Introduction: Turner syndrome is a rare genetic disorder characterised by the presence of one X chromosome and the absence of part or all of an X or Y chromosome and patients may experience delayed puberty and inferti...Introduction: Turner syndrome is a rare genetic disorder characterised by the presence of one X chromosome and the absence of part or all of an X or Y chromosome and patients may experience delayed puberty and infertility. Our study aimed to evaluate the diagnostic delay in our practice and analyze the impact of this diagnostic delay on the effectiveness of patient management. Patients and Methods: Turner syndrome patients were identified from the endocrinology-diabetology nutrition department Database We examined the records of patients in whom the karyotype analysis favoured Turner syndrome. Results: We have selected 5 patients’ records of female patients with Turner syndrome. The mean age was 25, ranging from 19 to 29 years. Primary amenorrhea and characteristic dysmorphic features were observed in all patients. One married patient, who sought consultation for infertility, expressed a desire for pregnancy. Short stature was identified in 3 patients. Primary hypothyroidism and hypertension were respectively found in 1 and 2 patients. Gonadal dysgenesis was noted in 100% of cases. Karyotype analysis revealed monosomy X in 2 patients and mosaic patterns in others. All patients received estrogen-progestin treatment. Antihypertensive therapy was initiated for 2 patients. One patient is on L-thyroxine. In the short term, treatment led to the onset of menstruation after the initial months. Evaluation of treatment efficacy on internal genital organs is yet to be performed. Due to uncertain benefits at this age, growth hormone therapy was not considered for our patients. We provided counseling on assisted reproductive options for couples desiring to conceive. In our study, all patients were placed on estrogen-progestin therapy, and the response appeared favorable. Conclusion: In our practice, the diagnosis of Turner syndrome occurs very late in adulthood, at an age when growth hormone treatment is nearly ineffective. Treatment typically revolves around estrogen-progestin therapy, along with managing other comorbiditi展开更多
The extra gonadal consequences of Turner’s Syndrome (TS) also pose risks to patients, namely cardiovascular. Clinicians should maintain a level of clinical suspicion for TS in patients with primary amenorrhea even wi...The extra gonadal consequences of Turner’s Syndrome (TS) also pose risks to patients, namely cardiovascular. Clinicians should maintain a level of clinical suspicion for TS in patients with primary amenorrhea even without typical physical characteristics. Interestingly, TS has uncommon variant forms with varying degrees of clinical manifestations. Even so, all TS and TS variants maintain a high risk for cardiovascular events. Therefore, early TS diagnosis is of utmost importance. Here, we present a case of a young, African-American woman with primary amenorrhea with few overt clinical signs of TS. With high clinical suspicion, genetic testing is pursued and demonstrates the TS variant. This is important because variant forms have a similar increased risk of premature hypertension, diabetes, and aortic dissection.展开更多
There is increasing evidence that patients with gonad dysplasia,as characterized by absent or incomplete puberty,can also exhibit central precocious puberty(CPP).Herein,we review the reported cases that manifest with ...There is increasing evidence that patients with gonad dysplasia,as characterized by absent or incomplete puberty,can also exhibit central precocious puberty(CPP).Herein,we review the reported cases that manifest with both gonad dysplasia and CPP.Further,we examine the hypothesis that these patients exhibit a normal hypothalamic-pituitarygonadal axis,hypogonadism,and the presence of residual gonadal function,and that the onset of disease is related to early initiation of the hypothalamic-pituitary-gonadal axis.Thus,we suggest that CPP is a prelude of some partial hypogonadism.展开更多
Aortic size index(ASI) has been proposed as a reliable criterion to predict risk for aortic dissection in Turner syndrome with significant thresholds of 20-25 mm/m2. We report a case of aortic arch dissection in a pat...Aortic size index(ASI) has been proposed as a reliable criterion to predict risk for aortic dissection in Turner syndrome with significant thresholds of 20-25 mm/m2. We report a case of aortic arch dissection in a patient with Turner syndrome who, from the ASI thresholds proposed, was deemed to be at low risk of aortic dis-section or rupture and was not eligible for prophylactic surgery. This case report strongly supports careful monitoring and surgical evaluation even when the ASI is < 20 mm/m2 if other significant risk factors are present.展开更多
To the Editor:Turner syndrome is the most common sexchromosome abnormality in females with an incidence of 1 per 2500 female live births,and it is associated with either complete or partial loss of one X chromosome.[1...To the Editor:Turner syndrome is the most common sexchromosome abnormality in females with an incidence of 1 per 2500 female live births,and it is associated with either complete or partial loss of one X chromosome.[1]Predicting the risk of Turner syndrome in the first trimester of pregnancy is of critical importance,in order to provide parturient with reproductive choices for affected fetuses at the earliest opportunity.展开更多
Turner syndrome(TS)is a chromosomal disorder disease that only affects the growth of female patients.Prompt diagnosis is of high significance for the patients.However,clinical screening methods are time-consuming and ...Turner syndrome(TS)is a chromosomal disorder disease that only affects the growth of female patients.Prompt diagnosis is of high significance for the patients.However,clinical screening methods are time-consuming and cost-expensive.Some researchers used machine learning-based methods to detect TS,the performance of which needed to be improved.Therefore,we propose an ensemble method of two-path capsule networks(CapsNets)for detecting TS based on global-local facial images.Specifically,the TS facial images are preprocessed and segmented into eight local parts under the direction of physicians;then,nine two-path CapsNets are respectively trained using the complete TS facial images and eight local images,in which the few-shot learning is utilized to solve the problem of limited data;finally,a probability-based ensemble method is exploited to combine nine classifiers for the classification of TS.By studying base classifiers,we find two meaningful facial areas are more related to TS patients,i.e.,the parts of eyes and nose.The results demonstrate that the proposed model is effective for the TS classification task,which achieves the highest accuracy of 0.9241.展开更多
Turner syndrome patients partially or completely lack the X chromosome. 1 - 2500 female live births are affected. Clinical features include webbed neck, short stature, broad chest etc. Bicuspid aortic valve disease (B...Turner syndrome patients partially or completely lack the X chromosome. 1 - 2500 female live births are affected. Clinical features include webbed neck, short stature, broad chest etc. Bicuspid aortic valve disease (BAV) occurs in more than 30% of Turner syndrome patients causing significant morbidity and mortality. We aimed to establish a more reliable estimate of the prevalence of BAV in Turner syndrome. PubMed, Embase and PsycINFO databases were searched until 2022. Review Manager (RevMan 5.4.1) and the JASP software (0.16.00) were used for meta-analysis. 15 studies with a total of 3189 patients were combined. The pooled prevalence of BAV in Turner syndrome was 22.0% (95% CI: 15.0% - 29.0%). Sub group analysis by 45, X0 karyotype and age had prevalence of 24.0% and 8% respectively. The studies had high heterogeneity and possible publication biases. In summary, the study established that the prevalence of BAV in Turner syndrome patients diagnosed by echocardiogram, CT and MRI scans, is 22.0%, and 24% in patients with true monosomy 45, X0 karyotypes. Routine BAV exam should pay particular attention to monosomy 45, X0 karyotype patients, and where possible, CT and MRI should always accompany echocardiography for BAV screening, especially for pediatrics.展开更多
文摘Introduction: Turner syndrome is a rare genetic disorder characterised by the presence of one X chromosome and the absence of part or all of an X or Y chromosome and patients may experience delayed puberty and infertility. Our study aimed to evaluate the diagnostic delay in our practice and analyze the impact of this diagnostic delay on the effectiveness of patient management. Patients and Methods: Turner syndrome patients were identified from the endocrinology-diabetology nutrition department Database We examined the records of patients in whom the karyotype analysis favoured Turner syndrome. Results: We have selected 5 patients’ records of female patients with Turner syndrome. The mean age was 25, ranging from 19 to 29 years. Primary amenorrhea and characteristic dysmorphic features were observed in all patients. One married patient, who sought consultation for infertility, expressed a desire for pregnancy. Short stature was identified in 3 patients. Primary hypothyroidism and hypertension were respectively found in 1 and 2 patients. Gonadal dysgenesis was noted in 100% of cases. Karyotype analysis revealed monosomy X in 2 patients and mosaic patterns in others. All patients received estrogen-progestin treatment. Antihypertensive therapy was initiated for 2 patients. One patient is on L-thyroxine. In the short term, treatment led to the onset of menstruation after the initial months. Evaluation of treatment efficacy on internal genital organs is yet to be performed. Due to uncertain benefits at this age, growth hormone therapy was not considered for our patients. We provided counseling on assisted reproductive options for couples desiring to conceive. In our study, all patients were placed on estrogen-progestin therapy, and the response appeared favorable. Conclusion: In our practice, the diagnosis of Turner syndrome occurs very late in adulthood, at an age when growth hormone treatment is nearly ineffective. Treatment typically revolves around estrogen-progestin therapy, along with managing other comorbiditi
文摘The extra gonadal consequences of Turner’s Syndrome (TS) also pose risks to patients, namely cardiovascular. Clinicians should maintain a level of clinical suspicion for TS in patients with primary amenorrhea even without typical physical characteristics. Interestingly, TS has uncommon variant forms with varying degrees of clinical manifestations. Even so, all TS and TS variants maintain a high risk for cardiovascular events. Therefore, early TS diagnosis is of utmost importance. Here, we present a case of a young, African-American woman with primary amenorrhea with few overt clinical signs of TS. With high clinical suspicion, genetic testing is pursued and demonstrates the TS variant. This is important because variant forms have a similar increased risk of premature hypertension, diabetes, and aortic dissection.
文摘There is increasing evidence that patients with gonad dysplasia,as characterized by absent or incomplete puberty,can also exhibit central precocious puberty(CPP).Herein,we review the reported cases that manifest with both gonad dysplasia and CPP.Further,we examine the hypothesis that these patients exhibit a normal hypothalamic-pituitarygonadal axis,hypogonadism,and the presence of residual gonadal function,and that the onset of disease is related to early initiation of the hypothalamic-pituitary-gonadal axis.Thus,we suggest that CPP is a prelude of some partial hypogonadism.
文摘Aortic size index(ASI) has been proposed as a reliable criterion to predict risk for aortic dissection in Turner syndrome with significant thresholds of 20-25 mm/m2. We report a case of aortic arch dissection in a patient with Turner syndrome who, from the ASI thresholds proposed, was deemed to be at low risk of aortic dis-section or rupture and was not eligible for prophylactic surgery. This case report strongly supports careful monitoring and surgical evaluation even when the ASI is < 20 mm/m2 if other significant risk factors are present.
基金supported by grants from the National Natural Science Foundation of China(Nos.81971619,82202182)the China Postdoctoral Science Foundation(No.2020TQ0207)Postdoctoral Foundation provide by Beijing Obstetrics and Gynecology Hospital,Capital Medical University.
文摘To the Editor:Turner syndrome is the most common sexchromosome abnormality in females with an incidence of 1 per 2500 female live births,and it is associated with either complete or partial loss of one X chromosome.[1]Predicting the risk of Turner syndrome in the first trimester of pregnancy is of critical importance,in order to provide parturient with reproductive choices for affected fetuses at the earliest opportunity.
基金the National Key R&D Program of China(No.2020YFB2104402)。
文摘Turner syndrome(TS)is a chromosomal disorder disease that only affects the growth of female patients.Prompt diagnosis is of high significance for the patients.However,clinical screening methods are time-consuming and cost-expensive.Some researchers used machine learning-based methods to detect TS,the performance of which needed to be improved.Therefore,we propose an ensemble method of two-path capsule networks(CapsNets)for detecting TS based on global-local facial images.Specifically,the TS facial images are preprocessed and segmented into eight local parts under the direction of physicians;then,nine two-path CapsNets are respectively trained using the complete TS facial images and eight local images,in which the few-shot learning is utilized to solve the problem of limited data;finally,a probability-based ensemble method is exploited to combine nine classifiers for the classification of TS.By studying base classifiers,we find two meaningful facial areas are more related to TS patients,i.e.,the parts of eyes and nose.The results demonstrate that the proposed model is effective for the TS classification task,which achieves the highest accuracy of 0.9241.
文摘Turner syndrome patients partially or completely lack the X chromosome. 1 - 2500 female live births are affected. Clinical features include webbed neck, short stature, broad chest etc. Bicuspid aortic valve disease (BAV) occurs in more than 30% of Turner syndrome patients causing significant morbidity and mortality. We aimed to establish a more reliable estimate of the prevalence of BAV in Turner syndrome. PubMed, Embase and PsycINFO databases were searched until 2022. Review Manager (RevMan 5.4.1) and the JASP software (0.16.00) were used for meta-analysis. 15 studies with a total of 3189 patients were combined. The pooled prevalence of BAV in Turner syndrome was 22.0% (95% CI: 15.0% - 29.0%). Sub group analysis by 45, X0 karyotype and age had prevalence of 24.0% and 8% respectively. The studies had high heterogeneity and possible publication biases. In summary, the study established that the prevalence of BAV in Turner syndrome patients diagnosed by echocardiogram, CT and MRI scans, is 22.0%, and 24% in patients with true monosomy 45, X0 karyotypes. Routine BAV exam should pay particular attention to monosomy 45, X0 karyotype patients, and where possible, CT and MRI should always accompany echocardiography for BAV screening, especially for pediatrics.
