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Klinefelter Syndrome

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61. Combination of Klinefelter Syndrome and Acromegaly: A Rare Case Report. Full Text available with Trip Pro

Combination of Klinefelter Syndrome and Acromegaly: A Rare Case Report. Klinefelter syndrome (KS) is the most common chromosomal aneuploidy in male population, which demonstrates an unusual association with acromegaly. We herein present a rare case involving the confirmation of KS 2 years after surgical treatment for acromegaly.A 27-year-old man presented with an acromegalic appearance. Endocrinological examination revealed a high growth hormone (GH) concentration, low testosterone (...) suppressed by the GH glucose suppression test. In this consideration, he was referred for postoperative somatostatin analogue treatment to control GH hypersecretion.The misdiagnosis or delayed diagnosis of KS is mainly because of substantial variations in clinical presentation and insufficient professional awareness of the syndrome itself. As the simultaneous occurrence of KS and acromegaly is rare, and the association between them remains unclear, we suggest that complete pituitary hormonal screening

2016 Medicine

62. Corrigendum to “Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile” [NeuroImage:Clin 4 (2014) 1–9] Full Text available with Trip Pro

Corrigendum to “Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile” [NeuroImage:Clin 4 (2014) 1–9] 26909328 2016 06 23 2018 09 21 2213-1582 11 2016 NeuroImage. Clinical Neuroimage Clin Corrigendum to "Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile" [NeuroImage:Clin 4 (2014) 1-9]. 52 S2213-1582(16)00002-4 10.1016/j.nicl.2016.01.005 Skakkebæk Anne A Department of Endocrinology (...) Genetics, Vejle Hospital, Sygehus Lillebaelt, 7100 Vejle, Denmark. Jensen Jens Søndergaard JS The Research Clinic for Functional Disorders and Psychosomatics, Aarhus University Hospital, 8200 Aarhus N, Denmark. Fedder Jens J Fertility Clinic, Department of Gynecology and Obstetrics, Odense University Hospital, 5000 Odense, Denmark. Laurberg Peter P Department of Endocrinology, Aalborg University Hospital, 9000 Aalborg, Denmark. Hertz Jens Michael JM Department of Clinical Genetics, Odense University

2016 NeuroImage : Clinical

63. A Rare Case Report of Inguinal Hernia with Persistent Mullerian Duct and Klinefelter Syndrome Full Text available with Trip Pro

A Rare Case Report of Inguinal Hernia with Persistent Mullerian Duct and Klinefelter Syndrome Inguinal hernia in male is a common problem but having female reproductive organs in hernial sac is rare. It occur because of failure of mullerian duct to regress in a male fetus during embryonic development, result in a syndrome known as Persistent Mullerian Duct Syndrome (PMDS), which is a rare entity of male pseudohermaphroditism. We hereby present a case of 21-year-old male patient reported (...) with complains of cryptorchidism and inguinal hernia. Generally diagnosis of PMDS was established during investigation like ultrasonography, MRI for localization of undescended testis and during surgical exploration for inguinal hernia or cryptorchidism. Our patient was operated by bilateral inguinal incision; hernial sac contained adult size uterus fallopian tube and upper 2/3(rd) of vagina. On karyotyping it was found that he was a case of klinefelter syndrome also. Association of PMDS with klinefelter

2016 Journal of clinical and diagnostic research : JCDR

64. High Risk of Venous Thromboembolism in Klinefelter Syndrome Full Text available with Trip Pro

High Risk of Venous Thromboembolism in Klinefelter Syndrome Klinefelter syndrome (KS) is the most common sex chromosome disorder. The genetic background is the extra X chromosome. Venous thromboembolism (VTE) has been observed among KS patients. The aim of the present study was to examine whether KS is associated with VTE.We followed up all hospital in- and outpatients (N=1085) in Sweden with a diagnosis of KS between January 1, 1969, and December 31, 2010, for diagnosis of VTE. The reference

2016 Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease

65. Gonadal Function is Associated with Cardiometabolic Health in Prepubertal Boys with Klinefelter Syndrome Full Text available with Trip Pro

Gonadal Function is Associated with Cardiometabolic Health in Prepubertal Boys with Klinefelter Syndrome The most common sex chromosome aneuploidy, Klinefelter syndrome (KS), is associated with primary gonadal failure and increased morbidity and mortality from cardiometabolic disorders in adulthood. Children with KS also have a high prevalence of metabolic syndrome (MetS) features. To assess the relationship of gonadal and cardiometabolic function in children with KS, we evaluated serum (...) hormones [gonadotropins, inhibin B (INHB), anti-mullerian hormone (AMH), total testosterone (TT)], and features of MetS (waist circumference, fasting lipid panel, fasting blood glucose (FBG), and blood pressure) in 93 pre-pubertal boys with KS age 4-12 years (mean 7.7 ± 2.5 years). The cohort was grouped by age and tanner stage, and biomarkers were compared to normal ranges. A total of 80% of this pre-pubertal cohort had ≥1 feature of metabolic syndrome (MetS) and 11% had ≥3 features of MetS. Risk

2016 Andrology

66. Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism Full Text available with Trip Pro

Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism Klinefelter Syndrome (KS) is characterized by an extreme heterogeneity in its clinical and genetic presentation. The relationship between clinical phenotype and genetic background has been partially disclosed; nevertheless, physicians are aware that several aspects concerning this issue are far to be fully understood. By improving our knowledge on the role of some genetic aspects as well as on the KS, patients (...) ' interindividual differences in terms of health status will result in a better management of this chromosomal disease. The aim of this review is to provide an update on both genetic and clinical phenotype and their interrelationships.

2016 Journal of endocrinological investigation

67. Adolescent Klinefelter syndrome: is there an advantage to testis tissue harvesting or not? Full Text available with Trip Pro

Adolescent Klinefelter syndrome: is there an advantage to testis tissue harvesting or not? It is currently unclear whether an adolescent with 47,XXY Klinefelter syndrome will be better off having testicular sperm extraction (TESE) performed in an effort to 'preserve fertility' for the future or, alternatively, should be advised to simply wait until adulthood when he and his partner are ready to begin a family. This report will provide data suggesting that there is no obvious 'preservation

2016 F1000Research

68. Klinefelter syndrome: fertility considerations and gaps in knowledge Full Text available with Trip Pro

Klinefelter syndrome: fertility considerations and gaps in knowledge 27709101 2018 11 13 2224-4344 5 3 2016 Jul Translational pediatrics Transl Pediatr Klinefelter syndrome: fertility considerations and gaps in knowledge. 183-184 Nahata Leena L Division of Endocrinology, Nationwide Children's Hospital, 700 Children's Dr, Columbus, USA. Yu Richard N RN Department of Urology, Boston Children's Hospital, Boston, MA, USA. Cohen Laurie E LE Division of Endocrinology, Boston Children's Hospital

2016 Translational pediatrics

69. The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults Full Text available with Trip Pro

The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults Klinefelter syndrome (XXY) is a common yet significantly underdiagnosed condition with considerable medical, psychological and social implications. Many health care providers lack familiarity with XXY, resulting in medical management challenges and a limited understanding of the personal impact of the condition. Genetic counselors benefit from understanding the challenges adolescents and men

2016 Journal of Genetic Counseling

70. Early onset of puberty in an obese boy with Klinefelter syndrome Full Text available with Trip Pro

Early onset of puberty in an obese boy with Klinefelter syndrome Klinefelter syndrome (KS) is one of the most common disease entities characterized by X-chromosomal aberration causing the primary hypogonadism in adult men. Patients with KS seem to be typically characterized by tall, slender bodies with delayed puberty and hypergonadotropic hypogonadism. However, it has been known that they have a broad spectrum of phenotype ranging from almost normal external appearances to typical phenotype

2016 Annals of pediatric endocrinology & metabolism

71. Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation Full Text available with Trip Pro

Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation Klinefelter syndrome (47, XXY) (KS) is a genetic syndrome characterized by the presence of an extra X chromosome and low level of testosterone, resulting in a number of neurocognitive abnormalities, yet little is known about brain function. This study investigated the fMRI-BOLD response from KS relative to a group of Controls to basic motor, perceptual

2016 NeuroImage : Clinical

72. Distinctive pattern of expression of spermatogenic molecular markers in testes of azoospermic men with non-mosaic Klinefelter syndrome Full Text available with Trip Pro

Distinctive pattern of expression of spermatogenic molecular markers in testes of azoospermic men with non-mosaic Klinefelter syndrome Mature sperm cells can be found in testicular specimens extracted from azoospermic men with non-mosaic Klinefelter syndrome (KS). The present study evaluates the expression of various known molecular markers of spermatogenesis in a population of men with KS and assesses the ability of those markers to predict spermatogenesis.Two groups of men with non (...) -obstructive azoospermia who underwent testicular sperm-retrieval procedures were included in the study: 31 had non-mosaic KS (KS group) and 91 had normal karyotype (NK group). Each group was subdivided into mixed atrophy (containing some mature sperm cells) or Sertoli cell only syndrome according to testicular histology and cytology observations. Semi-quantitative histological morphometric analysis (interstitial hyperplasia and hyalinization, tubules with cells and abnormal thickness of the basement

2016 Journal of assisted reproduction and genetics

73. Sperm retrieval in adolescent males with Klinefelter syndrome: medical and ethical issues Full Text available with Trip Pro

Sperm retrieval in adolescent males with Klinefelter syndrome: medical and ethical issues 27186531 2016 05 17 2018 11 13 2224-4344 5 2 2016 Apr Translational pediatrics Transl Pediatr Sperm retrieval in adolescent males with Klinefelter syndrome: medical and ethical issues. 104-6 10.21037/tp.2016.04.05 Rogol Alan D AD 1 Department of Pediatrics, University of Virginia School of Medicine, Charlottesville, Virginia, USA ; 2 Department of Growth and Reproduction, Rigshospitalet, Copenhagen

2016 Translational pediatrics

74. Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome Full Text available with Trip Pro

Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome Objective. Klinefelter syndrome (KS) has long-term consequences on bone health. However, studies regarding bone status and metabolism during childhood and adolescence are very rare. Patients. This cross-sectional study involved 40 (mean age: 13.7 ± 3.8 years) KS children and adolescents and 80 age-matched healthy subjects. For both patient and control groups, we evaluated serum levels of ionised and total calcium (...) to the controls. However, KS patients presented significantly higher PTH (p < 0.0001) and significantly lower 25(OH)D (p < 0.0001), osteocalcin (p < 0.05), and bone alkaline phosphatase levels (p < 0.005). Interestingly, these metabolic bone disorders were already present in the prepubertal subjects. Conclusions. KS children and adolescents exhibited impaired bone mineral status and metabolism with higher PTH levels and a significant reduction of 25-OH-D and bone formation markers. Interestingly

2016 International journal of endocrinology

75. Premature pubarche in a child with abnormal 3β‐hydroxysteroid dehydrogenase function and Klinefelter syndrome: the intriguing relationship between androgen deficiency and excess Full Text available with Trip Pro

Premature pubarche in a child with abnormal 3β‐hydroxysteroid dehydrogenase function and Klinefelter syndrome: the intriguing relationship between androgen deficiency and excess Disorders of androgen excess may coexist with disorders of androgen deficiency, such as Klinefelter syndrome, and can create diagnostic and therapeutic challenges.

2016 Clinical Case Reports

76. Obesity and Hyperglycemia in Korean Men with Klinefelter Syndrome: The Korean Endocrine Society Registry Full Text available with Trip Pro

Obesity and Hyperglycemia in Korean Men with Klinefelter Syndrome: The Korean Endocrine Society Registry The aim of this study was to investigate the prevalence of obesity in Korean men with Klinefelter syndrome (KS) and the associated risk factors for obesity and hyperglycemia.Data were collected retrospectively from medical records from 11 university hospitals in Korea between 1994 and 2014. Subjects aged ≥18 years with newly diagnosed KS were enrolled. The following parameters were recorded

2016 Endocrinology and Metabolism

77. Angioimmunoblastic T-Cell Lymphoma in a Patient with Klinefelter Syndrome Full Text available with Trip Pro

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

78. A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome Full Text available with Trip Pro

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

79. Advances in the interdisciplinary care of children with Klinefelter syndrome Full Text available with Trip Pro

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

80. Klinefelter Syndrome with Poor Risk Extragonadal Germ Cell Tumor Full Text available with Trip Pro

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

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