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. […] […] EPIDEMIOLOGY […] […] Prevalence – TS occurs in approximately 1 in 2000 to 1 in 3000 live female births, based on epidemiologic and newborn genetic screening data from Europe, Japan, and the United States. The true prevalence remains difficult to ascertain because patients with a milder phenotype may remain undiagnosed or may be diagnosed only in late adulthood. In addition, the prevalence at birth may be declining in some countries due to prenatal diagnosis and subsequent elective termination. Up to 42 percent of TS individuals are now being detected prenatally by first-trimester testing (mainly using noninvasive prenatal testing [NIPT]). […]

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

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

  Turner syndrome is one of the most common chromosomal abnormalities, occurring in approximately 1 in 2000 live-born female infants. […] The frequency of Turner syndrome is approximately 1 in 2000 live-born female infants. […] Mortality associated with Turner syndrome may be increased in the neonatal period because of hypoplastic left heart and coarctation of the aorta and in adulthood because of cardiovascular disease, particularly aortic dissection. […] Although congenital cardiovascular malformations and aortic dilatation are common among patients with Turner syndrome, they are often undiagnosed until later in life, pointing to the need for a more systematic approach to cardiovascular monitoring. […] Patients with Turner syndrome require screening for commonly associated chronic diseases. Early preventive care and treatment are also essential.

• #3 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. […] The incidence is estimated at 1:2000-5000 of live births, although the in utero rate is much higher (1-2% of conceptions) due to a significant proportion of affected fetuses aborting by the 2nd trimester. […] Individuals with Turner syndrome have greater risk of autoimmune disease than the general population, leading to increased rates of type 1 diabetes mellitus, inflammatory bowel disease, hypothyroidism and other autoimmune diseases in this cohort. […] The cardiovascular anomalies commonly seen in Turner syndrome (e.g. aortic coarctation, bicuspid aortic valve) lead to increased prevalence of systemic hypertension in affected patients.

• #4 Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10405780/

  The lack of United States population-based data on Turner syndrome limits assessments of prevalence and associated characteristics for this sex chromosome abnormality. […] We estimated the prevalence of karyotype-confirmed Turner syndrome diagnosed within the first year of life. […] The prevalence of Turner syndrome of any pregnancy outcome was 3.2 per 10,000 female live births (95% CI = 3.0-3.3, program range: 1.0-10.4), and 1.9 for live birth and stillbirth (20 weeks gestation) cases (95% CI = 1.8-2.1, program range: 0.2-3.9). […] The findings from this population-based study may inform surveillance practices, prenatal counseling, and diagnosis. […] We also identified racial and ethnic disparities in prevalence, an observation that warrants further investigation. […] The primary objective of our study was to provide more evidence-based data on Turner syndrome for research and clinical knowledge.

• #5 Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network

  https://stacks.cdc.gov/view/cdc/131789

  The lack of United States population-based data on Turner syndrome limits assessments of prevalence and associated characteristics for this sex chromosome abnormality. […] We estimated the prevalence of karyotype-confirmed Turner syndrome diagnosed within the first year of life. […] The prevalence of Turner syndrome of any pregnancy outcome was 3.2 per 10,000 female live births (95% CI = 3.0-3.3, program range: 1.0-10.4), and 1.9 for live birth and stillbirth (20 weeks gestation) cases (95% CI = 1.8-2.1, program range: 0.2-3.9). […] Prevalence was lowest among cases born to non-Hispanic Black women compared to non-Hispanic White women (PR = 0.5, 95% CI = 0.4-0.6). […] The findings from this population-based study may inform surveillance practices, prenatal counseling, and diagnosis. […] We also identified racial and ethnic disparities in prevalence, an observation that warrants further investigation.

• #6 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. […] […] EPIDEMIOLOGY […] […] Prevalence – TS occurs in approximately 1 in 2000 to 1 in 3000 live female births, based on epidemiologic and newborn genetic screening data from Europe, Japan, and the United States. The true prevalence remains difficult to ascertain because patients with a milder phenotype may remain undiagnosed or may be diagnosed only in late adulthood. In addition, the prevalence at birth may be declining in some countries due to prenatal diagnosis and subsequent elective termination. Up to 42 percent of TS individuals are now being detected prenatally by first-trimester testing (mainly using noninvasive prenatal testing [NIPT]). […]

• #7 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. […] […] EPIDEMIOLOGY […] […] Prevalence – TS occurs in approximately 1 in 2000 to 1 in 3000 live female births, based on epidemiologic and newborn genetic screening data from Europe, Japan, and the United States. The true prevalence remains difficult to ascertain because patients with a milder phenotype may remain undiagnosed or may be diagnosed only in late adulthood. In addition, the prevalence at birth may be declining in some countries due to prenatal diagnosis and subsequent elective termination. Up to 42 percent of TS individuals are now being detected prenatally by first-trimester testing (mainly using noninvasive prenatal testing [NIPT]). […]

• #8 Turner Syndrome: Symptoms and Treatment | Doctor

  https://patient.info/doctor/turner-syndrome-pro

  Turner syndrome is estimated to occur in 25 to 210 per 100,000 women, according to cytogenetic studies. According to a study from 1999 to 2004, the incidence in 119,158 births was 1/1,180 or 0.85%. […] It has been estimated that 1-2% of all conceptuses are affected, of whom only 1% will survive to term. […] Turner syndrome is obviously a lifelong condition and, although the majority of patients are healthy, they are susceptible to a number of chronic conditions. For this reason, multidisciplinary follow-up is required as an exercise in screening and prevention, as well as treatment where necessary. […] The need for long-term surveillance and awareness of associated conditions should be promoted. Regular renal ultrasound, and screening for impaired glucose tolerance and hypertension are recommended.

• #9 Turner syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Turner_syndrome

  Turner syndrome occurs in between one in 2,000 and one in 5,000 females at birth. […] Approximately 99 percent of fetuses with Turner syndrome spontaneously terminate during the first trimester. Turner syndrome accounts for about 10 percent of the total number of spontaneous abortions in the United States.

• #10 Turner Syndrome | Concise Medical Knowledge

  https://www.lecturio.com/concepts/turner-syndrome/

  Incidence: 1 in 2,000-2,500 live births. […] 99% spontaneously abort. […] Most frequent gonadal chromosome anomaly in women. […] Only 1 normal X chromosome is present; the other is missing or impaired. […] Complete sex chromosomal monosomy in approximately 45% of live births: 45,X. […] Sex chromosomal mosaicism in approximately 50% of live births: Most commonly 46,XX with 45,X. […] Nearly 70% of cases are due to meiotic nondisjunction of paternal sex chromosomes; i.e., the paternal X chromosome is lost. […] No known risk factors.

• #11 Turner syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Turner_syndrome

  Turner syndrome occurs in between one in 2,000 and one in 5,000 females at birth. […] Approximately 99 percent of fetuses with Turner syndrome spontaneously terminate during the first trimester. Turner syndrome accounts for about 10 percent of the total number of spontaneous abortions in the United States.

• #12 Turner syndrome epidemiology and demographics – wikidoc

  https://fr.wikidoc.org/index.php/Turner_syndrome_epidemiology_and_demographics

  The incidence rate of Turner syndrome is 1 of 2500 live births. Turner Syndrome patients have a higher mortality rate compared to the general population. […] Studies have shown that 30 percent of the time, Turner syndrome remains undiagnosed till adolescence. Therefore, its true prevalence rate cannot be estimated. […] The prenatal prevalence is much higher than the postnatal prevalence and the intrauterine mortality rate is higher when compared to the patients of the same age. […] Approximately 98% of all fetuses with Turner syndrome spontaneously abort. Turner syndrome accounts for about 10% of the total number of spontaneous abortions in the United States.

• #13 Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network

  https://stacks.cdc.gov/view/cdc/131789

  The lack of United States population-based data on Turner syndrome limits assessments of prevalence and associated characteristics for this sex chromosome abnormality. […] We estimated the prevalence of karyotype-confirmed Turner syndrome diagnosed within the first year of life. […] The prevalence of Turner syndrome of any pregnancy outcome was 3.2 per 10,000 female live births (95% CI = 3.0-3.3, program range: 1.0-10.4), and 1.9 for live birth and stillbirth (20 weeks gestation) cases (95% CI = 1.8-2.1, program range: 0.2-3.9). […] Prevalence was lowest among cases born to non-Hispanic Black women compared to non-Hispanic White women (PR = 0.5, 95% CI = 0.4-0.6). […] The findings from this population-based study may inform surveillance practices, prenatal counseling, and diagnosis. […] We also identified racial and ethnic disparities in prevalence, an observation that warrants further investigation.

• #14 Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10405780/

  The lack of United States population-based data on Turner syndrome limits assessments of prevalence and associated characteristics for this sex chromosome abnormality. […] We estimated the prevalence of karyotype-confirmed Turner syndrome diagnosed within the first year of life. […] The prevalence of Turner syndrome of any pregnancy outcome was 3.2 per 10,000 female live births (95% CI = 3.0-3.3, program range: 1.0-10.4), and 1.9 for live birth and stillbirth (20 weeks gestation) cases (95% CI = 1.8-2.1, program range: 0.2-3.9). […] The findings from this population-based study may inform surveillance practices, prenatal counseling, and diagnosis. […] We also identified racial and ethnic disparities in prevalence, an observation that warrants further investigation. […] The primary objective of our study was to provide more evidence-based data on Turner syndrome for research and clinical knowledge.

• #15

  https://www.exonpublications.com/index.php/exon/article/view/turner-syndrome-risk-factors-causes-symptoms-treatment

  Turner Syndrome is relatively rare, affecting approximately 1 in 2,500 live female births worldwide. It occurs across all ethnic and geographic groups. The condition is more common during pregnancy, but many affected pregnancies result in miscarriage, making it underrepresented in live births. Turner Syndrome is the most common chromosomal disorder affecting females, and increased awareness and advances in genetic testing have improved diagnosis rates over time. […] Diagnosing Turner Syndrome typically involves a combination of physical examinations, medical history, and genetic testing. Doctors may suspect Turner Syndrome based on characteristic features such as short stature, delayed puberty, or certain physical traits. A karyotype test, which examines the number and structure of chromosomes, is the most definitive method for diagnosing the condition. Prenatal diagnosis is also possible through procedures such as amniocentesis or chorionic villus sampling, which analyze fetal chromosomes. Early diagnosis allows for timely treatment and better management of symptoms and complications.

• #16 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. […] […] EPIDEMIOLOGY […] […] Prevalence – TS occurs in approximately 1 in 2000 to 1 in 3000 live female births, based on epidemiologic and newborn genetic screening data from Europe, Japan, and the United States. The true prevalence remains difficult to ascertain because patients with a milder phenotype may remain undiagnosed or may be diagnosed only in late adulthood. In addition, the prevalence at birth may be declining in some countries due to prenatal diagnosis and subsequent elective termination. Up to 42 percent of TS individuals are now being detected prenatally by first-trimester testing (mainly using noninvasive prenatal testing [NIPT]). […]

• #17 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. It is one of the more commonly occurring chromosomal aneuploidies. […] […] EPIDEMIOLOGY […] […] Prevalence – TS occurs in approximately 1 in 2000 to 1 in 3000 live female births, based on epidemiologic and newborn genetic screening data from Europe, Japan, and the United States. The true prevalence remains difficult to ascertain because patients with a milder phenotype may remain undiagnosed or may be diagnosed only in late adulthood. In addition, the prevalence at birth may be declining in some countries due to prenatal diagnosis and subsequent elective termination. Up to 42 percent of TS individuals are now being detected prenatally by first-trimester testing (mainly using noninvasive prenatal testing [NIPT]). […]

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

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

  Genetic epidemiology – Most individuals with TS have a karyotype consisting of only 45,X cells (monosomy X). Approximately one-half of all patients with TS have mosaic genotypes. In these cases, 45,X cells co-occur with cells containing other chromosome complements (eg, 45,X/46,XX or 45,X/47,XXX) or abnormally rearranged X chromosomes.

• #19 Turner Syndrome | Concise Medical Knowledge

  https://www.lecturio.com/concepts/turner-syndrome/

  Incidence: 1 in 2,000-2,500 live births. […] 99% spontaneously abort. […] Most frequent gonadal chromosome anomaly in women. […] Only 1 normal X chromosome is present; the other is missing or impaired. […] Complete sex chromosomal monosomy in approximately 45% of live births: 45,X. […] Sex chromosomal mosaicism in approximately 50% of live births: Most commonly 46,XX with 45,X. […] Nearly 70% of cases are due to meiotic nondisjunction of paternal sex chromosomes; i.e., the paternal X chromosome is lost. […] No known risk factors.

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

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

  Genetic epidemiology – Most individuals with TS have a karyotype consisting of only 45,X cells (monosomy X). Approximately one-half of all patients with TS have mosaic genotypes. In these cases, 45,X cells co-occur with cells containing other chromosome complements (eg, 45,X/46,XX or 45,X/47,XXX) or abnormally rearranged X chromosomes.

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

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

  Genetic epidemiology – Most individuals with TS have a karyotype consisting of only 45,X cells (monosomy X). Approximately one-half of all patients with TS have mosaic genotypes. In these cases, 45,X cells co-occur with cells containing other chromosome complements (eg, 45,X/46,XX or 45,X/47,XXX) or abnormally rearranged X chromosomes. These structural abnormalities are described using the following notation: Partial deletion of an X chromosome: del(p22.3).

• #22 Mosaic Turner Syndrome: What It Is and How It’s Treated

  https://www.healthline.com/health/childrens-health/mosaic-turner-syndrome

  Turner syndrome is rare. It affects roughly 1 in every 2,000 to 2,500 female births across the globe. […] A 2013 study found that between 30% and 40% of people with Turner syndrome have the mosaic form. […] Diagnosis is often made after a baby is born, in either childhood or adolescence. The physical features of infants with Turner syndrome may be recognizable at birth or emerge during infancy. […] In some cases, a doctor may diagnose Turner syndrome before a baby is born through prenatal genetic testing. […] A 2018 study involving people with mosaic Turner syndrome found that treatment may not be necessary particularly in cases when the syndrome is found by chance. […] Early diagnosis and treatment can help with growth and development issues before and during puberty.

• #23 Turner Syndrome | Concise Medical Knowledge

  https://www.lecturio.com/concepts/turner-syndrome/

  Incidence: 1 in 2,000-2,500 live births. […] 99% spontaneously abort. […] Most frequent gonadal chromosome anomaly in women. […] Only 1 normal X chromosome is present; the other is missing or impaired. […] Complete sex chromosomal monosomy in approximately 45% of live births: 45,X. […] Sex chromosomal mosaicism in approximately 50% of live births: Most commonly 46,XX with 45,X. […] Nearly 70% of cases are due to meiotic nondisjunction of paternal sex chromosomes; i.e., the paternal X chromosome is lost. […] No known risk factors.

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

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

  Turner syndrome (TS) is a genetic condition that occurs in approximately one in 2,500 live-born females. […] Individuals with TS have increased morbidity and mortality compared to the general population necessitating increased awareness and improvements in clinical care. […] Clinical care guidelines for TS are available which recommend life-long surveillance for TS associated problems with screening tests at specific ages, as well as management recommendations for comorbidities. […] Clinical surveillance for associated co-morbidities is recommended in all patients regardless of karyotype. […] Individuals with TS should be evaluated at diagnosis by a pediatric cardiologist with expertise in TS related heart disease, and receive ongoing monitoring for screening and management of cardiovascular disease.

• #25 Turner Syndrome Adult Care Center | UT Physicians

  https://www.utphysicians.com/turner-syndrome-care-center/

  The UT Physicians Turner Syndrome Adult Comprehensive Care Center (TSACCC) brings together a multidisciplinary team of specialists to give you coordinated and complete care. […] Regular tests of your heart and blood vessels by a cardiologist are recommended for all people with TS. […] Regular screening of thyroid hormone levels (TSH and T4 tests) are recommended for everyone with TS, as they can develop any time in life and cause serious health problems if untreated. […] Many young adult women with TS do not receive recommended age-appropriate screening for TS-related conditions. […] Please see the Turner Syndrome Healthcare Checklist for practical guidance on what you need to transition successfully to adult care. […] Regular physical examinations by an experienced physician are important. […] There is no protocol for surveillance of gonadoblastoma that has been proven to be effective in the early detection of gonadoblastoma.

• #26

  https://www.exonpublications.com/index.php/exon/article/view/turner-syndrome-risk-factors-causes-symptoms-treatment

  Turner Syndrome is relatively rare, affecting approximately 1 in 2,500 live female births worldwide. It occurs across all ethnic and geographic groups. The condition is more common during pregnancy, but many affected pregnancies result in miscarriage, making it underrepresented in live births. Turner Syndrome is the most common chromosomal disorder affecting females, and increased awareness and advances in genetic testing have improved diagnosis rates over time. […] Diagnosing Turner Syndrome typically involves a combination of physical examinations, medical history, and genetic testing. Doctors may suspect Turner Syndrome based on characteristic features such as short stature, delayed puberty, or certain physical traits. A karyotype test, which examines the number and structure of chromosomes, is the most definitive method for diagnosing the condition. Prenatal diagnosis is also possible through procedures such as amniocentesis or chorionic villus sampling, which analyze fetal chromosomes. Early diagnosis allows for timely treatment and better management of symptoms and complications.

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

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

  Turner syndrome occurs in approximately 1/2500 live female births worldwide (1, 2). However, 99% of 45,X conceptions abort spontaneously. […] Diagnosis is confirmed by cytogenetic analysis (karyotyping, FISH analysis, and/or chromosomal microarray analysis). […] Echocardiography or MRI is indicated to detect cardiac anomalies and for ongoing surveillance. […] Certain routine evaluations help identify problems that may be associated with Turner syndrome (1): Cardiology evaluation with echocardiography and ECG at time of diagnosis, and ongoing evaluation to monitor for conduction abnormalities and aortic dilation. […] 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). These people are usually phenotypic females who may have variable features of Turner syndrome. They are at an increased risk of gonadal tumors, especially gonadoblastomas, some of which may become malignant. Because of this potential for cancer, prophylactic gonad removal, although controversial, is often recommended. […] Do routine age-specific screening to detect associated medical conditions (eg, cardiac and renal anomalies).

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

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

  Turner syndrome affects 1 in 2,000 to 1 in 2,500 female babies. Its the most common sex chromosome-related condition that affects infant girls. […] Healthcare providers may diagnose Turner syndrome at any stage of a childs 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. […] Its important to remember that no two people with Turner syndrome are affected in the same way. Its impossible to predict how itll affect your child. The best way you can prepare is to talk to healthcare providers who specialize in Turner syndrome.

• #29

  https://www.exonpublications.com/index.php/exon/article/view/turner-syndrome-risk-factors-causes-symptoms-treatment

  Turner Syndrome is relatively rare, affecting approximately 1 in 2,500 live female births worldwide. It occurs across all ethnic and geographic groups. The condition is more common during pregnancy, but many affected pregnancies result in miscarriage, making it underrepresented in live births. Turner Syndrome is the most common chromosomal disorder affecting females, and increased awareness and advances in genetic testing have improved diagnosis rates over time. […] Diagnosing Turner Syndrome typically involves a combination of physical examinations, medical history, and genetic testing. Doctors may suspect Turner Syndrome based on characteristic features such as short stature, delayed puberty, or certain physical traits. A karyotype test, which examines the number and structure of chromosomes, is the most definitive method for diagnosing the condition. Prenatal diagnosis is also possible through procedures such as amniocentesis or chorionic villus sampling, which analyze fetal chromosomes. Early diagnosis allows for timely treatment and better management of symptoms and complications.

• #30 Mosaic Turner Syndrome: What It Is and How It’s Treated

  https://www.healthline.com/health/childrens-health/mosaic-turner-syndrome

  Turner syndrome is rare. It affects roughly 1 in every 2,000 to 2,500 female births across the globe. […] A 2013 study found that between 30% and 40% of people with Turner syndrome have the mosaic form. […] Diagnosis is often made after a baby is born, in either childhood or adolescence. The physical features of infants with Turner syndrome may be recognizable at birth or emerge during infancy. […] In some cases, a doctor may diagnose Turner syndrome before a baby is born through prenatal genetic testing. […] A 2018 study involving people with mosaic Turner syndrome found that treatment may not be necessary particularly in cases when the syndrome is found by chance. […] Early diagnosis and treatment can help with growth and development issues before and during puberty.

• #31 Orphanet: Turner syndrome

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

  Prevalence is about 5/10 000 live female births. Incidence among all conceptions is higher, since aneuploidy is a common cause of spontaneous abortion. […] Monitoring of aortic root diameters indexed to body surface area is recommended, since aortic bicuspidy, coarctation and hypertension may lead to aortic root dilatation and ultimately to aortic dissection. […] 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.

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

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

  Turner syndrome is one of the most common chromosomal abnormalities, occurring in approximately 1 in 2000 live-born female infants. […] The frequency of Turner syndrome is approximately 1 in 2000 live-born female infants. […] Mortality associated with Turner syndrome may be increased in the neonatal period because of hypoplastic left heart and coarctation of the aorta and in adulthood because of cardiovascular disease, particularly aortic dissection. […] Although congenital cardiovascular malformations and aortic dilatation are common among patients with Turner syndrome, they are often undiagnosed until later in life, pointing to the need for a more systematic approach to cardiovascular monitoring. […] Patients with Turner syndrome require screening for commonly associated chronic diseases. Early preventive care and treatment are also essential.

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

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

  Turner syndrome (TS) is a genetic condition that occurs in approximately one in 2,500 live-born females. […] Individuals with TS have increased morbidity and mortality compared to the general population necessitating increased awareness and improvements in clinical care. […] Clinical care guidelines for TS are available which recommend life-long surveillance for TS associated problems with screening tests at specific ages, as well as management recommendations for comorbidities. […] Clinical surveillance for associated co-morbidities is recommended in all patients regardless of karyotype. […] Individuals with TS should be evaluated at diagnosis by a pediatric cardiologist with expertise in TS related heart disease, and receive ongoing monitoring for screening and management of cardiovascular disease.

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

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

  Turner syndrome occurs in approximately 1/2500 live female births worldwide (1, 2). However, 99% of 45,X conceptions abort spontaneously. […] Diagnosis is confirmed by cytogenetic analysis (karyotyping, FISH analysis, and/or chromosomal microarray analysis). […] Echocardiography or MRI is indicated to detect cardiac anomalies and for ongoing surveillance. […] Certain routine evaluations help identify problems that may be associated with Turner syndrome (1): Cardiology evaluation with echocardiography and ECG at time of diagnosis, and ongoing evaluation to monitor for conduction abnormalities and aortic dilation. […] 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). These people are usually phenotypic females who may have variable features of Turner syndrome. They are at an increased risk of gonadal tumors, especially gonadoblastomas, some of which may become malignant. Because of this potential for cancer, prophylactic gonad removal, although controversial, is often recommended. […] Do routine age-specific screening to detect associated medical conditions (eg, cardiac and renal anomalies).

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

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

  Turner syndrome (TS) is a genetic condition that occurs in approximately one in 2,500 live-born females. […] Individuals with TS have increased morbidity and mortality compared to the general population necessitating increased awareness and improvements in clinical care. […] Clinical care guidelines for TS are available which recommend life-long surveillance for TS associated problems with screening tests at specific ages, as well as management recommendations for comorbidities. […] Clinical surveillance for associated co-morbidities is recommended in all patients regardless of karyotype. […] Individuals with TS should be evaluated at diagnosis by a pediatric cardiologist with expertise in TS related heart disease, and receive ongoing monitoring for screening and management of cardiovascular disease.

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

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

  A generalized vasculopathy is thought to affect individuals with TS, predisposing to aortic dilation and increased risk of aortic dissection. […] Patients should receive ongoing screening for these comorbidities as well as counseling about healthy lifestyle choices including regular cardiovascular exercise, healthy diet and avoidance of smoking. […] Neuropsychological testing is recommended at preschool age, entry to elementary school, transition to high school, or any time that academic difficulties come to attention. […] Given the complexities of care in these individuals, a multidisciplinary, consolidated approach is optimal.

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

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

  Turner syndrome is a syndromic condition resulting from complete or partial absence of the second sex chromosome. Diagnosis is made by chromosome analysis. The most common features of Turner syndrome include significant short stature, gonadal dysgenesis and ovarian failure leading to lack of or incomplete puberty, cardiac anomalies, and renal anomalies. 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. Patients are managed by the Division of Endocrinology for treatment of growth and pubertal issues but also for overall disease management and surveillance. […] There is a higher incidence of autoimmune disorders, including acquired hypothyroidism, celiac disease, and diabetes. Screening for these conditions will be required every 1 to 2 years depending on age.

• #38

  https://tss.org.uk/index.php/information/healthcare?srsltid=AfmBOooI9RS0hTEZ4GcLMB5vlGXTkODV4u_PbtgivHTIUBkoiZblWFyq

  Turner’s syndrome affects about one in 2,000 females in the United Kingdom, causing short stature and infertility. […] Most women with Turner’s syndrome first come under the care of a paediatrician but subsequent care can be very fragmented. For many years, therefore, the health issues that affect older women with Turner’s syndrome have been neglected. […] While women with Turner’s syndrome can expect to live a long and healthy life, there are several disorders which are known to be particularly common, many of which are preventable if simple health checks are undertaken. The problems that are more common in an adult with Turner’s syndrome are being overweight, osteoporosis (thinning of the bones), high blood pressure, diabetes, an under active thyroid gland and kidney disease. […] In order to keep an eye on the disorders described above, it is suggested that every woman with Turner’s syndrome should see a doctor at least once a year for monitoring of the following: Weight and blood pressure, Urine test for glucose, Blood test for thyroid and kidney function, Review of HRT treatment, A bone mineral density measurement (every five years), Hearing tests (every 5 to 10 years).

• #39

  https://tss.org.uk/index.php/information/healthcare?srsltid=AfmBOooI9RS0hTEZ4GcLMB5vlGXTkODV4u_PbtgivHTIUBkoiZblWFyq

  Turner’s syndrome affects about one in 2,000 females in the United Kingdom, causing short stature and infertility. […] Most women with Turner’s syndrome first come under the care of a paediatrician but subsequent care can be very fragmented. For many years, therefore, the health issues that affect older women with Turner’s syndrome have been neglected. […] While women with Turner’s syndrome can expect to live a long and healthy life, there are several disorders which are known to be particularly common, many of which are preventable if simple health checks are undertaken. The problems that are more common in an adult with Turner’s syndrome are being overweight, osteoporosis (thinning of the bones), high blood pressure, diabetes, an under active thyroid gland and kidney disease. […] In order to keep an eye on the disorders described above, it is suggested that every woman with Turner’s syndrome should see a doctor at least once a year for monitoring of the following: Weight and blood pressure, Urine test for glucose, Blood test for thyroid and kidney function, Review of HRT treatment, A bone mineral density measurement (every five years), Hearing tests (every 5 to 10 years).

• #40

  https://tss.org.uk/index.php/information/healthcare?srsltid=AfmBOooI9RS0hTEZ4GcLMB5vlGXTkODV4u_PbtgivHTIUBkoiZblWFyq

  Turner’s syndrome affects about one in 2,000 females in the United Kingdom, causing short stature and infertility. […] Most women with Turner’s syndrome first come under the care of a paediatrician but subsequent care can be very fragmented. For many years, therefore, the health issues that affect older women with Turner’s syndrome have been neglected. […] While women with Turner’s syndrome can expect to live a long and healthy life, there are several disorders which are known to be particularly common, many of which are preventable if simple health checks are undertaken. The problems that are more common in an adult with Turner’s syndrome are being overweight, osteoporosis (thinning of the bones), high blood pressure, diabetes, an under active thyroid gland and kidney disease. […] In order to keep an eye on the disorders described above, it is suggested that every woman with Turner’s syndrome should see a doctor at least once a year for monitoring of the following: Weight and blood pressure, Urine test for glucose, Blood test for thyroid and kidney function, Review of HRT treatment, A bone mineral density measurement (every five years), Hearing tests (every 5 to 10 years).

• #41

  https://tss.org.uk/index.php/information/healthcare?srsltid=AfmBOooI9RS0hTEZ4GcLMB5vlGXTkODV4u_PbtgivHTIUBkoiZblWFyq

  Turner’s syndrome affects about one in 2,000 females in the United Kingdom, causing short stature and infertility. […] Most women with Turner’s syndrome first come under the care of a paediatrician but subsequent care can be very fragmented. For many years, therefore, the health issues that affect older women with Turner’s syndrome have been neglected. […] While women with Turner’s syndrome can expect to live a long and healthy life, there are several disorders which are known to be particularly common, many of which are preventable if simple health checks are undertaken. The problems that are more common in an adult with Turner’s syndrome are being overweight, osteoporosis (thinning of the bones), high blood pressure, diabetes, an under active thyroid gland and kidney disease. […] In order to keep an eye on the disorders described above, it is suggested that every woman with Turner’s syndrome should see a doctor at least once a year for monitoring of the following: Weight and blood pressure, Urine test for glucose, Blood test for thyroid and kidney function, Review of HRT treatment, A bone mineral density measurement (every five years), Hearing tests (every 5 to 10 years).

• #42

  https://tss.org.uk/index.php/information/healthcare?srsltid=AfmBOooI9RS0hTEZ4GcLMB5vlGXTkODV4u_PbtgivHTIUBkoiZblWFyq

  Turner’s syndrome affects about one in 2,000 females in the United Kingdom, causing short stature and infertility. […] Most women with Turner’s syndrome first come under the care of a paediatrician but subsequent care can be very fragmented. For many years, therefore, the health issues that affect older women with Turner’s syndrome have been neglected. […] While women with Turner’s syndrome can expect to live a long and healthy life, there are several disorders which are known to be particularly common, many of which are preventable if simple health checks are undertaken. The problems that are more common in an adult with Turner’s syndrome are being overweight, osteoporosis (thinning of the bones), high blood pressure, diabetes, an under active thyroid gland and kidney disease. […] In order to keep an eye on the disorders described above, it is suggested that every woman with Turner’s syndrome should see a doctor at least once a year for monitoring of the following: Weight and blood pressure, Urine test for glucose, Blood test for thyroid and kidney function, Review of HRT treatment, A bone mineral density measurement (every five years), Hearing tests (every 5 to 10 years).

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

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

  A generalized vasculopathy is thought to affect individuals with TS, predisposing to aortic dilation and increased risk of aortic dissection. […] Patients should receive ongoing screening for these comorbidities as well as counseling about healthy lifestyle choices including regular cardiovascular exercise, healthy diet and avoidance of smoking. […] Neuropsychological testing is recommended at preschool age, entry to elementary school, transition to high school, or any time that academic difficulties come to attention. […] Given the complexities of care in these individuals, a multidisciplinary, consolidated approach is optimal.

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

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

  Turner syndrome occurs in approximately 1/2500 live female births worldwide (1, 2). However, 99% of 45,X conceptions abort spontaneously. […] Diagnosis is confirmed by cytogenetic analysis (karyotyping, FISH analysis, and/or chromosomal microarray analysis). […] Echocardiography or MRI is indicated to detect cardiac anomalies and for ongoing surveillance. […] Certain routine evaluations help identify problems that may be associated with Turner syndrome (1): Cardiology evaluation with echocardiography and ECG at time of diagnosis, and ongoing evaluation to monitor for conduction abnormalities and aortic dilation. […] 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). These people are usually phenotypic females who may have variable features of Turner syndrome. They are at an increased risk of gonadal tumors, especially gonadoblastomas, some of which may become malignant. Because of this potential for cancer, prophylactic gonad removal, although controversial, is often recommended. […] Do routine age-specific screening to detect associated medical conditions (eg, cardiac and renal anomalies).

• #45 Care of girls and women with Turner syndrome: beyond growth and hormones in: Endocrine Connections Volume 6 Issue 4 (2017)

  https://ec.bioscientifica.com/view/journals/ec/6/4/R39.xml

  Many young women with TS are lost in transition, suggesting that successful passage from pediatric to adult care requires a special focus in TS. […] Effective coordination and continuity of healthcare during a chronically ill adolescents transition to adult care is critical for the patients medical and emotional state in adulthood. […] Young women with TS are furthermore seldom fully aware of their conditions. […] In adult life, less than 4% of patients with TS undergo all the recommended medical investigations on a regular basis. […] There are many reasons for transition failures such as poor self-advocacy or self-management, little family support or unsatisfactory cooperation between healthcare professionals and organizational structures. […] Self-care and healthcare autonomy, both considered preconditions for a successful transition, involve complex cognitive and regulatory dimensions. […] Building up a relationship of trust with new healthcare professionals, and having a social network are essential for a successful transition.

• #46 Care of girls and women with Turner syndrome: beyond growth and hormones in: Endocrine Connections Volume 6 Issue 4 (2017)

  https://ec.bioscientifica.com/view/journals/ec/6/4/R39.xml

  Many young women with TS are lost in transition, suggesting that successful passage from pediatric to adult care requires a special focus in TS. […] Effective coordination and continuity of healthcare during a chronically ill adolescents transition to adult care is critical for the patients medical and emotional state in adulthood. […] Young women with TS are furthermore seldom fully aware of their conditions. […] In adult life, less than 4% of patients with TS undergo all the recommended medical investigations on a regular basis. […] There are many reasons for transition failures such as poor self-advocacy or self-management, little family support or unsatisfactory cooperation between healthcare professionals and organizational structures. […] Self-care and healthcare autonomy, both considered preconditions for a successful transition, involve complex cognitive and regulatory dimensions. […] Building up a relationship of trust with new healthcare professionals, and having a social network are essential for a successful transition.

• #47 Care of girls and women with Turner syndrome: beyond growth and hormones in: Endocrine Connections Volume 6 Issue 4 (2017)

  https://ec.bioscientifica.com/view/journals/ec/6/4/R39.xml

  Many young women with TS are lost in transition, suggesting that successful passage from pediatric to adult care requires a special focus in TS. […] Effective coordination and continuity of healthcare during a chronically ill adolescents transition to adult care is critical for the patients medical and emotional state in adulthood. […] Young women with TS are furthermore seldom fully aware of their conditions. […] In adult life, less than 4% of patients with TS undergo all the recommended medical investigations on a regular basis. […] There are many reasons for transition failures such as poor self-advocacy or self-management, little family support or unsatisfactory cooperation between healthcare professionals and organizational structures. […] Self-care and healthcare autonomy, both considered preconditions for a successful transition, involve complex cognitive and regulatory dimensions. […] Building up a relationship of trust with new healthcare professionals, and having a social network are essential for a successful transition.

• #48 Care of girls and women with Turner syndrome: beyond growth and hormones in: Endocrine Connections Volume 6 Issue 4 (2017)

  https://ec.bioscientifica.com/view/journals/ec/6/4/R39.xml

  Many young women with TS are lost in transition, suggesting that successful passage from pediatric to adult care requires a special focus in TS. […] Effective coordination and continuity of healthcare during a chronically ill adolescents transition to adult care is critical for the patients medical and emotional state in adulthood. […] Young women with TS are furthermore seldom fully aware of their conditions. […] In adult life, less than 4% of patients with TS undergo all the recommended medical investigations on a regular basis. […] There are many reasons for transition failures such as poor self-advocacy or self-management, little family support or unsatisfactory cooperation between healthcare professionals and organizational structures. […] Self-care and healthcare autonomy, both considered preconditions for a successful transition, involve complex cognitive and regulatory dimensions. […] Building up a relationship of trust with new healthcare professionals, and having a social network are essential for a successful transition.

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

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

  Turner syndrome (TS) is a genetic condition that occurs in approximately one in 2,500 live-born females. […] Individuals with TS have increased morbidity and mortality compared to the general population necessitating increased awareness and improvements in clinical care. […] Clinical care guidelines for TS are available which recommend life-long surveillance for TS associated problems with screening tests at specific ages, as well as management recommendations for comorbidities. […] Clinical surveillance for associated co-morbidities is recommended in all patients regardless of karyotype. […] Individuals with TS should be evaluated at diagnosis by a pediatric cardiologist with expertise in TS related heart disease, and receive ongoing monitoring for screening and management of cardiovascular disease.

• #50 SciELO Brazil – Epidemiological, endocrine and metabolic features in Turner syndrome Epidemiological, endocrine and metabolic features in Turner syndrome

  https://www.scielo.br/j/abem/a/cV7LHQLLqq7TwdW4fSWx3ws/

  Currently, however, the diagnosis of TS is made more infrequent than would be expected from the original cytogenetic surveys, and a considerable delay in diagnosing girls and adolescents with the syndrome is obvious. […] Morbidity is increased in Turner syndrome. […] Mortality is also increased in Turner syndrome. […] The current knowledge of genetics in Turner syndrome does not explain a significant proportion of the phenotypical characteristics of the syndrome.

• #51

  https://link.springer.com/article/10.1007/s40618-022-01853-z

  Many questions concerning Turner syndrome (TS) remain unresolved, such as the long-term complications and, therefore, the optimal care setting for adults. The primary aim of this long-term cohort study was to estimate the incidence of comorbid conditions along the life course. […] The study cohort was followed up for a median of 27 years (IQR 1242). Autoimmune diseases were the comorbid condition with the highest incidence (61.2%), followed by osteoporosis and hypertension (23.8%), type 2 diabetes (16.2%) and tumours (15.1%). […] This cohort study confirms the need for continuous, structured and multidisciplinary lifelong monitoring of TS, thus ensuring the early diagnosis of important comorbid conditions, including cancer, and their appropriate and timely treatment. In addition, these data highlight the need for the increased surveillance of specific types of cancer in TS, including thyroid carcinoma.

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

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

  Individuals with mitral valve disease or aortic valve disease require subacute bacterial endocarditis (SBE) prophylaxis. […] In a Danish study, the overall risk of autoimmune disease among women with Turner syndrome was twice that among Danish women in general. […] No racial or ethnic predilections are known. […] Turner syndrome only occurs in females. […] As a chromosomal disorder, Turner syndrome is present at conception or following the first cell division and remains throughout life. […] Overall prognosis for patients with Turner syndrome is good. […] Life expectancy is slightly shorter than average but may be improved by attention to associated chronic illnesses, such as obesity and hypertension. […] Almost all individuals are infertile, but pregnancy with donor embryos is possible.

• #53 Endocrine autoimmunity in Turner syndrome | Italian Journal of Pediatrics | Full Text

  https://ijponline.biomedcentral.com/articles/10.1186/1824-7288-39-79

  Turner syndrome is caused by numeric and structural abnormalities of the X chromosome. An increased frequency of autoimmunity as well as an elevated incidence of autoantibodies was observed in Turner patients. The aim of this study was to conduct a retrospective analysis of the incidence of autoimmunity in 66 Italian patients affected by Turner syndrome. […] Several studies report an increased frequency of autoimmunity in TS patients possibly due to a complex interplay of genetic and environmental factors. […] Among autoimmune disorders associated with TS, Hashimotos thyroiditis has been estimated to affect around 50% of TS patients. […] The observed incidence of thyroid autoimmunity in our study was 39.4%; 21.2% of patients were affected by clinical Hashimotos thyroiditis and 18.2% by preclinical autoimmune thyroiditis.

• #54 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. […] The incidence is estimated at 1:2000-5000 of live births, although the in utero rate is much higher (1-2% of conceptions) due to a significant proportion of affected fetuses aborting by the 2nd trimester. […] Individuals with Turner syndrome have greater risk of autoimmune disease than the general population, leading to increased rates of type 1 diabetes mellitus, inflammatory bowel disease, hypothyroidism and other autoimmune diseases in this cohort. […] The cardiovascular anomalies commonly seen in Turner syndrome (e.g. aortic coarctation, bicuspid aortic valve) lead to increased prevalence of systemic hypertension in affected patients.

• #55 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. […] The incidence is estimated at 1:2000-5000 of live births, although the in utero rate is much higher (1-2% of conceptions) due to a significant proportion of affected fetuses aborting by the 2nd trimester. […] Individuals with Turner syndrome have greater risk of autoimmune disease than the general population, leading to increased rates of type 1 diabetes mellitus, inflammatory bowel disease, hypothyroidism and other autoimmune diseases in this cohort. […] The cardiovascular anomalies commonly seen in Turner syndrome (e.g. aortic coarctation, bicuspid aortic valve) lead to increased prevalence of systemic hypertension in affected patients.

• #56 Elucidating the Cancer Phenotype in Turner Syndrome: A 20-Year Observational Cohort Study | Anticancer Research

  https://ar.iiarjournals.org/content/43/11/5073

  Background/Aim: Turner syndrome confers increased cancer susceptibility; however, large-scale epidemiological evidence is lacking. This study aimed to analyze the incidence and prevalence of various malignancies in patients with Turner syndrome over 20 years of age to inform screening strategies. […] Key findings demonstrated markedly elevated risks of breast (1.7%), colon (1.0%), renal (0.4%), gonadoblastoma (0.4%), and other cancers. Significant demographic variations were observed in the incidence of cancers, such as gonadoblastoma, renal, and colon cancer. […] This large real-world study offers novel insights into the spectrum of cancer risk across adulthood in Turner syndrome. Our findings elucidate Turner syndrome’s complex cancer phenotype to inform clinical decision-making, prognostication, and tailored screening strategies to ultimately advance patient care.

• #57 Occurrence of cancer in women with Turner syndrome | British Journal of Cancer

  https://www.nature.com/articles/bjc1996222

  A study of cancer incidence in a cohort of 597 women with Turner syndrome (TS) and a virtually complete follow-up is presented. […] Information on cancer incidence was obtained from the Danish Cancer Registry and compared with the expected number calculated from the age-, period- and site-specific cancer rates for Danish women. […] A total of 21 neoplasms was observed, of which 13 occurred more than 1 year after diagnosis of TS, corresponding to a relative risk of cancer of 1.1. […] Colon cancer was observed in five patients (relative risk 6.9, 95% confidence interval 2.2-16.2). […] Further studies are needed to assess whether colon cancer in TS is related to Turner-associated genes on the sex chromosome(s).

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

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

  Turner syndrome is one of the most common chromosomal abnormalities, occurring in approximately 1 in 2000 live-born female infants. […] The frequency of Turner syndrome is approximately 1 in 2000 live-born female infants. […] Mortality associated with Turner syndrome may be increased in the neonatal period because of hypoplastic left heart and coarctation of the aorta and in adulthood because of cardiovascular disease, particularly aortic dissection. […] Although congenital cardiovascular malformations and aortic dilatation are common among patients with Turner syndrome, they are often undiagnosed until later in life, pointing to the need for a more systematic approach to cardiovascular monitoring. […] Patients with Turner syndrome require screening for commonly associated chronic diseases. Early preventive care and treatment are also essential.

• #59 Mortality ratios, life expectancy, and causes of death in patients with Turner’s syndrome. | Journal of Epidemiology & Community Health

  https://jech.bmj.com/content/40/2/97

  In a prospective study of 156 female patients with Turner’s syndrome who had survived infancy and been followed up for an average of 17 years there were 15 deaths. The expected mortality was 3.6. […] The reduction in life expectation was 12.5 years at age 1 year, 11 years at age 20, and 10 years at age 40. […] In the sample as a whole there were eight deaths from diseases of the circulatory system. This number is significantly greater than expected, but four were due to congenital heart disease. When patients with congenital heart disease were omitted from the sample the mortality from circulatory disorders was not significantly increased. Within the category of circulatory disorders there were three deaths from dissection of the aorta, a number which is greatly in excess of the expected. Two of these patients had no previous evidence of heart disease.

• #60 Mortality ratios, life expectancy, and causes of death in patients with Turner’s syndrome. | Journal of Epidemiology & Community Health

  https://jech.bmj.com/content/40/2/97

  In a prospective study of 156 female patients with Turner’s syndrome who had survived infancy and been followed up for an average of 17 years there were 15 deaths. The expected mortality was 3.6. […] The reduction in life expectation was 12.5 years at age 1 year, 11 years at age 20, and 10 years at age 40. […] In the sample as a whole there were eight deaths from diseases of the circulatory system. This number is significantly greater than expected, but four were due to congenital heart disease. When patients with congenital heart disease were omitted from the sample the mortality from circulatory disorders was not significantly increased. Within the category of circulatory disorders there were three deaths from dissection of the aorta, a number which is greatly in excess of the expected. Two of these patients had no previous evidence of heart disease.

• #61 Cardiovascular Health in Turner Syndrome – No Small Task – Professional Heart Daily | American Heart Association

  https://professional.heart.org/en/science-news/cardiovascular-health-in-turner-syndrome/Commentary

  TS occurs in 50 per 100,000 females born and caused by absence of all or part of the second sex chromosome. […] The presence of both congenital and acquired heart disease confer a significantly elevated risk of CVD compared to the general population. […] Importantly, the TS population is at high risk for aortic dissection (AoD), a frequent cause of mortality that may occur at a young (mean) age of 35 years as compared to 77 years in the general female population. […] Individuals with TS are at much greater risk for congenital heart disease, left sided cardiac defects, and bicuspid aortic valve (BAV). […] The occurrence of congenital heart abnormalities is so common in TS that this working group, in agreement with the 2017 international guidelines, formally recommends that any female with a left sided congenital cardiac defect or bicuspid aortic valve should be tested for TS.

• #62 What are Turner Syndrome symptoms? What is Turner Syndrome?

  https://pediatricendocrinologynj.com/turner-syndrome/

  The frequency of Turner syndrome is approximately 1 in 2000 live-born female infants. As many as 15% of spontaneous abortions have a 45,X karyotype. Interestingly, 99% of conceptions with 45,X karyotypes spontaneously abort. […] Although congenital cardiovascular malformations and aortic dilatation are common among patients with Turner syndrome, they are often undiagnosed until later in life, pointing to the need for a more systematic approach to cardiovascular monitoring. […] Limited epidemiologic studies suggest that life expectancy is reduced by about 10 years.

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

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

  Individuals with mitral valve disease or aortic valve disease require subacute bacterial endocarditis (SBE) prophylaxis. […] In a Danish study, the overall risk of autoimmune disease among women with Turner syndrome was twice that among Danish women in general. […] No racial or ethnic predilections are known. […] Turner syndrome only occurs in females. […] As a chromosomal disorder, Turner syndrome is present at conception or following the first cell division and remains throughout life. […] Overall prognosis for patients with Turner syndrome is good. […] Life expectancy is slightly shorter than average but may be improved by attention to associated chronic illnesses, such as obesity and hypertension. […] Almost all individuals are infertile, but pregnancy with donor embryos is possible.

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

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

  Individuals with mitral valve disease or aortic valve disease require subacute bacterial endocarditis (SBE) prophylaxis. […] In a Danish study, the overall risk of autoimmune disease among women with Turner syndrome was twice that among Danish women in general. […] No racial or ethnic predilections are known. […] Turner syndrome only occurs in females. […] As a chromosomal disorder, Turner syndrome is present at conception or following the first cell division and remains throughout life. […] Overall prognosis for patients with Turner syndrome is good. […] Life expectancy is slightly shorter than average but may be improved by attention to associated chronic illnesses, such as obesity and hypertension. […] Almost all individuals are infertile, but pregnancy with donor embryos is possible.

• #65 Turner Syndrome

  https://www.mdpi.com/2673-396X/3/2/22

  Turner syndrome (TS) affects approximately 1 out of every 1500–2500 live female births, with clinical features including short stature, premature ovarian failure, dysmorphic features and other endocrine, skeletal, cardiovascular, renal, gastrointestinal and neurodevelopmental organ system involvement. […] TS is established as a multisystemic condition, with several endocrine manifestations of TS affecting growth, puberty and fertility having significant impact on quality of life. Treatment guidelines are in place for the management of these conditions; however, further data on optimal management is needed. […] Turner syndrome (TS) is a complex multisystem genetic condition, first described in 1938 by an endocrinologist noting growth and congenital hypergonadotropic hypogonadism, with a reported prevalence of 1:2000 to 1:4000 among females.

• #66 Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10405780/

  The lack of United States population-based data on Turner syndrome limits assessments of prevalence and associated characteristics for this sex chromosome abnormality. […] We estimated the prevalence of karyotype-confirmed Turner syndrome diagnosed within the first year of life. […] The prevalence of Turner syndrome of any pregnancy outcome was 3.2 per 10,000 female live births (95% CI = 3.0-3.3, program range: 1.0-10.4), and 1.9 for live birth and stillbirth (20 weeks gestation) cases (95% CI = 1.8-2.1, program range: 0.2-3.9). […] The findings from this population-based study may inform surveillance practices, prenatal counseling, and diagnosis. […] We also identified racial and ethnic disparities in prevalence, an observation that warrants further investigation. […] The primary objective of our study was to provide more evidence-based data on Turner syndrome for research and clinical knowledge.

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

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

  A generalized vasculopathy is thought to affect individuals with TS, predisposing to aortic dilation and increased risk of aortic dissection. […] Patients should receive ongoing screening for these comorbidities as well as counseling about healthy lifestyle choices including regular cardiovascular exercise, healthy diet and avoidance of smoking. […] Neuropsychological testing is recommended at preschool age, entry to elementary school, transition to high school, or any time that academic difficulties come to attention. […] Given the complexities of care in these individuals, a multidisciplinary, consolidated approach is optimal.

• #68 Turner Syndrome Adult Care Center | UT Physicians

  https://www.utphysicians.com/turner-syndrome-care-center/

  The UT Physicians Turner Syndrome Adult Comprehensive Care Center (TSACCC) brings together a multidisciplinary team of specialists to give you coordinated and complete care. […] Regular tests of your heart and blood vessels by a cardiologist are recommended for all people with TS. […] Regular screening of thyroid hormone levels (TSH and T4 tests) are recommended for everyone with TS, as they can develop any time in life and cause serious health problems if untreated. […] Many young adult women with TS do not receive recommended age-appropriate screening for TS-related conditions. […] Please see the Turner Syndrome Healthcare Checklist for practical guidance on what you need to transition successfully to adult care. […] Regular physical examinations by an experienced physician are important. […] There is no protocol for surveillance of gonadoblastoma that has been proven to be effective in the early detection of gonadoblastoma.

• #69 Clinical review – Turner syndrome | GPonline

  https://www.gponline.com/clinical-review-turner-syndrome/genetics/article/1127528

  Once the diagnosis is confirmed, the patient’s family is offered genetic counselling, psychological support and a multidisciplinary approach to discussing management plans. […] Women with TS should be followed in dedicated multidisciplinary clinics that have experience of managing the adult complications of TS, with the focus being on preventive healthcare. […] The most serious risk for women with TS is aortic dissection. Risk factors for dissection, such as hypertension, bicuspid aortic valve and dilated aortic root, should be identified and managed.

• #70 Clinical review – Turner syndrome | GPonline

  https://www.gponline.com/clinical-review-turner-syndrome/genetics/article/1127528

  Once the diagnosis is confirmed, the patient’s family is offered genetic counselling, psychological support and a multidisciplinary approach to discussing management plans. […] Women with TS should be followed in dedicated multidisciplinary clinics that have experience of managing the adult complications of TS, with the focus being on preventive healthcare. […] The most serious risk for women with TS is aortic dissection. Risk factors for dissection, such as hypertension, bicuspid aortic valve and dilated aortic root, should be identified and managed.

• #71

  https://link.springer.com/article/10.1007/s40618-022-01853-z

  The primary aim was to estimate the incidence of hypertension, type 2 diabetes, autoimmune diseases, tumour, osteoporosis, and major CV events. […] Major CV events included only one case of acute aortic dissection, while no cases of ischaemic heart disease, stroke or heart failure were recorded. None of the patients died. […] This study confirms the need for continued, structured and multidisciplinary monitoring of TS also during adulthood. In addition, it demonstrates that a good transition programme needs to be guaranteed in TS with the participation of all relevant stakeholders to ensure a seamless transfer from paediatric to adult care and adequate treatment and monitoring during adulthood. This could facilitate the early diagnosis of important comorbidities, including cancer, appropriate and timely therapy, the prevention of several health complications, and also help extend the life of these patients. The risk of cancer in women with TS has been little studied, and although the consensus group does not recommend a specific cancer screening protocol, these data suggest the need for the increased surveillance of specific types of cancer in TS, including thyroid cancer.

• #72 (PDF) Epidemiology of Turner syndrome

  https://www.academia.edu/19699899/Epidemiology_of_Turner_syndrome

  Turner syndrome, characterized by gonadal dysgenesis and short stature, affects approximately 1 in 2000 females and has a prevalence of 50 per 100,000 women. Current epidemiological studies indicate a delay in diagnosis, with the median age being 15 years, and elevated risks of certain comorbid conditions, although cancer risk mirrors that of the general population. […] The epidemiology of Turner syndrome is largely unknown. A few studies of prevalence and incidence of the syndrome have been performed based on large chromosome surveys, and based on these studies it may be estimated that Turner syndrome occur in 50 per 100,000 liveborn females. A considerable delay in diagnosis of new cases of Turner syndrome exists in all studied populations, emphasizing clinical vigilance, and some are only diagnosed upon reaching adulthood.

• #73 SciELO Brazil – Epidemiological, endocrine and metabolic features in Turner syndrome Epidemiological, endocrine and metabolic features in Turner syndrome

  https://www.scielo.br/j/abem/a/cV7LHQLLqq7TwdW4fSWx3ws/

  Currently, however, the diagnosis of TS is made more infrequent than would be expected from the original cytogenetic surveys, and a considerable delay in diagnosing girls and adolescents with the syndrome is obvious. […] Morbidity is increased in Turner syndrome. […] Mortality is also increased in Turner syndrome. […] The current knowledge of genetics in Turner syndrome does not explain a significant proportion of the phenotypical characteristics of the syndrome.

• #74 Epidemiology of Turner Syndrome in Iceland 1968–2012 | ESPE2014 | 53rd Annual ESPE (ESPE 2014) | ESPE Abstracts

  https://abstracts.eurospe.org/hrp/0082/hrp0082p2-d3-611

  Epidemiology of Turner syndrome (TS) is a common genetic disorder with an estimated range of occurring in 25-210 per 100,000 liveborn females. […] The prevalence of TS in Iceland is higher than that reported from Denmark. […] Clinical vigilance is important for early diagnosis of Turner syndrome.

• #75 Care of girls and women with Turner syndrome: beyond growth and hormones in: Endocrine Connections Volume 6 Issue 4 (2017)

  https://ec.bioscientifica.com/view/journals/ec/6/4/R39.xml

  Turner syndrome (TS), although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2500 female births. […] Given the complexity of the condition, patients face manifold difficulties which increase over the lifespan. Furthermore, failures during the transitional phase to adult care result in moderate health outcomes and decreased quality of life. […] Patients with TS have to cope with many difficulties; they not only need life-long medical surveillance but also psychological care and treatment for a good outcome. […] Early diagnosis and treatment of comorbidities is known to enhance the medical state of adult patients with TS. […] Transition, when adolescents move within the healthcare system from a pediatric protective and authoritative environment to an adult one that demands healthcare autonomy and a degree of independence and responsibility, is a difficult stage.

• #76 Turner Syndrome Adult Care Center | UT Physicians

  https://www.utphysicians.com/turner-syndrome-care-center/

  The UT Physicians Turner Syndrome Adult Comprehensive Care Center (TSACCC) brings together a multidisciplinary team of specialists to give you coordinated and complete care. […] Regular tests of your heart and blood vessels by a cardiologist are recommended for all people with TS. […] Regular screening of thyroid hormone levels (TSH and T4 tests) are recommended for everyone with TS, as they can develop any time in life and cause serious health problems if untreated. […] Many young adult women with TS do not receive recommended age-appropriate screening for TS-related conditions. […] Please see the Turner Syndrome Healthcare Checklist for practical guidance on what you need to transition successfully to adult care. […] Regular physical examinations by an experienced physician are important. […] There is no protocol for surveillance of gonadoblastoma that has been proven to be effective in the early detection of gonadoblastoma.

• #77 Care of girls and women with Turner syndrome: beyond growth and hormones in: Endocrine Connections Volume 6 Issue 4 (2017)

  https://ec.bioscientifica.com/view/journals/ec/6/4/R39.xml

  Many young women with TS are lost in transition, suggesting that successful passage from pediatric to adult care requires a special focus in TS. […] Effective coordination and continuity of healthcare during a chronically ill adolescents transition to adult care is critical for the patients medical and emotional state in adulthood. […] Young women with TS are furthermore seldom fully aware of their conditions. […] In adult life, less than 4% of patients with TS undergo all the recommended medical investigations on a regular basis. […] There are many reasons for transition failures such as poor self-advocacy or self-management, little family support or unsatisfactory cooperation between healthcare professionals and organizational structures. […] Self-care and healthcare autonomy, both considered preconditions for a successful transition, involve complex cognitive and regulatory dimensions. […] Building up a relationship of trust with new healthcare professionals, and having a social network are essential for a successful transition.

• #78

  https://link.springer.com/article/10.1007/s40618-022-01853-z

  The primary aim was to estimate the incidence of hypertension, type 2 diabetes, autoimmune diseases, tumour, osteoporosis, and major CV events. […] Major CV events included only one case of acute aortic dissection, while no cases of ischaemic heart disease, stroke or heart failure were recorded. None of the patients died. […] This study confirms the need for continued, structured and multidisciplinary monitoring of TS also during adulthood. In addition, it demonstrates that a good transition programme needs to be guaranteed in TS with the participation of all relevant stakeholders to ensure a seamless transfer from paediatric to adult care and adequate treatment and monitoring during adulthood. This could facilitate the early diagnosis of important comorbidities, including cancer, appropriate and timely therapy, the prevention of several health complications, and also help extend the life of these patients. The risk of cancer in women with TS has been little studied, and although the consensus group does not recommend a specific cancer screening protocol, these data suggest the need for the increased surveillance of specific types of cancer in TS, including thyroid cancer.

• #79 Elucidating the Cancer Phenotype in Turner Syndrome: A 20-Year Observational Cohort Study | Anticancer Research

  https://ar.iiarjournals.org/content/43/11/5073

  Background/Aim: Turner syndrome confers increased cancer susceptibility; however, large-scale epidemiological evidence is lacking. This study aimed to analyze the incidence and prevalence of various malignancies in patients with Turner syndrome over 20 years of age to inform screening strategies. […] Key findings demonstrated markedly elevated risks of breast (1.7%), colon (1.0%), renal (0.4%), gonadoblastoma (0.4%), and other cancers. Significant demographic variations were observed in the incidence of cancers, such as gonadoblastoma, renal, and colon cancer. […] This large real-world study offers novel insights into the spectrum of cancer risk across adulthood in Turner syndrome. Our findings elucidate Turner syndrome’s complex cancer phenotype to inform clinical decision-making, prognostication, and tailored screening strategies to ultimately advance patient care.

• #80 Cardiovascular Health in Turner Syndrome – No Small Task – Professional Heart Daily | American Heart Association

  https://professional.heart.org/en/science-news/cardiovascular-health-in-turner-syndrome/Commentary

  Awareness of conditions associated with TS at diagnosis and across the paradigm of care will influence optimal clinical outcomes. […] Proper dissemination of information to clinicians, researchers, and the TS community may contribute to reduced morbidity and mortality. […] A medical alert identification system is not discussed in this statement but may reduce morbidity and mortality. […] The authors conclude with a thoughtful summary of cardiovascular research priorities in TS. […] Ultimately, collaborative efforts among global researchers, clinicians, advocacy groups and the TS community will enhance knowledge that will reduce morbidity and mortality, improve quality of life, and perhaps even identify therapeutic targets that could eliminate or neutralize the clinical manifestations of Turner Syndrome.

• #81 Cardiovascular Health in Turner Syndrome – No Small Task – Professional Heart Daily | American Heart Association

  https://professional.heart.org/en/science-news/cardiovascular-health-in-turner-syndrome/Commentary

  Awareness of conditions associated with TS at diagnosis and across the paradigm of care will influence optimal clinical outcomes. […] Proper dissemination of information to clinicians, researchers, and the TS community may contribute to reduced morbidity and mortality. […] A medical alert identification system is not discussed in this statement but may reduce morbidity and mortality. […] The authors conclude with a thoughtful summary of cardiovascular research priorities in TS. […] Ultimately, collaborative efforts among global researchers, clinicians, advocacy groups and the TS community will enhance knowledge that will reduce morbidity and mortality, improve quality of life, and perhaps even identify therapeutic targets that could eliminate or neutralize the clinical manifestations of Turner Syndrome.

• #82 Cardiovascular Health in Turner Syndrome – No Small Task – Professional Heart Daily | American Heart Association

  https://professional.heart.org/en/science-news/cardiovascular-health-in-turner-syndrome/Commentary

  Awareness of conditions associated with TS at diagnosis and across the paradigm of care will influence optimal clinical outcomes. […] Proper dissemination of information to clinicians, researchers, and the TS community may contribute to reduced morbidity and mortality. […] A medical alert identification system is not discussed in this statement but may reduce morbidity and mortality. […] The authors conclude with a thoughtful summary of cardiovascular research priorities in TS. […] Ultimately, collaborative efforts among global researchers, clinicians, advocacy groups and the TS community will enhance knowledge that will reduce morbidity and mortality, improve quality of life, and perhaps even identify therapeutic targets that could eliminate or neutralize the clinical manifestations of Turner Syndrome.

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