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Klinefelter Syndrome

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2. A Case of Familial Male-Limited Precocious Puberty in a Child With Klinefelter Syndrome (PubMed)

A Case of Familial Male-Limited Precocious Puberty in a Child With Klinefelter Syndrome Familial male-limited precocious puberty (FMPP) is an autosomal dominant, male-limited disorder that causes peripheral precocious puberty in boys. Klinefelter syndrome (47, XXY) is the most common chromosomal aberration in males with associated infertility, hypogonadism, and learning disability. We report here a case of Klinefelter syndrome in a patient with FMPP. A 6-year-old boy was referred to our (...) pediatric endocrinology department for accelerated linear growth and premature pubic hair development. He was diagnosed with FMPP based on clinical, laboratory, and genetic sequencing. Increased levels of gonadotropins prompted further investigation, leading to a subsequent diagnosis of Klinefelter syndrome through karyotype analysis. This case illustrates that patients with FMPP and elevated gonadotropins should encourage further investigation by physicians. We recommend the use of karyotype analysis

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2018 Journal of the Endocrine Society

3. Klinefelter syndrome and fertility: sperm preservation should not be offered to children with Klinefelter syndrome. (PubMed)

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

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2016 Human Reproduction

4. Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome. (PubMed)

Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome. Klinefelter syndrome (KS) is characterized by the presence of at least one supernumerary X chromosome. KS typical symptoms include tall stature, gynecomastia, hypogonadism and azoospermia. KS patients show a higher risk of developing metabolic and cardiovascular diseases, inflammatory and autoimmune disorders, osteoporosis and cancer. Long non-coding RNA (lncRNA) growth arrest-specific 5 (GAS5) has been

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2019 BMC Medical Genetics

5. Androgen treatment effects on hippocampus structure in boys with Klinefelter syndrome. (PubMed)

Androgen treatment effects on hippocampus structure in boys with Klinefelter syndrome. Klinefelter syndrome (KS, 47,XXY) is the most common sex chromosome aneuploidy in males. A variety of complex clinical needs is associated with KS, including physical, cognitive and psychosocial impairments. Standard treatment for KS consists of androgen replacement therapy in adolescence to offset testosterone deficiency. Such treatment has a beneficial effect on the physical and behavioral manifestations (...) of this syndrome. Whether androgen supplementation has a significant influence on the brain, however, is unknown. In the current study, we examined regional gray matter volume in boys with KS to assess whether treatment with oxandrolone, a synthetic hormone analog of testosterone, was associated with structural changes in the brain. Specifically, we focused our investigation on the hippocampus, given (1) its involvement in KS, and (2) the high concentration of androgen receptors found in this region

2019 Psychoneuroendocrinology

6. Salivary testosterone in relation to social cognition and social anxiety in children and adolescents with 47,XXY (Klinefelter syndrome). (PubMed)

Salivary testosterone in relation to social cognition and social anxiety in children and adolescents with 47,XXY (Klinefelter syndrome). Approximately 1 in 650 boys are born with an extra X chromosome. Boys and men with 47,XXY (Klinefelter syndrome) are at risk for neurodevelopmental disorders and specific cognitive impairments. This study was focused on social anxiety and social cognition. The aim was to assess if these aspects of the phenotype are related to testosterone deficiency, which

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2018 PLoS ONE

7. Possible link between FSH and RANKL release from adipocytes in men with impaired gonadal function including Klinefelter syndrome. (PubMed)

Possible link between FSH and RANKL release from adipocytes in men with impaired gonadal function including Klinefelter syndrome. The FSH receptor (FSHR) has been found to be expressed in human bone cells and bone marrow-adipocytes, and highly-debated mouse studies have suggested extra-gonadal effects of gonadotropins on glucose, adipocyte and bone homeostasis. These putative effects could be direct or indirectly mediated by endocrine factors released from bone-cells or adipocytes. Here, we (...) investigated whether gonadotropins are linked with glucose- and lipid-metabolism in hypergonadotropic men.Single centre, cross-sectional study of 307 men with idiopathic infertility and 28 men with Klinefelter syndrome (KS).associations between serum LH and FSH with soluble-RANKL (sRANKL), osteoprotegerin (OPG), osteocalcin, fasting glucose and insulin, sex steroids, and body composition. Expression of FSHR was studied in human-derived adipocyte-cell-models (hMADS, TERT-hWA) and FSH stimulation of RANKL

2019 Bone

8. 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 (...) and psychosocial features and comorbidities. For patients diagnosed with KS, a range of management strategies can be used to improve health outcomes and quality of life. Keywords Klinefelter syndrome; genetics; men’s health Klinefelter syndrome: a general practice perspective demonstrated a broader phenotypic spectrum of KS with no single presentation. 5–9 The physical characteristics, psychosocial difficulties and comorbidities shown by individuals with KS are highly varied, and this should be borne in mind

2014 Clinical Practice Guidelines Portal

9. Intracytoplasmic sperm injection outcome of ejaculated spermatozoa from a man with mosaic Klinefelter's Syndrome: case report and literature review (PubMed)

Intracytoplasmic sperm injection outcome of ejaculated spermatozoa from a man with mosaic Klinefelter's Syndrome: case report and literature review Objective To report a case of abortion after intracytoplasmic sperm injection (ICSI) with ejaculated spermatozoa obtained from a man with mosaic Klinefelter's syndrome. Methods Sperm nuclei from the patient were analyzed by fluorescence in situ hybridization, and the disomy frequencies for chromosome 18 and the sex chromosomes were determined (...) . A literature review of the ICSI outcome of ejaculated sperm in patients with Klinefelter's syndrome was also performed. Results A total of 108 spermatozoa nuclei were analyzed. Of these, 102 sperm cells were normal with an X18 (55.56%) or Y18 (38.89%) chromosome pattern. Three cells with XX18 (2.78%) and three cells with YY18 (2.78%) signals were detected. The fetus stopped developing in the eighth week. The karyotype determined by an analysis of the abortive tissue was 46, XY. The literature review

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2018 The Journal of international medical research

10. Endocrine and metabolic evaluation of classic Klinefelter syndrome and high grade aneuploidies of sexual chromosomes with male phenotype: are they different clinical conditions? (PubMed)

Endocrine and metabolic evaluation of classic Klinefelter syndrome and high grade aneuploidies of sexual chromosomes with male phenotype: are they different clinical conditions? Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy in males. As well as classic KS, less frequent higher-grade aneuploidies (HGAs) are also possible. While KS and HGAs both involve testicular dysgenesis with hypergonadotropic hypogonadism, they differ in many clinical features. The aim of this study

2018 European Journal of Endocrinology

11. 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

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

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

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2018 Journal of Clinical Endocrinology and Metabolism

13. Klinefelter syndrome - integrating genetics, neuropsychology and endocrinology. (PubMed)

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

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2018 Endocrine Reviews

14. Next Generation Sequencing expression profiling of mitochondrial subunits in men with Klinefelter syndrome (PubMed)

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

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2018 International journal of medical sciences

15. Infertility in Patients With Klinefelter Syndrome: Optimal Timing for Sperm and Testicular Tissue Cryopreservation (PubMed)

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 (...) . This review focuses specifically on non-obstructive azoospermia secondary to Klinefelter syndrome and discusses controversies surrounding fertility management in patients with this genetic disorder.

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2018 Reviews in urology

16. Rapid screening for Klinefelter syndrome with a simple high-resolution melting assay: a multicenter study (PubMed)

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

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2018 Asian journal of andrology

17. Klinefelter Syndrome in Childhood: Variability in Clinical and Molecular Findings (PubMed)

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

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2018 Journal of clinical research in pediatric endocrinology

18. DNA hypermethylation and differential gene expression associated with Klinefelter syndrome (PubMed)

DNA hypermethylation and differential gene expression associated with Klinefelter syndrome Klinefelter syndrome (KS) has a prevalence ranging from 85 to 250 per 100.000 newborn boys making it the most frequent sex chromosome aneuploidy in the general population. The molecular basis for the phenotypic traits and morbidity in KS are not clarified. We performed genome-wide DNA methylation profiling of leucocytes from peripheral blood samples from 67 KS patients, 67 male controls and 33 female

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2018 Scientific reports

19. 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

20. 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

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