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Klinefelter Syndrome

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81. Testis Transcriptome Modulation in Klinefelter Patients with Hypospermatogenesis (PubMed)

Testis Transcriptome Modulation in Klinefelter Patients with Hypospermatogenesis The main genetic cause of male infertility is represented by the Klinefelter Syndrome (KS), a condition accounting for 3% of all cases of infertility and up to15% of cases of azoospermia. KS is generally characterized by azoospermia; approximately 10% of cases have severe oligozoospermia. Among these, the 30-40% of patients show hypospermatogenesis. The mechanisms leading to adult testis dysfunctions

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2017 Scientific reports

82. A Rare Double Aneuploidy Case (Down–Klinefelter) (PubMed)

A Rare Double Aneuploidy Case (Down–Klinefelter) Down's syndrome has its own dysmorphic findings and is accompanied by mental retardation and hypotonia. Klinefelter's syndrome is a syndrome caused by a numerical abnormality that affects male physical and cognitive development. This case reports a unique finding of 48,XXY, + 21 and a current literature review. A 4-month-old male patient presented with typical clinical features of Down's syndrome with hypothyroidism, atrial septal defect (...) , ventricular septal defect, and patent ductus arteriosus without any phenotypic signs of Klinefelter's syndrome.

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2017 Journal of pediatric genetics

83. Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13 (PubMed)

Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13 Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized by severe developmental delay and speech impairment, balanced and behavioral disturbance as well as microcephaly, seizures, and a characteristic electroencephalogram (EEG). The majority of AS cases (70%) are caused by a 15q11.2-q13 deletion (...) on the maternally derived chromosome. The frequency of AS has been estimated to be between 1/10000 and 1/20000. Klinefelter syndrome (KS) occurs due to the presence of an extra X chromosome (karyotype 47,XXY). The main features in KS are small testes, hypergonadotropic hypogonadism, gynecomastia, learning difficulties, and infertility. We present what is, to our knowledge, the first case of a patient with both KS and AS due to a 15q11.2-q13 deletion on the maternally derived chromosome and an extra X chromosome

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2014 Case Reports in Genetics

84. Klinefelter's syndrome diagnosis and management

Klinefelter's syndrome diagnosis and management Australian Clinical Practice Guidelines Toggle navigation Welcome to Australian Clinical Practice Guidelines An initiative of the NHMRC Looking for a clinical practice guideline? The Guidelines Portal provides a single entry point for access to clinical practice guidelines developed for use in Australian health care settings Developing a clinical practice guideline? Consider sharing information about your guideline in development by registering

2010 Clinical Practice Guidelines Portal

85. Thrombosis and Neurocognition in Klinefelter Syndrome

Thrombosis and Neurocognition in Klinefelter Syndrome Thrombosis and Neurocognition in Klinefelter Syndrome - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Thrombosis and Neurocognition in Klinefelter (...) University Hospital Hospital of South West Denmark University of Southern Denmark Sygehus Lillebaelt Information provided by (Responsible Party): University of Aarhus Study Details Study Description Go to Brief Summary: The haemostatic balance and neurocognitive capability of men with Klinefelter syndrome is compared to healthy controls by using specific biochemical assays for coagulation and fibrinolysis and a selection of neuropsychological tests and brain fMRI. Furthermore, the effect of gonadal

2015 Clinical Trials

86. Fertility Assessment in Patients With Klinefelter Syndrome

Fertility Assessment in Patients With Klinefelter Syndrome Fertility Assessment in Patients With Klinefelter Syndrome - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Fertility Assessment in Patients (...) With Klinefelter Syndrome The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT02461303 Recruitment Status : Terminated (Unable to recruit the anticipated number of subjects for this study) First Posted : June 3, 2015 Last Update Posted : July 24, 2018 Sponsor: University of Pittsburgh Information provided

2015 Clinical Trials

87. Testicular biopsy and cryopreservation for fertility preservation of pre-pubertal boys with Klinefelter syndrome: a pro/con debate. (PubMed)

Testicular biopsy and cryopreservation for fertility preservation of pre-pubertal boys with Klinefelter syndrome: a pro/con debate. In about one-half of adult Klinefelter syndrome (KS) patients, spermatozoa can be retrieved by means of testicular biopsy (TESE). Given the expected increase in the number of diagnosed KS patients owing to the use of noninvasive prenatal testing, the probable questions of young KS patients and their parents regarding future fertility, and the fact that widespread

2015 Fertility and Sterility

88. Metastatic choriocarcinoma induced separate simultaneous intracerebral haemorrhages: a very rare occurrence and its novel association with Klinefelter syndrome (PubMed)

Metastatic choriocarcinoma induced separate simultaneous intracerebral haemorrhages: a very rare occurrence and its novel association with Klinefelter syndrome Non-traumatic separate simultaneous intracerebral haemorrhages (SSIHs) are rare. Relevant aetiologies are diverse and their diagnosis challenging. We report a unique case of SSIH in an 18-year-old male with a background of previously undiagnosed testicular choriocarcinoma and Klinefelter syndrome. The patient was admitted to Auckland

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2015 BMJ case reports

89. Vitrectomy for Proliferative Diabetic Retinopathy Associated with Klinefelter Syndrome (PubMed)

Vitrectomy for Proliferative Diabetic Retinopathy Associated with Klinefelter Syndrome We encountered a patient with Klinefelter syndrome (KS) who experienced poor outcomes after vitrectomy for proliferative diabetic retinopathy (PDR).A 44-year-old male with poorly controlled diabetes was diagnosed with KS by chromosome analysis. Ocular findings revealed severe PDR complicated with extensive preretinal hemorrhages and traction retinal detachment in his left eye, and pars plana vitrectomy

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2015 Case reports in ophthalmology

90. Gynecomastia and Klinefelter Syndrome (PubMed)

Gynecomastia and Klinefelter Syndrome 26715949 2015 12 30 2019 02 26 1937-5719 15 2015 Eplasty Eplasty Gynecomastia and Klinefelter Syndrome. ic61 Singer-Granick Carol J CJ Division of Pediatric Endocrinology, Department of Pediatrics, New Jersey Medical School, Rutgers University, Newark. Reisler Tom T Division of Plastic and Reconstructive Surgery, Department of Surgery, New Jersey Medical School, Rutgers University, Newark. Granick Mark M Division of Plastic and Reconstructive Surgery (...) , Department of Surgery, New Jersey Medical School, Rutgers University, Newark. eng Case Reports 2015 12 16 United States Eplasty 101316107 1937-5719 Klinefelter syndrome gynecomastia psychological screening surgery 2015 12 31 6 0 2015 12 31 6 0 2015 12 31 6 1 epublish 26715949 PMC4684628 J Clin Endocrinol Metab. 2013 Jan;98(1):20-30 23118429 Plast Reconstr Surg. 2013 Apr;131(4):890-6 23542261 Aesthetic Plast Surg. 2009 Jul;33(4):514-7 18953597 Plast Reconstr Surg. 1973 Jan;51(1):48-52 4687568 Eplasty

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2015 Eplasty

91. Klinefelter syndrome with low gonadotropin levels (PubMed)

Klinefelter syndrome with low gonadotropin levels Klinefelter syndrome is usually characterised by the presence of a eunuchoid body habitus and testes that are usually small and firm, with low testosterone, and elevated luteinising hormone and follicle-stimulating hormone levels, consistent with hypergonadotropic hypogonadism. Low levels of gonadotropins in karyotypically proven cases are not expected, they are extremely rare occurrences. We report a case of a patient who was diagnosed to have (...) Klinefelter syndrome (47 XXY) with low gonadotropin levels. The rest of his anterior pituitary hormonal profile was normal with no lesions in the pituitary gland on imaging. He was continued on androgen replacement therapy. 2015 BMJ Publishing Group Ltd.

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2015 BMJ case reports

92. Early Morphokinetic Monitoring of Embryos after Intracytoplasmic Sperm Injection with Fresh Ejaculate Sperm in Nonmosaic Klinefelter Syndrome: A Different Presentation (PubMed)

Early Morphokinetic Monitoring of Embryos after Intracytoplasmic Sperm Injection with Fresh Ejaculate Sperm in Nonmosaic Klinefelter Syndrome: A Different Presentation The patient was diagnosed with nonmosaic 47, XXY Klinefelter Syndrome with the AZF deletion absent and SRY+. The nonmosaic 47, XXY karyotype was confirmed on a skin biopsy chromosomal analysis. Using only ejaculate motile sperms, 11 oocytes underwent ICSI and were placed rapidly in a time lapse (Embryoscope ©) with a specific

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2015 Case Reports in Genetics

93. Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment

Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more (...) studies before adding more. Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT02408445 Recruitment Status : Active, not recruiting First Posted : April 3, 2015 Last Update Posted : January 15, 2019 Sponsor

2015 Clinical Trials

94. Hypersexuality, Paraphilic Behaviors, and Gender Dysphoria in Individuals with Klinefelter's Syndrome. (PubMed)

Hypersexuality, Paraphilic Behaviors, and Gender Dysphoria in Individuals with Klinefelter's Syndrome. An increased risk of autistic traits in Klinefelter syndrome (KS) has been reported. In addition, some studies have shown an increased incidence of gender dysphoria (GD) and paraphilia in autism spectrum disorder.The aim of this study was to evaluate the presence of (i) paraphilic fantasies and behaviors; and (ii) GD symptomatology in KS.A sample of 46 KS individuals and 43 healthy male (...) significantly lower total, verbal and performance IQ scores and higher SCL-90 obsession-compulsive symptoms (all P < 0.001). In line with previously reported findings, KS showed higher autistic traits according with both RME and AQ tests (P < 0.001). With respect to sexuality, KS showed a significant higher frequency of voyeuristic fantasies during masturbation (52.2% vs. 25.6%) and higher SAST scores (P = 0.012). A mediation role of obsessive symptoms on the relationship between Klinefelter and SAST

2015 Journal Of Sexual Medicine

95. Association of Parental Origin with Clinical Profile in Klinefelter Syndrome (PubMed)

Association of Parental Origin with Clinical Profile in Klinefelter Syndrome Several genomic imprinting mechanisms have been postulated to report the parent-of-origin in Klinefelter syndrome. It was stated in the literature, parental origin has an effect on behavioral phenotype of Klinefelter individuals, but the association of the same on clinical profile was less reported. The detailed clinical phenotype when studied with the known origin of extra X may possibly explain the imprinting effect (...) that may be helpful to derive diagnostic criteria in the syndrome. In the present study, we investigated the parental-of-origin of extra X chromosome in Klinefelter syndrome probands with an aim to report the association between the phenotype with that of its karyotype and the parental origin of supernumerary X.Seventy two probands that were referred to division of Human Genetics, St.John's Medical College, Bangalore with variable complaints and phenotypic features were diagnosed with informed consent

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2015 Journal of clinical and diagnostic research : JCDR

96. A case of Madelung's disease accompanied by Klinefelter's syndrome (PubMed)

A case of Madelung's disease accompanied by Klinefelter's syndrome Madelung's disease is a rare fat metabolism disorder characterised by benign multiple symmetric, encapsulated lipomatosis. The exact cause of the disease is unknown; it may be associated with chronic alcoholism and mutations in mitochondrial DNA (A8344G), but there have been cases without these factors reported in the literature. A 29-year-old man with a 6-year history of diabetes mellitus was admitted to our hospital for poorly (...) showed no mitochondrial DNA mutation. Metabolic disorders, such as diabetes mellitus, hyperlipidaemia, hyperuricaemia and liver disease, endocrine gland diseases, such as hypothyroidism, and neurological diseases, such as polyneuropathy and cognitive disorders, may accompany Madelung's disease. The present study represents the first reported case of Madelung's disease accompanied by Klinefelter's syndrome.Madelung's disease is a rare fat metabolism disorder characterised by benign multiple symmetric

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2015 Endocrinology, diabetes & metabolism case reports

97. Prepubertal diagnosis of Klinefelter syndrome due to penoscrotal malformations: Case report and review of literature (PubMed)

Prepubertal diagnosis of Klinefelter syndrome due to penoscrotal malformations: Case report and review of literature We report a case of 4 months old infant diagnosed as Klinefelter syndrome associated with perineal hypospadias, severe ventral chordee and complete penoscrotal transposition. A review of previous reported cases was carried out. Penoscrotal malformations at birth are very rare in Klinefelter syndrome. Awareness of the current standard indications of Karyotyping can help early

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2015 Canadian Urological Association Journal

98. Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome. (PubMed)

Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome. To characterize associations among psychosocial well-being, physical phenotype, and sex hormones in a sample of youth with Klinefelter syndrome (KS). We hypothesized that KS physical traits (phenotype) are associated with adverse psychosocial health measures and that testosterone levels are associated with adverse psychosocial health.Forty-three boys with KS (ages 8-18 years) participated in a cross-sectional study (...) . Participants underwent physical examination, hormone analyses, and psychosocial health questionnaires.Using an investigator-developed Klinefelter Phenotype Index Scale, the number of KS physical traits ranged from 1-13 (mean 5.1 ± 1.9). Pubertal boys presented with more KS traits compared with prepubertal boys (5.6 vs 4.2, P = .01). Boys diagnosed prenatally had a milder phenotype compared with those diagnosed postnatally. Gonadotropins were elevated without androgen deficiency in 45%. Psychosocial health

2015 Journal of Pediatrics

99. Rare Case of Monozygotic Twins Diagnosed With Klinefelter Syndrome During Evaluation for Infertility (PubMed)

Rare Case of Monozygotic Twins Diagnosed With Klinefelter Syndrome During Evaluation for Infertility Although neither Klinefelter syndrome nor monozygotic twins are particularly rare (1/667 male births and 3-4/1000 live births, respectively), the occurrence of both in the same pregnancy (ie, identical twins with Klinefelter syndrome) is exceedingly rare and has only been reported three times previously in the literature. This report describes the fourth ever reported case of monozygotic twins (...) with Klinefelter syndrome (who presented to our male fertility clinic with failure to conceive) and sheds interesting light on the reproductive concordance observed with this rare clinical entity. To our knowledge, this is the first reported case of monozygotic twins with Klinefelter syndrome that describes the infertility workup and outcomes of microsurgical testicular sperm extraction.

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2015 Reviews in urology

100. Factors associated with adaptation to Klinefelter syndrome: The experience of adolescents and adults (PubMed)

Factors associated with adaptation to Klinefelter syndrome: The experience of adolescents and adults The purpose of this study was to understand the impact of living with Klinefelter syndrome (XXY) as an adolescent or an adult and to examine the factors that contribute to adaptation.Individuals (n = 310) aged 14-75 years with self-reported XXY were recruited from online support networks to complete a self-administered survey. Perceived consequences, perceived severity, perceived stigma

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2014 Patient education and counseling

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