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Klinefelter Syndrome

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21. Klinefelter Syndrome in Childhood: Variability in Clinical and Molecular Findings (Full text)

Klinefelter Syndrome in Childhood: Variability in Clinical and Molecular Findings Klinefelter syndrome (KS) is the most common (1/500–1/1000) chromosomal disorder in males, but only 10% of cases are identified in childhood. This study aimed to review the data of children with KS to assess the age and presenting symptoms for diagnosis, clinical and laboratory findings, together with the presence of comorbidities.Twenty-three KS patients were analyzed retrospectively. Age at admission, presenting (...) , 4.8%) and a speech disorder (n=1, 4.8%). The most frequent clinical findings were neurocognitive disorders, speech impairment, social and behavioral problems and undescended testes. All except two patients were prepubertal at admission. Most of the patients (n=20, 86.9%) showed the classic 47,XXY karyotype. Steroid 5 alpha-reductase 2 gene and androgen receptor gene mutations were detected in two of the three cases with genital ambiguity.Given the large number of underdiagnosed KS patients before

2018 Journal of clinical research in pediatric endocrinology PubMed abstract

22. Transient Neonatal Diabetes due to a Mutation in KCNJ11 in a Child with Klinefelter Syndrome (Full text)

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

2018 Journal of clinical research in pediatric endocrinology PubMed abstract

23. Next Generation Sequencing expression profiling of mitochondrial subunits in men with Klinefelter syndrome (Full text)

Next Generation Sequencing expression profiling of mitochondrial subunits in men with Klinefelter syndrome Objectives: Klinefelter syndrome (KS) is one of the most common sex-chromosome disorders as it affects up to 1 in every 600-1000 newborn males. Men with KS carry one extra X chromosome and they usually present a 47,XXY karyotype, but less frequent variants have also been reported in literature. KS typical symptoms include tall stature, gynecomastia, broad hips, hypogonadism and absent (...) spermatogenesis. The syndrome is also related to a wide range of cognitive deficits, among which language-based learning disabilities and verbal cognition impairment are frequently diagnosed. The present study was carried out to investigate the role of mitochondrial subunits in KS, since the molecular mechanisms underlying KS pathogenesis are not fully understood. Methods: The study was performed by the next generation sequencing analysis and qRT-PCR assay. Results: We were able to identify a significant down

2018 International journal of medical sciences PubMed abstract

24. Infertility in Patients With Klinefelter Syndrome: Optimal Timing for Sperm and Testicular Tissue Cryopreservation (Full text)

. This review focuses specifically on non-obstructive azoospermia secondary to Klinefelter syndrome and discusses controversies surrounding fertility management in patients with this genetic disorder. (...) Infertility in Patients With Klinefelter Syndrome: Optimal Timing for Sperm and Testicular Tissue Cryopreservation Male factor infertility is a complex issue presenting many diagnostic and management challenges. It is responsible for about 50% of all causes of infertility and thus carries significant medical, financial, and psychological implications for the couples struggling with conception. Klinefelter syndrome is the most common chromosomal male anomaly associated with male infertility

2018 Reviews in urology PubMed abstract

25. Rapid screening for Klinefelter syndrome with a simple high-resolution melting assay: a multicenter study (Full text)

Rapid screening for Klinefelter syndrome with a simple high-resolution melting assay: a multicenter study Klinefelter syndrome (KS) is the set of symptoms that result from the presence of an extra X chromosome in males. Postnatal population-based KS screening will enable timely diagnosis of this common chromosomal disease, providing the opportunity for early intervention and therapy at the time point when they are most effective and may prevent later symptoms or complications. Therefore

2018 Asian journal of andrology PubMed abstract

26. Negative Association Between Sclerostin and INSL3 in Isolated Human Osteocytes and in Klinefelter Syndrome: New Hints for Testis-Bone Crosstalk. (Full text)

Negative Association Between Sclerostin and INSL3 in Isolated Human Osteocytes and in Klinefelter Syndrome: New Hints for Testis-Bone Crosstalk. The regulation of bone mass by the testis is a well-recognized mechanism, but the role of Leydig-specific marker insulin-like 3 peptide (INSL3) on the most abundant bone cell population, osteocytes, is unknown. In this study, we aimed to investigate the relationship between INSL3 and sclerostin, an osteocyte-specific protein that negatively regulates (...) bone formation.Serum sclerostin and INSL3 levels were evaluated in Klinefelter syndrome (KS) and healthy controls. In vitro effect of INSL3 on sclerostin production was evaluated in human cultured osteocytes.A total of 103 KS patients and 60 age- and sex-matched controls were recruited.Serum sclerostin and INSL3 levels were assessed by enzyme-linked immunosorbent assay. Osteocytes were isolated by fluorescence-assisted cell sorting. Sclerostin expression was evaluated by western blot

2018 Journal of Clinical Endocrinology and Metabolism PubMed abstract

27. Klinefelter syndrome - integrating genetics, neuropsychology and endocrinology. (Full text)

Klinefelter syndrome - integrating genetics, neuropsychology and endocrinology. Although first identified over 70 years ago, Klinefelter syndrome (KS) continues to pose substantial diagnostic challenges, as many patients are still misdiagnosed, or remain undiagnosed. In fact, as few as 25% of patients with KS are accurately diagnosed and most of these diagnoses are not made until adulthood. Classic characteristics of KS include small testes, infertility, hypergonadothropic hypogonadism (...) both morbidity and mortality). In addition, hypogonadism is associated with greater risk of metabolic syndrome, type 2 diabetes, cardiovascular disease, breast cancer, and extragonadal germ cell tumors. Medical treatment typically focuses on testosterone replacement therapy (TRT), although the effects of this therapy have not been studied rigorously, and future studies need to evaluate the effects of TRT on metabolic risk and neurocognitive outcomes. This review presents a comprehensive

2018 Endocrine Reviews PubMed abstract

28. Microdissection testicular sperm extraction in five Japanese patients with non‐mosaic Klinefelter's syndrome (Full text)

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

2018 Reproductive Medicine and Biology PubMed abstract

29. 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 (Full text)

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 (...) 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

2018 BMC medical genomics PubMed abstract

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

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 PubMed abstract

31. When does germ cell loss and fibrosis occur in patients with Klinefelter syndrome? (Full text)

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

2018 Human Reproduction PubMed abstract

32. Beyond the Literal Meaning of Words in Children with Klinefelter Syndrome: Two Case Studies (Full text)

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

2018 Brain sciences PubMed abstract

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

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

2018 World journal of surgical oncology PubMed abstract

34. Klinefelter syndrome-a general practice perspective

Klinefelter syndrome-a general practice perspective 38 REPRINTED FROM AUSTRALIAN FAMILY PHYSICIAN VOL. 43, NO. 1–2, JANUARY– FEBRUARY 2014 CLINICAL Background Klinefelter syndrome (KS) is a common genetic condition affecting one in 450 men, but is only diagnosed in fewer than half of those affected. Objective To increase awareness among general practitioners of their role in the diagnosis and management of KS. Discussion KS has a highly varied phenotype comprising a range of physical (...) ). Klinefelter syndrome (KS) is a common genetic condition, affecting one in 450 men. 1 KS is caused by the presence, in men, of one or more supernumerary X chromosomes. Most men with KS have a 47,XXY karyotype; 2–3 however 20% have a variant form, which most commonly is the presence of higher numbers of X chromosomes (eg. 48,XXXY), or mosaicism for two or more cell populations (eg. 46,XY/47,XXY). 2–3 Men with a mosaic picture typically present with a less severe phenotype than men with a 47,XXY karyotype. 4

2014 Clinical Practice Guidelines Portal

35. Combination of Klinefelter syndrome and celiac disease: A case report (Full text)

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.

2017 Molecular genetics and metabolism reports PubMed abstract

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

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

2017 Journal of developmental and behavioral pediatrics : JDBP PubMed abstract

37. Klinefelter syndrome and fertility: sperm preservation should not be offered to children with Klinefelter syndrome. (Full text)

Klinefelter syndrome and fertility: sperm preservation should not be offered to children with Klinefelter syndrome. Should fertility preservation be offered to children with Klinefelter syndrome (KS)?Current evidence shows that fertility preservation should not be offered to adolescents with KS younger than 16 years because of lower retrieval rates for germ cells by testicular sperm extraction (TESE) compared with retrieval rates for adolescents and adults between 16 and 30 years.KS, the most (...) spermatozoa can be found by TESE in about 50% of adults with KS despite severe testicular degeneration. This review discusses the current evidence for fertility preservation in children and adolescents and possible prognostic markers for fertility treatment in KS.An extensive literature search was conducted, searching Pubmed, Embase, Cinahl and Web of Science from origin until April 2016 for 'Klinefelter syndrome' and 'fertility' and various synonyms. Titles and abstracts have been scanned manually

2016 Human Reproduction PubMed abstract

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

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

2017 Acta Stomatologica Croatica PubMed abstract

39. Decreased miRNA expression in Klinefelter syndrome (Full text)

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 (...) ) considering KS patients. These results were confirmed by qRT-PCR. The functional analysis of the two transcripts showed that they seem to play a role in breast cancer, hemopoietic abnormalities, immune defects and adipocyte differentiation and fat cell maturation. Therefore, we speculate that both miRNAs may play a role in the immune and metabolic disorders and in the risk of breast cancer development in men with KS.

2017 Scientific reports PubMed abstract

40. The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome (Full text)

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 (...) was mediated by both lower intelligence and less social engagement.Our results suggest that among patients with KS, memory deficits are principally a function of lower general intelligence, while executive-function deficits are associated with both lower intelligence and poorer social skills. This suggests a potential influence of social engagement on executive cognitive functioning (and/or vice-versa) among individuals with KS, and perhaps those with other genetic disorders. Future longitudinal research

2017 Brain and behavior PubMed abstract

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