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Klinefelter Syndrome

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21. Calcifying nested stromal epithelial tumor of the liver in a patient with Klinefelter syndrome: a case report and review of the literature (PubMed)

Calcifying nested stromal epithelial tumor of the liver in a patient with Klinefelter syndrome: a case report and review of the literature Calcifying nested stromal epithelial tumor (CNSET) is a primary neoplasm of the liver, characterized by well-demarcated nests consisting of spindle and epithelioid cells with calcification and bone formation. An association of Cushing syndrome with CNSET has drawn attention, but the origin of CNSET has not been clarified.We report here the case of a 20-year (...) -old male with Klinefelter syndrome who underwent liver resection for an increasing liver tumor that was pathologically diagnosed with CNSET. He was postoperatively followed up and received several examinations, and recurrences and extrahepatic lymph node metastases were detected on the 64th day after surgery. Chemoembolization and chemotherapy were not effective, leading to tumor progression with development of progressive liver failure, and the patient finally died 164 days after hepatectomy.This

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2018 World journal of surgical oncology

22. Beyond the Literal Meaning of Words in Children with Klinefelter Syndrome: Two Case Studies (PubMed)

Beyond the Literal Meaning of Words in Children with Klinefelter Syndrome: Two Case Studies Literature on children with Klinefelter Syndrome (KS) points to general linguistic difficulties in both comprehension and production among other cognitive functions, and in the majority of cases, these coexist with an intellectual level within the norms. In these conditions, children having language delay generally engage in language therapy and are systematically monitored across ages. In this article

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2018 Brain sciences

23. The Effect of PAI-1 Gene Variants and PAI-1 Plasma Levels on Development of Thrombophilia in Patients With Klinefelter Syndrome (PubMed)

The Effect of PAI-1 Gene Variants and PAI-1 Plasma Levels on Development of Thrombophilia in Patients With Klinefelter Syndrome Klinefelter syndrome (KS) is a common sex chromosome-related abnormality seen among men. KS negatively affects spermatogenesis and testosterone production. It increases the risk of thrombosis but its molecular mechanism has not been well described yet. Elevated PAI-1 is a risk factor for thrombosis. The rs1799889 polymorphism located in the promoter region of the PAI-1

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2018 American journal of men's health

24. A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity (PubMed)

A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity Congenital adrenal hyperplasia (CAH) due to the three-beta-hydroxysteroid-dehydrogenase (3β-HSD) enzyme deficiency is a rare autosomal recessive disorder presenting with sexual precocity in a phenotypic male. Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy presenting with hypergonadotropic hypogonadism in a male

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2018 Endocrinology, diabetes & metabolism case reports

25. Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics (PubMed)

Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good approximates of complex functions, so (...) classification can be performed without the need for explicitly defined input-output model. This engineering tool can be applied for optimization of existing methods for disease/syndrome classification. Cytogenetic and molecular analyses are the most frequent tests used in prenatal diagnostic for the early detection of Turner, Klinefelter, Patau, Edwards and Down syndrome. These procedures can be lengthy, repetitive; and often employ invasive techniques so a robust automated method for classifying

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2018 BMC medical genomics

26. Transient Neonatal Diabetes due to a Mutation in KCNJ11 in a Child with Klinefelter Syndrome (PubMed)

Transient Neonatal Diabetes due to a Mutation in KCNJ11 in a Child with Klinefelter Syndrome Klinefelter syndrome is the most frequent chromosomal aneuploidy in males occurring in about 1 in 660 males. Epidemiological studies have demonstrated increased risk of type 1 diabetes and type 2 diabetes in adults with Klinefelter syndrome. There is only one previous report of neonatal diabetes in a patient with Klinefelter syndrome. We report transient neonatal diabetes due to a pathogenic (...) heterozygous variant in KCNJ11 in a male infant with Klinefelter syndrome. A 78-day old male infant was noted to have sustained hyperglycemia with serum glucose ranging between 148 mg/dL (8.2 mmol/L) and 381 mg/dL (21.2 mmol/L) three days after undergoing a complete repair of an atrioventricular defect. Hemoglobin A1c was 6.6%. The patient was born at term with a birth weight of 2.16 kg following a pregnancy complicated by gestational diabetes that was controlled with diet. The patient was initially

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2018 Journal of clinical research in pediatric endocrinology

27. Microdissection testicular sperm extraction in five Japanese patients with non‐mosaic Klinefelter's syndrome (PubMed)

Microdissection testicular sperm extraction in five Japanese patients with non‐mosaic Klinefelter's syndrome Microdissection testicular sperm extraction (micro-TESE) was performed on five Japanese men with non-mosaic Klinefelter's syndrome (KS) and non-obstructive azoospermia in the authors' department. Here is reported the operative results and partner's clinical course for two cases where spermatozoa could be acquired. Also encountered was a man with non-mosaic KS with the partial deletion

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2018 Reproductive Medicine and Biology

28. Klinefelter syndrome in males with germ cell tumors: A report from the children's oncology group. (PubMed)

Klinefelter syndrome in males with germ cell tumors: A report from the children's oncology group. Males with Klinefelter syndrome (KS) (47,XXY) may be more likely to develop germ cell tumors (GCTs), particularly mediastinal GCTs. To date, there are no reports characterizing the prevalence of KS among male GCT cases.The authors used array genotyping data from a Children's Oncology Group epidemiology study to estimate the prevalence of KS in males with GCTs (433 males aged birth-19 years). Using (...) ; 95% confidence interval, 11.7-30.0).Compared with males without chromosomal abnormalities, males with KS are more likely to be diagnosed with a mediastinal GCT. The presence of KS should be considered in males with a diagnosis of mediastinal GCT. In the current study, the authors report that approximately one-third of males with mediastinal germ cell tumors have Klinefelter syndrome, and therefore screening of these individuals for the syndrome may be warranted. Males with Klinefelter syndrome

2018 Cancer

29. When does germ cell loss and fibrosis occur in patients with Klinefelter syndrome? (PubMed)

When does germ cell loss and fibrosis occur in patients with Klinefelter syndrome? When does germ cell loss and fibrosis occur in patients with Klinefelter syndrome (KS)?In KS, germ cell loss is not observed in testicular tissue from fetuses in the second semester of pregnancy but present at a prepubertal age when the testicular architecture is still normal, while fibrosis is highly present at an adolescent age.Most KS patients are azoospermic at adult age because of a massive germ cell loss (...) and prepubertal ages, but peripubertal and adult KS patients showed high levels of fibrosis.N/A.Only four prepubertal biopsies were included in this study, but they all showed a very low germ cell number. A high variability in the number of spermatogonia per mm2 was observed in the limited (n = 5) number of foetal biopsies. However, testicular biopsies from prepubertal and foetal Klinefelter patients are difficult to obtain.Testicular tissue banking at a prepubertal age has been suggested as a potential

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2018 Human Reproduction

30. Oxandrolone Treatment Results in an Increased Risk of Gonadarche in Prepubertal Boys with Klinefelter Syndrome. (PubMed)

Oxandrolone Treatment Results in an Increased Risk of Gonadarche in Prepubertal Boys with Klinefelter Syndrome. Klinefelter syndrome (KS) is a common genetic condition in which males have an extra X chromosome. KS is associated with testosterone deficiency, neurodevelopmental delays, and cardiometabolic disorders. There has been recent interest in prepubertal androgen treatment; however, the effects on puberty and gonadal function are unknown.To compare onset of puberty and testicular function

2018 Journal of Clinical Endocrinology and Metabolism Controlled trial quality: predicted high

31. Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis. (PubMed)

Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis. Specific factors underlying successful surgical sperm retrieval rates (SRR) or pregnancy rates (PR) after testicular sperm extraction (TESE) in adult patients with Klinefelter syndrome (KS) have not been completely clarified.The aim of this review was to meta-analyse the currently available data from subjects with KS regarding SRRs as the primary outcome. In addition, when available, PRs and live

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2017 Human Reproduction Update

32. The Benefits and Limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome). (PubMed)

The Benefits and Limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome). The purpose of this paper is to provide an overview of the 47, XXY syndrome, which is the most commonly occurring X and Y chromosomal variation. This paper seeks to review what is currently known of noninvasive prenatal testing (NIPT) and 47, XXY and investigate potential risks and benefits of prenatal identification.A literature review of NIPT and 47, XXY was performed to identify limitations of current

2017 Prenatal diagnosis

33. Portal Vein Thrombosis Due to an Increase in Dose of Testosterone in a Young Man with Klinefelter Syndrome (PubMed)

Portal Vein Thrombosis Due to an Increase in Dose of Testosterone in a Young Man with Klinefelter Syndrome Klinefelter syndrome (KS) is associated with increased incidence of thrombotic events. Hypofibrinolysis is associated with increased risk of thromboembolism. Although testosterone replacement therapy (TRT) inhibits the hypofibrinolysis, it can still cause thrombosis paradoxically due to increased dose and duration of use. Herein, we present a case of a young male diagnosed with KS who

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2017 Cureus

34. Decreased miRNA expression in Klinefelter syndrome (PubMed)

Decreased miRNA expression in Klinefelter syndrome The widelyvariable phenotypic spectrum and the different severity of symptoms in men with Klinefelter syndrome (KS) suggest a role for epigenetic mediators. Therefore, the aim of this study is to evaluate the possible involvement of miRNAs in the clinical manifestations of KS. To accomplish this, we performed a transcriptome analysis in peripheral blood mononuclear cells (PBMCs) of 10 non-mosaic KS patients, 10 aged-matched healthy men and 10

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2017 Scientific reports

35. Differences in the Eruption Angle of Palatally Displaced Canines in Klinefelter Syndrome: a Retrospective Study on Panoramic Radiographs (PubMed)

Differences in the Eruption Angle of Palatally Displaced Canines in Klinefelter Syndrome: a Retrospective Study on Panoramic Radiographs To investigate the eruption angle of maxillary canine in patients with Klinefelter syndrome (KS) in which high prevalence of palatally displaced canine anomaly (PDC) has been found by clinical assessment.The sample consisted of 37 KS males aged 20-34 years (mean 27 years) and the control group which consisted of 78 healthy males aged 20-27 years (mean 23 years (...) ). A pioneer method was used to measure the eruption angle. It was based on determining the topographic construction of mandibular gonion line called GO-GO method on panoramic radiograph.The mean of eruption angle was increased for 10.58° in the right side and 9.69 ° in left side in patients with KS compared to those in the control group. The difference of mesioangular inclination of palatally displaced canines in Klinefelter patients was statistically significant (p< 0.01). When eruption angle

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2017 Acta Stomatologica Croatica

36. The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome (PubMed)

The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome The determinants of cognitive deficits among individuals with Klinefelter syndrome (KS) are not well understood. This study was conducted to assess the impact of general intelligence, personality, and social engagement on cognitive performance among patients with KS and a group of controls matched for age and years of education.Sixty-nine patients with KS and 69 controls were

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2017 Brain and behavior

37. Sperm Retrieval in Patients with Klinefelter Syndrome: A Skewed Regression Model Analysis (PubMed)

Sperm Retrieval in Patients with Klinefelter Syndrome: A Skewed Regression Model Analysis The most common chromosomal abnormality due to non-obstructive azoospermia (NOA) is Klinefelter syndrome (KS) which occurs in 1-1.72 out of 500-1000 male infants. The probability of retrieving sperm as the outcome could be asymmetrically different between patients with and without KS, therefore logistic regression analysis is not a well-qualified test for this type of data. This study has been designed

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2017 International journal of fertility & sterility

38. Combination of Klinefelter syndrome and celiac disease: A case report (PubMed)

Combination of Klinefelter syndrome and celiac disease: A case report Klinefelter syndrome (KS) is a chromosomal abnormality characterised by a 47, XXY karyotype associated with hypogonadism and infertility. We present a case of a 20-year-old patient who applied to our clinic because of growth deficiency and was concurrently diagnosed with Klinefelter syndrome and celiac disease.

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2017 Molecular genetics and metabolism reports

39. Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity (PubMed)

Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity Klinefelter syndrome (KS) (47,XXY) is the most common male sex chromosome aneuploidy. Diagnosis and clinical supervision remain a challenge due to varying phenotypic presentation and insufficient characterization of the syndrome. Here we combine health data-driven epidemiology and molecular level systems biology to improve the understanding of KS and the molecular interplay

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2017 Human molecular genetics

40. Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter syndrome, XYY, and XXYY (PubMed)

Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter syndrome, XYY, and XXYY Neurodevelopmental concerns in males with sex chromosome aneuploidy (SCA) (XXY/Klinefelter syndrome, XYY, XXYY) include symptoms seen in autism spectrum disorder (ASD), such as language impairments and social difficulties. We aimed to: (1) evaluate ASD characteristics in research cohorts of SCA males under DSM-IV compared to DSM-5 criteria, and (2) analyze factors associated with ASD

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2017 Journal of developmental and behavioral pediatrics : JDBP

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