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Klinefelter Syndrome

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

Human Chorionic Gonadotropin Stimulation Effects on Steroidogenesis in Men With Klinefelter Syndrome Human Chorionic Gonadotropin Stimulation Effects on Steroidogenesis in Men 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. Human Chorionic Gonadotropin Stimulation Effects on Steroidogenesis in Men 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: NCT02788136 Recruitment Status : Completed First Posted : June 2, 2016 Last Update Posted : June 7, 2016

2016 Clinical Trials

62. MANAGEMENT OF ENDOCRINE DISEASE: Klinefelter syndrome, cardiovascular system and thromboembolic disease. Review of literature and clinical perspectives. (PubMed)

MANAGEMENT OF ENDOCRINE DISEASE: Klinefelter syndrome, cardiovascular system and thromboembolic disease. Review of literature and clinical perspectives. Klinefelter syndrome (KS) is the most frequently occurring sex chromosomal aberration in males, with an incidence of about 1 in 500-700 newborns. Data acquired from large registry-based studies revealed an increase in mortality rates among KS patients when compared with mortality rates among the general population. Among all causes of death

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2016 European Journal of Endocrinology

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

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

64. The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults (PubMed)

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

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2016 Journal of Genetic Counseling

65. Premature pubarche in a child with abnormal 3β‐hydroxysteroid dehydrogenase function and Klinefelter syndrome: the intriguing relationship between androgen deficiency and excess (PubMed)

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.

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2016 Clinical Case Reports

66. Obesity and Hyperglycemia in Korean Men with Klinefelter Syndrome: The Korean Endocrine Society Registry (PubMed)

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

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2016 Endocrinology and Metabolism

67. Klinefelter Syndrome and Metabolic Disorder (PubMed)

Klinefelter Syndrome and Metabolic Disorder 28029025 2018 11 13 2093-596X 31 4 2016 Dec Endocrinology and metabolism (Seoul, Korea) Endocrinol Metab (Seoul) Klinefelter Syndrome and Metabolic Disorder. 535-536 10.3803/EnM.2016.31.4.535 Bae Ji Cheol JC http://orcid.org/0000-0002-4763-5797 Division of Endocrinology and Metabolism, Department of Medicine, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea. drkuri10@gmail.com. eng Editorial Korea (South

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2016 Endocrinology and Metabolism

68. Corrigendum to “Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile” [NeuroImage:Clin 4 (2014) 1–9] (PubMed)

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

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2016 NeuroImage : Clinical

69. Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation (PubMed)

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

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2016 NeuroImage : Clinical

70. A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome (PubMed)

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

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2016 International journal of pediatric endocrinology

71. A Rare Case Report of Inguinal Hernia with Persistent Mullerian Duct and Klinefelter Syndrome (PubMed)

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

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2016 Journal of clinical and diagnostic research : JCDR

72. High Risk of Venous Thromboembolism in Klinefelter Syndrome (PubMed)

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

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

73. Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome (PubMed)

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

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2016 International journal of endocrinology

74. Effects of Oxandrolone on Cardiometabolic Health in Boys with Klinefelter syndrome: A Randomized Controlled Trial. (PubMed)

Effects of Oxandrolone on Cardiometabolic Health in Boys with Klinefelter syndrome: A Randomized Controlled Trial. Klinefelter syndrome (KS) is a common condition in males, resulting in androgen deficiency and cardiometabolic diseases. These interrelated conditions may be present in prepubertal boys with KS.To determine whether supplemental low-dose androgen has a beneficial effect on body composition in prepubertal boys with KS.We conducted a secondary analysis of a randomized, double-blind

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2016 Journal of Clinical Endocrinology and Metabolism Controlled trial quality: predicted high

75. Klinefelter syndrome: fertility considerations and gaps in knowledge (PubMed)

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

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2016 Translational pediatrics

76. Sperm retrieval in adolescent males with Klinefelter syndrome: medical and ethical issues (PubMed)

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

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2016 Translational pediatrics

77. A Klinefelter boy with congenital adrenal hyperplasia: too much or too little androgens? (PubMed)

A Klinefelter boy with congenital adrenal hyperplasia: too much or too little androgens? The simultaneous occurrence of Klinefelter Syndrome (KS) and Congenital Adrenal Hyperplasia (CAH) is an exceptional event: there are just three case reports (two children and a 51 years old man) describing males affected by both KS and 21OHD (21-hydroxylase deficiency) CAH, the first causing androgen deficiency, the latter leading to androgen excess.We report the 4th case of association of KS and CAH (...) in a young man with CAH with good androgen control and with normal secondary sex characteristics, whose Klinefelter syndrome was diagnosed because of reduced testicular volume. He was the first reported case of association of KS and CAH who started androgen replacement therapy in the pubertal age and whose pubertal development was described and followed up step by step.In a boy with CAH and small testicular volume, it's important to consider that hypogonadism may be masked by the adrenal androgens excess

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2018 Italian journal of pediatrics

78. Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells (PubMed)

Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells The most common human sex chromosomal disorder is Klinefelter syndrome (KS; 47,XXY). Adult patients with KS display a diverse phenotype but are nearly always infertile, due to testicular degeneration at puberty. To identify mechanisms causing the selective destruction of the seminiferous epithelium, we performed RNA-sequencing of 24 fixed (...) paraffin-embedded testicular tissue samples. Analysis of informative transcriptomes revealed 235 differentially expressed transcripts (DETs) in the adult KS testis showing enrichment of long non-coding RNAs, but surprisingly not of X-chromosomal transcripts. Comparison to 46,XY samples with complete spermatogenesis and Sertoli cell-only-syndrome allowed prediction of the cellular origin of 71 of the DETs. DACH2 and FAM9A were validated by immunohistochemistry and found to mark apparently

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2018 Cell death & disease

79. Skeletal Health of Klinefelter Patients

compared the bone health of KS patients who were actively monitored in our clinic by dual-energy X-ray absorptiometry (DXA) with that of a control group of healthy volunteers. Condition or disease Intervention/treatment Phase Osteoporosis Diagnostic Test: dual-energy X-ray absorptiometry Not Applicable Detailed Description: Klinefelter syndrome (KS) is the most common chromosome number abnormality of men, occurring in 1/500 to 1/1000 live births . It was first described in 1942 as an endocrine disorder (...) -regulated Drug Product: No Studies a U.S. FDA-regulated Device Product: No Keywords provided by Abdullah Demirtas, TC Erciyes University: Klinefelter Osteoporosis dual-energy X-ray absorptiometry Additional relevant MeSH terms: Layout table for MeSH terms Osteoporosis Klinefelter Syndrome Bone Diseases, Metabolic Bone Diseases Musculoskeletal Diseases Metabolic Diseases Sex Chromosome Disorders of Sex Development Disorders of Sex Development Urogenital Abnormalities Sex Chromosome Disorders Chromosome

2018 Clinical Trials

80. 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

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