a doctor’s office. […] „We’ve developed a practical test that can be used to test large numbers of girls, and is much quicker and less expensive than the current method called cytogenetic analysis by karyotype,” said the study’s lead author Scott Rivkees, M.D., professor of pediatrics at Yale School of Medicine. […] „Because of the small amount of DNA needed for the test, sample DNA can be extracted from cheek swabs, or from newborn screening blood spots that are routinely collected,” Rivkees said. „If broadly used in the clinical setting at young ages, this test can prevent the delayed recognition of TS.”

• #43 The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02673-0

  The difference between patient height standard deviation score (SDS) and target height SDS (TH SDS) is also a simple tool which can be used in the evaluation of short-stature patients, and was a valuable guide in this rare case, allowing us to proceed with further evaluations. […] This case also points out that the first examination should always be as thorough as possible, and physicians should not rely solely on the diagnosis and investigations previously performed. […] It is crucial that physicians, and endocrinologists in particular, consider ruling out TS in every short girl even if they have no other somatic signs of TS, especially if the diagnosis is in doubt or the response to the usual treatment is not acceptable.

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