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Klinefelter Syndrome

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81. Angioimmunoblastic T-Cell Lymphoma in a Patient with Klinefelter Syndrome (Full text)

Angioimmunoblastic T-Cell Lymphoma in a Patient with Klinefelter Syndrome BACKGROUND Although patients with Klinefelter syndrome have elevated risk and incidence rates for several solid cancers, reports on the incidence of hematological malignancies have been equivocal. CASE REPORT We report a patient diagnosed with angioimmunoblastic T-cell lymphoma in whom Klinefelter syndrome was newly detected. Moreover, we discuss the development of a variety of lymphomas in patients with Klinefelter (...) syndrome. CONCLUSIONS This is the first case describing angioimmunoblastic T-cell lymphoma in a patient with Klinefelter syndrome who was treated with chemotherapy.

2016 The American journal of case reports PubMed abstract

82. A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome (Full text)

A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome 47 XXY/46 XX mosaicism with characteristics suggesting Klinefelter syndrome is very rare and at present, only seven cases have been reported in the literature.We report an Indian boy diagnosed as variant of Klinefelter syndrome with 47 XXY/46 XX mosaicism at age 12 years. He was noted to have right cryptorchidism and chordae at birth, but did not have surgery for these until age 3 years. During surgery, the right gonad

2016 International journal of pediatric endocrinology PubMed abstract

83. Advances in the interdisciplinary care of children with Klinefelter syndrome (Full text)

Genetic Counseling Humans Klinefelter Syndrome diagnosis epidemiology genetics Language Development Disorders etiology Male Mosaicism Phenotype Polymorphism, Genetic Puberty Speech Disorders etiology Testis abnormalities Truth Disclosure X Chromosome Inactivation 47,XXY Klinefelter syndrome Sex chromosome aneuploidy 2016 7 19 6 0 2016 7 19 6 0 2018 1 26 6 0 ppublish 27426894 S0065-3101(16)30020-2 10.1016/j.yapd.2016.04.020 PMC5340500 NIHMS776752 J Endocrinol Invest. 2010 Dec;33(11):789-93 20332707 (...) Advances in the interdisciplinary care of children with Klinefelter syndrome 27426894 2018 01 25 2019 01 09 1878-1926 63 1 2016 08 Advances in pediatrics Adv Pediatr Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome. 15-46 10.1016/j.yapd.2016.04.020 S0065-3101(16)30020-2 Davis Shanlee S Department of Pediatrics, University of Colorado School of Medicine, 13123 East 16th Avenue, Aurora, CO 80045, USA; Department of Endocrinology, Children's Hospital Colorado

2016 Advances in pediatrics PubMed abstract

84. Klinefelter Syndrome with Poor Risk Extragonadal Germ Cell Tumor (Full text)

Klinefelter Syndrome with Poor Risk Extragonadal Germ Cell Tumor Germ cell tumors are the most common malignancy in men aged 15-35 years old, with a small percentage presenting in an extragonadal location. These tumors are seldom identified in the gastrointestinal tract. There is increased risk of extragonadal germ cell tumors (EGCT) in men with Klinefelter syndrome (KS). We report a rare case of a 37-year-old male with KS and EGCT discovered in the duodenum and pelvis. After treatment (...) with Bleomycin-Etoposide-Cisplatin (BEP), he developed growing teratoma syndrome (GTS) and myelodysplasia. Despite surgical excision of the pelvic growing teratoma, he unfortunately died secondary to complications of severe bone marrow suppression.

2016 Urology case reports PubMed abstract

85. Cardiometabolic Profiles of Boys With Klinefelter Syndrome

Study Details Study Description Go to Brief Summary: This study plans to learn more about how to measure the way the the body's energy system works in boys with Klinefelter syndrome, including the heart, lungs, muscles, and liver. This is important to know so that investigators understand how hormones and an extra X chromosome relate to diseases such as diabetes, extra weight gain, heart disease and liver diseases. Condition or disease Intervention/treatment Klinefelter Syndrome 47,XXY Sex (...) : January 2019 Individual Participant Data (IPD) Sharing Statement: Plan to Share IPD: No Keywords provided by University of Colorado, Denver: Klinefelter syndrome XXY Sex chromosome aneuploidy sex chromosome variation hypogonadism cardiometabolic body composition exercise capacity Additional relevant MeSH terms: Layout table for MeSH terms Syndrome Aneuploidy Klinefelter Syndrome Disease Pathologic Processes Chromosome Aberrations Sex Chromosome Disorders of Sex Development Disorders of Sex Development

2016 Clinical Trials

86. Human Chorionic Gonadotropin Stimulation Effects on Steroidogenesis in Men With Klinefelter Syndrome

followed by a single intramuscular injection of hCG of 5000 IU. Further five visits were performed each of five following consecutive days after the hCG injection. A blood sample was taken at each visit after an overnight fast Condition or disease Intervention/treatment Phase Steroidogenesis Klinefelter Syndrome Human Chorionic Gonadotropin (hCG) Stimulation Drug: human chorionic gonadotropin Not Applicable Detailed Description: Blood samples were centrifuged at 2955 g for 15 min. Sera were transferred (...) table for additonal information Responsible Party: Manuela Simoni, Ordinary Professor, Azienda USL Modena ClinicalTrials.gov Identifier: Other Study ID Numbers: Klinefelter & hCG First Posted: June 2, 2016 Last Update Posted: June 7, 2016 Last Verified: June 2016 Individual Participant Data (IPD) Sharing Statement: Plan to Share IPD: Undecided Additional relevant MeSH terms: Layout table for MeSH terms Syndrome Klinefelter Syndrome Disease Pathologic Processes Sex Chromosome Disorders of Sex

2016 Clinical Trials

87. Leydig cell tumor found incidentally during microscopic testicular sperm extraction in patient with mosaic Klinefelter syndrome: case report. (Full text)

Leydig cell tumor found incidentally during microscopic testicular sperm extraction in patient with mosaic Klinefelter syndrome: case report. To report the finding and management of a case of Leydig cell tumor discovered during the infertility evaluation of a patient with mosaic Klinefelter syndrome.Single case report.Academic hospital.Patient seeking assistance with fertility after a diagnosis of mosaic Klinefelter syndrome.The patient underwent microscopic testicular sperm extraction (mTESE (...) ) for sperm identification after the diagnosis of mosaic Klinefelter syndrome. Abnormal testicular tissue was identified during mTESE and histologically confirmed to be a Leydig cell tumor. The patient was informed of this incidental discovery and later underwent orchiectomy for conservative oncologic control.Histologic testicular assessment.Patient was found to have no viable sperm on mTESE, but achieved oncologic control with bilateral orchiectomy.The presented case emphasizes the importance

2016 Fertility and Sterility PubMed abstract

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

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 (...) of a clinical interview based on Diagnostic and Statistical Manual of Mental Disorders, 5th Edition criteria. Finally, all individuals included were assessed by Wechsler Adult Intelligence Scale-Revised to evaluate intelligence quotient (IQ). Data from a subsample of a previous published series of male to female GD individuals, with the battery of psychological measures useful to provide a psychopathological explanation of GD in KS population available, was also considered.When compared with HC, KS reported

2015 Journal Of Sexual Medicine

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

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

2015 BMJ case reports PubMed abstract

90. Vitrectomy for Proliferative Diabetic Retinopathy Associated with Klinefelter Syndrome (Full text)

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

2015 Case reports in ophthalmology PubMed abstract

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

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 PubMed abstract

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

Klinefelter syndrome, but we do not know if this difference is present at birth or develops over time. The Investigators will learn if body composition and motor skills are improved with testosterone treatment in infants with Klinefelter syndrome. Condition or disease Intervention/treatment Phase Klinefelter Syndrome Drug: testosterone cypionate 200mg/ml Phase 4 Study Design Go to Layout table for study information Study Type : Interventional (Clinical Trial) Actual Enrollment : 20 participants Allocation (...) relevant MeSH terms: Layout table for MeSH terms Syndrome Klinefelter Syndrome Disease Pathologic Processes Sex Chromosome Disorders of Sex Development Disorders of Sex Development Urogenital Abnormalities Sex Chromosome Disorders Chromosome Disorders Congenital Abnormalities Genetic Diseases, Inborn Gonadal Disorders Endocrine System Diseases Hypogonadism Testosterone Testosterone undecanoate Testosterone enanthate Testosterone 17 beta-cypionate Methyltestosterone Androgens Hormones Hormones, Hormone

2015 Clinical Trials

93. Fertility Assessment in Patients With Klinefelter Syndrome

terms Syndrome Klinefelter Syndrome Disease Pathologic Processes Sex Chromosome Disorders of Sex Development Disorders of Sex Development Urogenital Abnormalities Sex Chromosome Disorders Chromosome Disorders Congenital Abnormalities Genetic Diseases, Inborn Gonadal Disorders Endocrine System Diseases Hypogonadism (...) . This study was designed in order to answer the following questions: Is it possible to retrieve sperm for cryopreservation from semen samples of adolescent and young adult Klinefelter patients? Does the presence of sperm correlate with the physical and/or endocrine measures that are assessed during routine clinical evaluations of pubertal development in the KS patient population? If sperm retrieval is possible, what is the optimal age at which sperm retrieval should be attempted? Condition or disease

2015 Clinical Trials

94. Klinefelter syndrome with low gonadotropin levels (Full text)

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.

2015 BMJ case reports PubMed abstract

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

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

2015 Case Reports in Genetics PubMed abstract

96. Gynecomastia and Klinefelter Syndrome (Full text)

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

2015 Eplasty PubMed abstract

97. Thrombosis and Neurocognition in Klinefelter Syndrome

status and any effects of long- or short-term testosterone treatment on the above mentioned parameters are investigated. Condition or disease Klinefelter Syndrome Thrombosis Detailed Description: Klinefelter syndrome (KS) affects approximately 1 in every 600 males, but remains severely underdiagnosed. Men with KS are more prone to a wide range of diseases including thrombotic disorders. Also, neurocognitive function is impaired in KS. The background for the increased thrombosis proneness (...) Identifier: Other Study ID Numbers: 2015_KS_TESTOSTERONE First Posted: August 18, 2015 Last Update Posted: January 23, 2018 Last Verified: January 2018 Keywords provided by University of Aarhus: Testosterone Neurocognition Additional relevant MeSH terms: Layout table for MeSH terms Syndrome Thrombosis Klinefelter Syndrome Disease Pathologic Processes Embolism and Thrombosis Vascular Diseases Cardiovascular Diseases Sex Chromosome Disorders of Sex Development Disorders of Sex Development Urogenital

2015 Clinical Trials

98. Prepubertal diagnosis of Klinefelter syndrome due to penoscrotal malformations: Case report and review of literature (Full text)

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

2015 Canadian Urological Association Journal PubMed abstract

99. Association of Parental Origin with Clinical Profile in Klinefelter Syndrome (Full text)

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

2015 Journal of clinical and diagnostic research : JCDR PubMed abstract

100. Rare Case of Monozygotic Twins Diagnosed With Klinefelter Syndrome During Evaluation for Infertility (Full text)

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.

2015 Reviews in urology PubMed abstract

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