Materiały źródłowe

• #1 A Review of Recent Developments in Turner Syndrome Research

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8623498/

  Turner syndrome is a rare disorder resulting from complete or partial loss of the second sex chromosome. Common manifestations include delayed growth, premature ovarian failure, congenital heart defects, endocrine disorders, lymphedema, and webbed neck. People with Turner syndrome have significantly increased mortality risk primarily due to cardiovascular abnormalities. […] Cardiovascular abnormalities are of significant concern both in utero and postnatally. Heart defects incompatible with life contribute to an estimated 99% fetal loss, while bicuspid aortic valve and coarctation of the aorta are more common complications of live births. Later in life, aortic aneurysm and dissection at relatively young ages contribute to increased mortality. In young adults, there is a significantly higher incidence of hypertension and type 2 diabetes mellitus than seen in the general population. These diseases alone contribute to a threefold increase in early mortality compared to the euploid population.

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

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

  Overall prognosis for patients with Turner syndrome is good. […] Even with growth hormone therapy, most individuals are shorter than average. […] Turner syndrome is not a cause of intellectual disability. […] They are more likely to be employed than other adult women. […] 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.

• #3 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) is a rare genetic disorder in which all or part of one X chromosome is absent: karyotype 45,X, mosaicism 45,X/46,XX, with possible variations of the mosaicism, presence of the Y chromosome, structural abnormalities of the X chromosome, such as X isochromosome (45,X/46,isoXq or 45,X/46,isoXp), ring X chromosome or deletion of the X chromosome. TS is almost always associated with short stature and ovarian insufficiency. Several other features have been described in some, but not all patients: morphological characteristics of various intensities, congenital malformations, and a high risk of acquired comorbid conditions (Appendix 1). Cognitive performance is generally satisfactory, although some patients have difficulty with certain kinds of learning, and some very specific abnormalities of the X chromosome (ring) may be accompanied by intellectual disability.

• #4 Long-Term Outcomes in Patients With Turner Syndrome: A 68-Year Follow-Up – PubMed

  https://pubmed.ncbi.nlm.nih.gov/31131660/

  Patients with TS have reduced survival compared with age-matched controls, and cardiovascular disease is the major cause of death. […] Further studies are required to determine if targeted cardiovascular risk factor modification will result in improved survival in this population.

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

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

  Overall prognosis for patients with Turner syndrome is good. […] Even with growth hormone therapy, most individuals are shorter than average. […] Turner syndrome is not a cause of intellectual disability. […] They are more likely to be employed than other adult women. […] 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.

• #6 Long-Term Outcomes in Patients With Turner Syndrome: A 68-Year Follow-Up – PubMed

  https://pubmed.ncbi.nlm.nih.gov/31131660/

  Patients with TS have reduced survival compared with age-matched controls, and cardiovascular disease is the major cause of death. […] Further studies are required to determine if targeted cardiovascular risk factor modification will result in improved survival in this population.

• #7 A Review of Recent Developments in Turner Syndrome Research

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8623498/

  Turner syndrome is a rare disorder resulting from complete or partial loss of the second sex chromosome. Common manifestations include delayed growth, premature ovarian failure, congenital heart defects, endocrine disorders, lymphedema, and webbed neck. People with Turner syndrome have significantly increased mortality risk primarily due to cardiovascular abnormalities. […] Cardiovascular abnormalities are of significant concern both in utero and postnatally. Heart defects incompatible with life contribute to an estimated 99% fetal loss, while bicuspid aortic valve and coarctation of the aorta are more common complications of live births. Later in life, aortic aneurysm and dissection at relatively young ages contribute to increased mortality. In young adults, there is a significantly higher incidence of hypertension and type 2 diabetes mellitus than seen in the general population. These diseases alone contribute to a threefold increase in early mortality compared to the euploid population.

• #8 A Review of Recent Developments in Turner Syndrome Research

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8623498/

  Turner syndrome is a rare disorder resulting from complete or partial loss of the second sex chromosome. Common manifestations include delayed growth, premature ovarian failure, congenital heart defects, endocrine disorders, lymphedema, and webbed neck. People with Turner syndrome have significantly increased mortality risk primarily due to cardiovascular abnormalities. […] Cardiovascular abnormalities are of significant concern both in utero and postnatally. Heart defects incompatible with life contribute to an estimated 99% fetal loss, while bicuspid aortic valve and coarctation of the aorta are more common complications of live births. Later in life, aortic aneurysm and dissection at relatively young ages contribute to increased mortality. In young adults, there is a significantly higher incidence of hypertension and type 2 diabetes mellitus than seen in the general population. These diseases alone contribute to a threefold increase in early mortality compared to the euploid population.

• #9 A Review of Recent Developments in Turner Syndrome Research

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8623498/

  Turner syndrome is a rare disorder resulting from complete or partial loss of the second sex chromosome. Common manifestations include delayed growth, premature ovarian failure, congenital heart defects, endocrine disorders, lymphedema, and webbed neck. People with Turner syndrome have significantly increased mortality risk primarily due to cardiovascular abnormalities. […] Cardiovascular abnormalities are of significant concern both in utero and postnatally. Heart defects incompatible with life contribute to an estimated 99% fetal loss, while bicuspid aortic valve and coarctation of the aorta are more common complications of live births. Later in life, aortic aneurysm and dissection at relatively young ages contribute to increased mortality. In young adults, there is a significantly higher incidence of hypertension and type 2 diabetes mellitus than seen in the general population. These diseases alone contribute to a threefold increase in early mortality compared to the euploid population.

• #10 A Review of Recent Developments in Turner Syndrome Research

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8623498/

  In addition to structural abnormalities, there is also increased risk for adult-onset cardiovascular metabolic disease in Turner syndrome. Blood pressure is elevated in both pediatric and adult populations, with up to 40% of children and 60% of adults being affected. […] With so many risk factors, the mortality of Turner syndrome patients is three times as high as euploid individuals. This increased mortality is well explained by the increased rates of previously mentioned pathologies.

• #11 A Review of Recent Developments in Turner Syndrome Research

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8623498/

  The primary treatment for patients with Turner syndrome is growth hormone therapy to maintain body stature. While GH has been shown to be effective at increasing the height of patients with Turner syndrome, variables such as dosing and late initiation of treatment can reduce efficacy. Additionally, estrogen replacement therapy is important due to the increased risk for premature ovarian failure. […] All patients with Turner syndrome should have a screening trans-thoracic echocardiogram at the time of diagnosis with a follow up cardiovascular MRI if the echocardiogram does not produce adequate images. […] Congenital heart defects, which occur in about 25-50% of cases, are the most common cause of death in patients with Turner syndrome. […] Dissection occurs at a 100-times greater rate and at younger ages in the Turner syndrome population than the general population. In the Turner syndrome population, the median age of dissection was found to be 30-35, as opposed to 70 in the general population. The increased risk of aortic pathology is partially attributed to congenital defects, but there are also additional factors specific to Turner syndrome that lead to elevated risk as there is evidence that aortopathy occurs in Turner syndrome in the absence of BAV.

• #12 A Review of Recent Developments in Turner Syndrome Research

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8623498/

  The primary treatment for patients with Turner syndrome is growth hormone therapy to maintain body stature. While GH has been shown to be effective at increasing the height of patients with Turner syndrome, variables such as dosing and late initiation of treatment can reduce efficacy. Additionally, estrogen replacement therapy is important due to the increased risk for premature ovarian failure. […] All patients with Turner syndrome should have a screening trans-thoracic echocardiogram at the time of diagnosis with a follow up cardiovascular MRI if the echocardiogram does not produce adequate images. […] Congenital heart defects, which occur in about 25-50% of cases, are the most common cause of death in patients with Turner syndrome. […] Dissection occurs at a 100-times greater rate and at younger ages in the Turner syndrome population than the general population. In the Turner syndrome population, the median age of dissection was found to be 30-35, as opposed to 70 in the general population. The increased risk of aortic pathology is partially attributed to congenital defects, but there are also additional factors specific to Turner syndrome that lead to elevated risk as there is evidence that aortopathy occurs in Turner syndrome in the absence of BAV.

• #13 A Review of Recent Developments in Turner Syndrome Research

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8623498/

  The primary treatment for patients with Turner syndrome is growth hormone therapy to maintain body stature. While GH has been shown to be effective at increasing the height of patients with Turner syndrome, variables such as dosing and late initiation of treatment can reduce efficacy. Additionally, estrogen replacement therapy is important due to the increased risk for premature ovarian failure. […] All patients with Turner syndrome should have a screening trans-thoracic echocardiogram at the time of diagnosis with a follow up cardiovascular MRI if the echocardiogram does not produce adequate images. […] Congenital heart defects, which occur in about 25-50% of cases, are the most common cause of death in patients with Turner syndrome. […] Dissection occurs at a 100-times greater rate and at younger ages in the Turner syndrome population than the general population. In the Turner syndrome population, the median age of dissection was found to be 30-35, as opposed to 70 in the general population. The increased risk of aortic pathology is partially attributed to congenital defects, but there are also additional factors specific to Turner syndrome that lead to elevated risk as there is evidence that aortopathy occurs in Turner syndrome in the absence of BAV.

• #14 A Review of Recent Developments in Turner Syndrome Research

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8623498/

  In addition to structural abnormalities, there is also increased risk for adult-onset cardiovascular metabolic disease in Turner syndrome. Blood pressure is elevated in both pediatric and adult populations, with up to 40% of children and 60% of adults being affected. […] With so many risk factors, the mortality of Turner syndrome patients is three times as high as euploid individuals. This increased mortality is well explained by the increased rates of previously mentioned pathologies.

• #15 A Review of Recent Developments in Turner Syndrome Research

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8623498/

  The primary treatment for patients with Turner syndrome is growth hormone therapy to maintain body stature. While GH has been shown to be effective at increasing the height of patients with Turner syndrome, variables such as dosing and late initiation of treatment can reduce efficacy. Additionally, estrogen replacement therapy is important due to the increased risk for premature ovarian failure. […] All patients with Turner syndrome should have a screening trans-thoracic echocardiogram at the time of diagnosis with a follow up cardiovascular MRI if the echocardiogram does not produce adequate images. […] Congenital heart defects, which occur in about 25-50% of cases, are the most common cause of death in patients with Turner syndrome. […] Dissection occurs at a 100-times greater rate and at younger ages in the Turner syndrome population than the general population. In the Turner syndrome population, the median age of dissection was found to be 30-35, as opposed to 70 in the general population. The increased risk of aortic pathology is partially attributed to congenital defects, but there are also additional factors specific to Turner syndrome that lead to elevated risk as there is evidence that aortopathy occurs in Turner syndrome in the absence of BAV.

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

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

  Cardiovascular disease contributes to increased mortality in TS, and screening is necessary at diagnosis and regular intervals by a cardiologist with experience in TS. […] Neurocognitive deficits are common, and neuropsychological testing is recommended as well as interventions tailored to specific areas of weakness. […] Given the complexities of care in these individuals, a multidisciplinary, consolidated approach is optimal.

• #17 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) is a rare genetic disorder in which all or part of one X chromosome is absent: karyotype 45,X, mosaicism 45,X/46,XX, with possible variations of the mosaicism, presence of the Y chromosome, structural abnormalities of the X chromosome, such as X isochromosome (45,X/46,isoXq or 45,X/46,isoXp), ring X chromosome or deletion of the X chromosome. TS is almost always associated with short stature and ovarian insufficiency. Several other features have been described in some, but not all patients: morphological characteristics of various intensities, congenital malformations, and a high risk of acquired comorbid conditions (Appendix 1). Cognitive performance is generally satisfactory, although some patients have difficulty with certain kinds of learning, and some very specific abnormalities of the X chromosome (ring) may be accompanied by intellectual disability.

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

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

  Overall prognosis for patients with Turner syndrome is good. […] Even with growth hormone therapy, most individuals are shorter than average. […] Turner syndrome is not a cause of intellectual disability. […] They are more likely to be employed than other adult women. […] 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.

• #19 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

  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 various elements of this PNDS are designed to provide such support. […] Treatment with rhGH during the pediatric period is recommended to increase the predicted height and final adult height of these patients. Puberty induction is often required, and is achieved with low doses of estrogens followed by hormone replacement therapy combining estrogen and progesterone/progestogen for premature ovarian insufficiency. […] About 7% of patients, on average, manage to fall pregnant naturally, particularly those with mosaic 45,X/46,XX karyotypes. Medically assisted reproduction by in vitro fertilization of a donated egg may be successful, provided that the patients cardiovascular and hepatic assessments are compatible with pregnancy. In cases of spontaneous puberty with persistent natural cycles, fertility preservation should be discussed.

• #20 A Review of Recent Developments in Turner Syndrome Research

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8623498/

  The primary treatment for patients with Turner syndrome is growth hormone therapy to maintain body stature. While GH has been shown to be effective at increasing the height of patients with Turner syndrome, variables such as dosing and late initiation of treatment can reduce efficacy. Additionally, estrogen replacement therapy is important due to the increased risk for premature ovarian failure. […] All patients with Turner syndrome should have a screening trans-thoracic echocardiogram at the time of diagnosis with a follow up cardiovascular MRI if the echocardiogram does not produce adequate images. […] Congenital heart defects, which occur in about 25-50% of cases, are the most common cause of death in patients with Turner syndrome. […] Dissection occurs at a 100-times greater rate and at younger ages in the Turner syndrome population than the general population. In the Turner syndrome population, the median age of dissection was found to be 30-35, as opposed to 70 in the general population. The increased risk of aortic pathology is partially attributed to congenital defects, but there are also additional factors specific to Turner syndrome that lead to elevated risk as there is evidence that aortopathy occurs in Turner syndrome in the absence of BAV.

• #21 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

  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 various elements of this PNDS are designed to provide such support. […] Treatment with rhGH during the pediatric period is recommended to increase the predicted height and final adult height of these patients. Puberty induction is often required, and is achieved with low doses of estrogens followed by hormone replacement therapy combining estrogen and progesterone/progestogen for premature ovarian insufficiency. […] About 7% of patients, on average, manage to fall pregnant naturally, particularly those with mosaic 45,X/46,XX karyotypes. Medically assisted reproduction by in vitro fertilization of a donated egg may be successful, provided that the patients cardiovascular and hepatic assessments are compatible with pregnancy. In cases of spontaneous puberty with persistent natural cycles, fertility preservation should be discussed.

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

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

  Improvements have been made in our understanding of some aspects of TS, while others have yet to be elucidated and require further research. […] 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. […] The likelihood of spontaneous pubertal development and menarche is higher in those with mosaic karyotypes, although almost all patients eventually develop ovarian failure. […] Hormone replacement therapy is necessary in most girls and women with TS for induction of pubertal development, and subsequently for maintenance of estrogen dependent processes during adulthood. […] The optimal hormone replacement regimen to achieve these goals is still being investigated, although literature supports the theoretical benefits and effectiveness of transdermal estrogen delivery.

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

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

  Improvements have been made in our understanding of some aspects of TS, while others have yet to be elucidated and require further research. […] 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. […] The likelihood of spontaneous pubertal development and menarche is higher in those with mosaic karyotypes, although almost all patients eventually develop ovarian failure. […] Hormone replacement therapy is necessary in most girls and women with TS for induction of pubertal development, and subsequently for maintenance of estrogen dependent processes during adulthood. […] The optimal hormone replacement regimen to achieve these goals is still being investigated, although literature supports the theoretical benefits and effectiveness of transdermal estrogen delivery.

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

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

  Improvements have been made in our understanding of some aspects of TS, while others have yet to be elucidated and require further research. […] 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. […] The likelihood of spontaneous pubertal development and menarche is higher in those with mosaic karyotypes, although almost all patients eventually develop ovarian failure. […] Hormone replacement therapy is necessary in most girls and women with TS for induction of pubertal development, and subsequently for maintenance of estrogen dependent processes during adulthood. […] The optimal hormone replacement regimen to achieve these goals is still being investigated, although literature supports the theoretical benefits and effectiveness of transdermal estrogen delivery.

• #25 Reproductive and obstetric outcomes in mosaic Turner’s Syndrome: a cross-sectional study and review of the literature | Reproductive Biology and Endocrinology | Full Text

  https://rbej.biomedcentral.com/articles/10.1186/s12958-015-0055-7

  Turners syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. Chances of spontaneous pregnancy in TS are rare and the outcome of the pregnancies is known to be poor with an increased risk of miscarriage and stillbirths. […] Only a small proportion of the mosaic TS patients conceive in the first 2 years of the marriage. Age of menarche and age of marriage appear not to have any impact on the chance of conceiving. Mosaic TS cases should counseled about the low odds of pregnancy and high miscarriage rates. […] In TS patients who conceived, only 5.7 % take home baby whereas 67.3 % abort. Age of menarche and age of marriage appear not to have any impact on the chance of conceiving. Mosaicism ratio does not affect the time to the first pregnancy. Patients should be informed about high abortion rates after pregnancy.

• #26 Reproductive and obstetric outcomes in mosaic Turner’s Syndrome: a cross-sectional study and review of the literature | Reproductive Biology and Endocrinology | Full Text

  https://rbej.biomedcentral.com/articles/10.1186/s12958-015-0055-7

  Turners syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. Chances of spontaneous pregnancy in TS are rare and the outcome of the pregnancies is known to be poor with an increased risk of miscarriage and stillbirths. […] Only a small proportion of the mosaic TS patients conceive in the first 2 years of the marriage. Age of menarche and age of marriage appear not to have any impact on the chance of conceiving. Mosaic TS cases should counseled about the low odds of pregnancy and high miscarriage rates. […] In TS patients who conceived, only 5.7 % take home baby whereas 67.3 % abort. Age of menarche and age of marriage appear not to have any impact on the chance of conceiving. Mosaicism ratio does not affect the time to the first pregnancy. Patients should be informed about high abortion rates after pregnancy.

• #27 Reproductive and obstetric outcomes in mosaic Turner’s Syndrome: a cross-sectional study and review of the literature | Reproductive Biology and Endocrinology | Full Text

  https://rbej.biomedcentral.com/articles/10.1186/s12958-015-0055-7

  Turners syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. Chances of spontaneous pregnancy in TS are rare and the outcome of the pregnancies is known to be poor with an increased risk of miscarriage and stillbirths. […] Only a small proportion of the mosaic TS patients conceive in the first 2 years of the marriage. Age of menarche and age of marriage appear not to have any impact on the chance of conceiving. Mosaic TS cases should counseled about the low odds of pregnancy and high miscarriage rates. […] In TS patients who conceived, only 5.7 % take home baby whereas 67.3 % abort. Age of menarche and age of marriage appear not to have any impact on the chance of conceiving. Mosaicism ratio does not affect the time to the first pregnancy. Patients should be informed about high abortion rates after pregnancy.

• #28 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

  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 various elements of this PNDS are designed to provide such support. […] Treatment with rhGH during the pediatric period is recommended to increase the predicted height and final adult height of these patients. Puberty induction is often required, and is achieved with low doses of estrogens followed by hormone replacement therapy combining estrogen and progesterone/progestogen for premature ovarian insufficiency. […] About 7% of patients, on average, manage to fall pregnant naturally, particularly those with mosaic 45,X/46,XX karyotypes. Medically assisted reproduction by in vitro fertilization of a donated egg may be successful, provided that the patients cardiovascular and hepatic assessments are compatible with pregnancy. In cases of spontaneous puberty with persistent natural cycles, fertility preservation should be discussed.

• #29 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

  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 various elements of this PNDS are designed to provide such support. […] Treatment with rhGH during the pediatric period is recommended to increase the predicted height and final adult height of these patients. Puberty induction is often required, and is achieved with low doses of estrogens followed by hormone replacement therapy combining estrogen and progesterone/progestogen for premature ovarian insufficiency. […] About 7% of patients, on average, manage to fall pregnant naturally, particularly those with mosaic 45,X/46,XX karyotypes. Medically assisted reproduction by in vitro fertilization of a donated egg may be successful, provided that the patients cardiovascular and hepatic assessments are compatible with pregnancy. In cases of spontaneous puberty with persistent natural cycles, fertility preservation should be discussed.

• #30 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

  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 various elements of this PNDS are designed to provide such support. […] Treatment with rhGH during the pediatric period is recommended to increase the predicted height and final adult height of these patients. Puberty induction is often required, and is achieved with low doses of estrogens followed by hormone replacement therapy combining estrogen and progesterone/progestogen for premature ovarian insufficiency. […] About 7% of patients, on average, manage to fall pregnant naturally, particularly those with mosaic 45,X/46,XX karyotypes. Medically assisted reproduction by in vitro fertilization of a donated egg may be successful, provided that the patients cardiovascular and hepatic assessments are compatible with pregnancy. In cases of spontaneous puberty with persistent natural cycles, fertility preservation should be discussed.

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

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

  Overall prognosis for patients with Turner syndrome is good. […] Even with growth hormone therapy, most individuals are shorter than average. […] Turner syndrome is not a cause of intellectual disability. […] They are more likely to be employed than other adult women. […] 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.

• #32 Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution | Scientific Reports

  https://www.nature.com/articles/s41598-025-89843-y

  We also observed evidence of RCX instability as fragments, markers, or secondary rings in four subjects, potentially representing dynamic mosaicism. […] Those with proximal losses may experience normal menstruation and fertility, while the more terminal losses are expected to be associated with POI. […] Both RCX-12 and RCX-15 may benefit from these early fertility interventions and monitoring to aid their childbearing in the future.

• #33 Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution | Scientific Reports

  https://www.nature.com/articles/s41598-025-89843-y

  We also observed evidence of RCX instability as fragments, markers, or secondary rings in four subjects, potentially representing dynamic mosaicism. […] Those with proximal losses may experience normal menstruation and fertility, while the more terminal losses are expected to be associated with POI. […] Both RCX-12 and RCX-15 may benefit from these early fertility interventions and monitoring to aid their childbearing in the future.

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

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

  Overall prognosis for patients with Turner syndrome is good. […] Even with growth hormone therapy, most individuals are shorter than average. […] Turner syndrome is not a cause of intellectual disability. […] They are more likely to be employed than other adult women. […] 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.

• #35 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) is a rare genetic disorder in which all or part of one X chromosome is absent: karyotype 45,X, mosaicism 45,X/46,XX, with possible variations of the mosaicism, presence of the Y chromosome, structural abnormalities of the X chromosome, such as X isochromosome (45,X/46,isoXq or 45,X/46,isoXp), ring X chromosome or deletion of the X chromosome. TS is almost always associated with short stature and ovarian insufficiency. Several other features have been described in some, but not all patients: morphological characteristics of various intensities, congenital malformations, and a high risk of acquired comorbid conditions (Appendix 1). Cognitive performance is generally satisfactory, although some patients have difficulty with certain kinds of learning, and some very specific abnormalities of the X chromosome (ring) may be accompanied by intellectual disability.

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

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

  Cardiovascular disease contributes to increased mortality in TS, and screening is necessary at diagnosis and regular intervals by a cardiologist with experience in TS. […] Neurocognitive deficits are common, and neuropsychological testing is recommended as well as interventions tailored to specific areas of weakness. […] Given the complexities of care in these individuals, a multidisciplinary, consolidated approach is optimal.

• #37 Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution | Scientific Reports

  https://www.nature.com/articles/s41598-025-89843-y

  Individuals with Turner syndrome (TS) phenotypes may exhibit short stature, ovarian dysfunction, and neurocognitive disorders. […] The cohort shows comorbidities and sexual characteristics associated with mosaic RCX. […] Current TS clinical guidelines address typical and variant karyotypes, which include RCX. […] Unlike TS arising from pure monosomy X, RCX can be associated with variable intellectual impairment. […] While there is not always a correlation between the presence of XIST in the ring and the cognitive phenotype, the active ring size appears strongly correlated with the phenotypic outcome. […] Associated TS features in individuals mosaic for RCX can range from a mild presentation to a more severe phenotype: short stature, primary and secondary amenorrhea, gonadal dysgenesis, development of secondary sexual characteristics, infertility, and intellectual disability.

• #38 Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution | Scientific Reports

  https://www.nature.com/articles/s41598-025-89843-y

  Individuals with Turner syndrome (TS) phenotypes may exhibit short stature, ovarian dysfunction, and neurocognitive disorders. […] The cohort shows comorbidities and sexual characteristics associated with mosaic RCX. […] Current TS clinical guidelines address typical and variant karyotypes, which include RCX. […] Unlike TS arising from pure monosomy X, RCX can be associated with variable intellectual impairment. […] While there is not always a correlation between the presence of XIST in the ring and the cognitive phenotype, the active ring size appears strongly correlated with the phenotypic outcome. […] Associated TS features in individuals mosaic for RCX can range from a mild presentation to a more severe phenotype: short stature, primary and secondary amenorrhea, gonadal dysgenesis, development of secondary sexual characteristics, infertility, and intellectual disability.

• #39 Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution | Scientific Reports

  https://www.nature.com/articles/s41598-025-89843-y

  Individuals with Turner syndrome (TS) phenotypes may exhibit short stature, ovarian dysfunction, and neurocognitive disorders. […] The cohort shows comorbidities and sexual characteristics associated with mosaic RCX. […] Current TS clinical guidelines address typical and variant karyotypes, which include RCX. […] Unlike TS arising from pure monosomy X, RCX can be associated with variable intellectual impairment. […] While there is not always a correlation between the presence of XIST in the ring and the cognitive phenotype, the active ring size appears strongly correlated with the phenotypic outcome. […] Associated TS features in individuals mosaic for RCX can range from a mild presentation to a more severe phenotype: short stature, primary and secondary amenorrhea, gonadal dysgenesis, development of secondary sexual characteristics, infertility, and intellectual disability.

• #40 Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution | Scientific Reports

  https://www.nature.com/articles/s41598-025-89843-y

  Given that both losses of the RCX and the RCX itself can confer differences in genomic imbalances for the X chromosome, these variables can influence the differences observed in the TS phenotypic spectrum. […] Importantly, one neonate (RCX-2) was found to bear thirteen female cells with a normal chromosomal complement upon a second cytogenetic follow-up fifteen years later in the background of monosomy X and an absence of the RCX. […] The only subject whose (secondary) RCX lacked XIST was thought to explain her severe presentation (isochromosome X). […] Mosaicism is a factor that influences severity. […] We observed three main groupings: (1) predominantly monosomy X over RCX, (2) equal numbers of cells with monosomy X or RCX, and (3) predominantly RCX over monosomy X. […] The impact of mosaicism on the severity of the clinical phenotype is challenging to determine, as the levels of mosaicism can change in response to aging due to RCX instability.

• #41 Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution | Scientific Reports

  https://www.nature.com/articles/s41598-025-89843-y

  Given that both losses of the RCX and the RCX itself can confer differences in genomic imbalances for the X chromosome, these variables can influence the differences observed in the TS phenotypic spectrum. […] Importantly, one neonate (RCX-2) was found to bear thirteen female cells with a normal chromosomal complement upon a second cytogenetic follow-up fifteen years later in the background of monosomy X and an absence of the RCX. […] The only subject whose (secondary) RCX lacked XIST was thought to explain her severe presentation (isochromosome X). […] Mosaicism is a factor that influences severity. […] We observed three main groupings: (1) predominantly monosomy X over RCX, (2) equal numbers of cells with monosomy X or RCX, and (3) predominantly RCX over monosomy X. […] The impact of mosaicism on the severity of the clinical phenotype is challenging to determine, as the levels of mosaicism can change in response to aging due to RCX instability.

• #42 Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution | Scientific Reports

  https://www.nature.com/articles/s41598-025-89843-y

  Given that both losses of the RCX and the RCX itself can confer differences in genomic imbalances for the X chromosome, these variables can influence the differences observed in the TS phenotypic spectrum. […] Importantly, one neonate (RCX-2) was found to bear thirteen female cells with a normal chromosomal complement upon a second cytogenetic follow-up fifteen years later in the background of monosomy X and an absence of the RCX. […] The only subject whose (secondary) RCX lacked XIST was thought to explain her severe presentation (isochromosome X). […] Mosaicism is a factor that influences severity. […] We observed three main groupings: (1) predominantly monosomy X over RCX, (2) equal numbers of cells with monosomy X or RCX, and (3) predominantly RCX over monosomy X. […] The impact of mosaicism on the severity of the clinical phenotype is challenging to determine, as the levels of mosaicism can change in response to aging due to RCX instability.

• #43 Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution | Scientific Reports

  https://www.nature.com/articles/s41598-025-89843-y

  We also observed evidence of RCX instability as fragments, markers, or secondary rings in four subjects, potentially representing dynamic mosaicism. […] Those with proximal losses may experience normal menstruation and fertility, while the more terminal losses are expected to be associated with POI. […] Both RCX-12 and RCX-15 may benefit from these early fertility interventions and monitoring to aid their childbearing in the future.

• #44 Reduced effects of social feedback on learning in Turner syndrome | Scientific Reports

  https://www.nature.com/articles/s41598-023-42628-7

  Turner syndrome is associated with reduced social skills, an increased risk of having few friendship relations and difficulties with emotion recognition in faces. […] The current study was the first to examine the effects of social feedback on reinforcement learning in Turner syndrome. As hypothesized, an attenuated effect of social feedback was seen in the group with Turner syndrome compared to the control group. […] Taken together, these results indicate a reduced influence of social feedback on reinforcement learning in Turner syndrome. Since reinforcement learning principles operate in many aspects of everyday learning and naturalistic behavior, these alterations may be linked to altered social behavior. […] Interestingly, alterations in reinforcement learning have previously been described in ASD, suggesting a potential overlap with Turner syndrome. Speculatively, reinforcement learning alterations may therefore be a shared mechanism underlying social challenges in Turner syndrome and ASD.

• #45 Reduced effects of social feedback on learning in Turner syndrome | Scientific Reports

  https://www.nature.com/articles/s41598-023-42628-7

  Turner syndrome is associated with reduced social skills, an increased risk of having few friendship relations and difficulties with emotion recognition in faces. […] The current study was the first to examine the effects of social feedback on reinforcement learning in Turner syndrome. As hypothesized, an attenuated effect of social feedback was seen in the group with Turner syndrome compared to the control group. […] Taken together, these results indicate a reduced influence of social feedback on reinforcement learning in Turner syndrome. Since reinforcement learning principles operate in many aspects of everyday learning and naturalistic behavior, these alterations may be linked to altered social behavior. […] Interestingly, alterations in reinforcement learning have previously been described in ASD, suggesting a potential overlap with Turner syndrome. Speculatively, reinforcement learning alterations may therefore be a shared mechanism underlying social challenges in Turner syndrome and ASD.

• #46 Reduced effects of social feedback on learning in Turner syndrome | Scientific Reports

  https://www.nature.com/articles/s41598-023-42628-7

  Turner syndrome is associated with reduced social skills, an increased risk of having few friendship relations and difficulties with emotion recognition in faces. […] The current study was the first to examine the effects of social feedback on reinforcement learning in Turner syndrome. As hypothesized, an attenuated effect of social feedback was seen in the group with Turner syndrome compared to the control group. […] Taken together, these results indicate a reduced influence of social feedback on reinforcement learning in Turner syndrome. Since reinforcement learning principles operate in many aspects of everyday learning and naturalistic behavior, these alterations may be linked to altered social behavior. […] Interestingly, alterations in reinforcement learning have previously been described in ASD, suggesting a potential overlap with Turner syndrome. Speculatively, reinforcement learning alterations may therefore be a shared mechanism underlying social challenges in Turner syndrome and ASD.

• #47 Reduced effects of social feedback on learning in Turner syndrome | Scientific Reports

  https://www.nature.com/articles/s41598-023-42628-7

  Turner syndrome is associated with reduced social skills, an increased risk of having few friendship relations and difficulties with emotion recognition in faces. […] The current study was the first to examine the effects of social feedback on reinforcement learning in Turner syndrome. As hypothesized, an attenuated effect of social feedback was seen in the group with Turner syndrome compared to the control group. […] Taken together, these results indicate a reduced influence of social feedback on reinforcement learning in Turner syndrome. Since reinforcement learning principles operate in many aspects of everyday learning and naturalistic behavior, these alterations may be linked to altered social behavior. […] Interestingly, alterations in reinforcement learning have previously been described in ASD, suggesting a potential overlap with Turner syndrome. Speculatively, reinforcement learning alterations may therefore be a shared mechanism underlying social challenges in Turner syndrome and ASD.

• #48 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

  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 various elements of this PNDS are designed to provide such support. […] Treatment with rhGH during the pediatric period is recommended to increase the predicted height and final adult height of these patients. Puberty induction is often required, and is achieved with low doses of estrogens followed by hormone replacement therapy combining estrogen and progesterone/progestogen for premature ovarian insufficiency. […] About 7% of patients, on average, manage to fall pregnant naturally, particularly those with mosaic 45,X/46,XX karyotypes. Medically assisted reproduction by in vitro fertilization of a donated egg may be successful, provided that the patients cardiovascular and hepatic assessments are compatible with pregnancy. In cases of spontaneous puberty with persistent natural cycles, fertility preservation should be discussed.

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

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

  Improvements have been made in our understanding of some aspects of TS, while others have yet to be elucidated and require further research. […] 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. […] The likelihood of spontaneous pubertal development and menarche is higher in those with mosaic karyotypes, although almost all patients eventually develop ovarian failure. […] Hormone replacement therapy is necessary in most girls and women with TS for induction of pubertal development, and subsequently for maintenance of estrogen dependent processes during adulthood. […] The optimal hormone replacement regimen to achieve these goals is still being investigated, although literature supports the theoretical benefits and effectiveness of transdermal estrogen delivery.

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

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

  Cardiovascular disease contributes to increased mortality in TS, and screening is necessary at diagnosis and regular intervals by a cardiologist with experience in TS. […] Neurocognitive deficits are common, and neuropsychological testing is recommended as well as interventions tailored to specific areas of weakness. […] Given the complexities of care in these individuals, a multidisciplinary, consolidated approach is optimal.

• #51 Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution | Scientific Reports

  https://www.nature.com/articles/s41598-025-89843-y

  Individuals with Turner syndrome (TS) phenotypes may exhibit short stature, ovarian dysfunction, and neurocognitive disorders. […] The cohort shows comorbidities and sexual characteristics associated with mosaic RCX. […] Current TS clinical guidelines address typical and variant karyotypes, which include RCX. […] Unlike TS arising from pure monosomy X, RCX can be associated with variable intellectual impairment. […] While there is not always a correlation between the presence of XIST in the ring and the cognitive phenotype, the active ring size appears strongly correlated with the phenotypic outcome. […] Associated TS features in individuals mosaic for RCX can range from a mild presentation to a more severe phenotype: short stature, primary and secondary amenorrhea, gonadal dysgenesis, development of secondary sexual characteristics, infertility, and intellectual disability.

• #52 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

  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. […] The diagnosis should be announced as part of the overall management process. […] The definitive diagnosis is established by FISH analysis on the sex chromosomes or karyotyping (on blood lymphocytes, amniotic fluid, buccal cells, etc.). […] The treatment of male subjects with 45,X/46,XY karyotypes will not be discussed separately in this document. In such patients, management and strategies for detecting comorbid conditions are similar to those for patients with Turner Syndrome.

• #53 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

  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. […] The diagnosis should be announced as part of the overall management process. […] The definitive diagnosis is established by FISH analysis on the sex chromosomes or karyotyping (on blood lymphocytes, amniotic fluid, buccal cells, etc.). […] The treatment of male subjects with 45,X/46,XY karyotypes will not be discussed separately in this document. In such patients, management and strategies for detecting comorbid conditions are similar to those for patients with Turner Syndrome.

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

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

  Improvements have been made in our understanding of some aspects of TS, while others have yet to be elucidated and require further research. […] 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. […] The likelihood of spontaneous pubertal development and menarche is higher in those with mosaic karyotypes, although almost all patients eventually develop ovarian failure. […] Hormone replacement therapy is necessary in most girls and women with TS for induction of pubertal development, and subsequently for maintenance of estrogen dependent processes during adulthood. […] The optimal hormone replacement regimen to achieve these goals is still being investigated, although literature supports the theoretical benefits and effectiveness of transdermal estrogen delivery.

• #55 Long-Term Outcomes in Patients With Turner Syndrome: A 68-Year Follow-Up – PubMed

  https://pubmed.ncbi.nlm.nih.gov/31131660/

  Patients with TS have reduced survival compared with age-matched controls, and cardiovascular disease is the major cause of death. […] Further studies are required to determine if targeted cardiovascular risk factor modification will result in improved survival in this population.

• #56 A Review of Recent Developments in Turner Syndrome Research

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8623498/

  Despite being identified over a century ago, the exact etiology of most Turner syndrome manifestations remains unclear. This is due in part to the fact that not all individuals with Turner syndrome have the same sex chromosome composition. […] As a result, individuals with Turner syndrome are phenotypically female even though they might have been destined to be male until early loss of the Y chromosome. However, in spite of the fact that 50% of individuals with Turner syndrome have the same 45,X sex chromosome constitution, phenotypic variability is high and cannot be fully accounted for by sex chromosome variation. This has created both challenges and opportunities in identifying the dysregulated genes that impact growth and development and result in the variable and complex Turner syndrome phenotype.

• #57 A Review of Recent Developments in Turner Syndrome Research

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8623498/

  Despite being identified over a century ago, the exact etiology of most Turner syndrome manifestations remains unclear. This is due in part to the fact that not all individuals with Turner syndrome have the same sex chromosome composition. […] As a result, individuals with Turner syndrome are phenotypically female even though they might have been destined to be male until early loss of the Y chromosome. However, in spite of the fact that 50% of individuals with Turner syndrome have the same 45,X sex chromosome constitution, phenotypic variability is high and cannot be fully accounted for by sex chromosome variation. This has created both challenges and opportunities in identifying the dysregulated genes that impact growth and development and result in the variable and complex Turner syndrome phenotype.

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

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

  Overall prognosis for patients with Turner syndrome is good. […] Even with growth hormone therapy, most individuals are shorter than average. […] Turner syndrome is not a cause of intellectual disability. […] They are more likely to be employed than other adult women. […] 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.

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