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Klinefelter Syndrome

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121. Cardiovascular abnormalities in Klinefelter syndrome. (Abstract)

Cardiovascular abnormalities in Klinefelter syndrome. Several epidemiological studies have demonstrated an increased mortality from cardiovascular causes in patients with Klinefelter Syndrome (KS). Little information is available about the nature of the underlying cardiovascular abnormalities. Aim of the study was to investigate exercise performance, left ventricular architecture and function, vascular reactivity, and carotid intima-media thickness in a group of patients with KS.Sixty-nine (...) patients with KS and 48 age-matched controls participated in our population-controlled study. Forty-eight Klinefelter subjects were on testosterone treatment at the time of the investigation while 21 were naive and underwent a complete Doppler echocardiographic examination, a cardiopulmonary exercise test as well as a vascular study including measures of carotid intima-media thickness and endothelial function with flow-mediated dilation of the brachial artery. Patients with KS on testosterone therapy

2013 International journal of cardiology

122. Fertility Preservation in Cases of Klinefelter Syndrome.

if the azoospermia is confirmed on semen analyses. Condition or disease Intervention/treatment Phase Klinefelter Syndrome Procedure: Seminal analyses and testicular biopsy Not Applicable Study Design Go to Layout table for study information Study Type : Interventional (Clinical Trial) Estimated Enrollment : 120 participants Allocation: Non-Randomized Intervention Model: Parallel Assignment Masking: None (Open Label) Primary Purpose: Prevention Official Title: Fertility Preservation in Cases of Spermatogenesis (...) 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

2013 Clinical Trials

123. Comparison of Sperm Retrieval and Intracytoplasmic Sperm Injection Outcome in Patients With and Without Klinefelter Syndrome. (Abstract)

Comparison of Sperm Retrieval and Intracytoplasmic Sperm Injection Outcome in Patients With and Without Klinefelter Syndrome. To evaluate microsurgical testicular sperm extraction (micro-TESE) and intracytoplasmic sperm injection (ICSI) treatment in patients with non-mosaic Klinefelter syndrome (KS).We retrospectively evaluated the micro-TESE/ICSI performance in 134 patients with classic KS and 537 men with nonobstructive azoospermia (NOA) and normal karyotype referred to Royan Institute

2013 Urology

124. A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis. Full Text available with Trip Pro

A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis. Klinefelter syndrome (KS) is a common genetic condition that is currently under-diagnosed. The phenotype is broad, with physical, medical and psychosocial features ranging from mild to severe. When a child is diagnosed with KS, the parents may spend months to years searching for a diagnosis. This study used a qualitative methods approach

2013 European Journal of Human Genetics

125. Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated. Full Text available with Trip Pro

Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated. Klinefelter syndrome (KS) with the karyotype 47,XXY is one of the commonest types of congenital chromosomal disorder in males, with an incidence of 0.1% to 0.2% of newborn male infants. It causes hypogonadism and infertility. Until now, however, only about one-quarter of all persons with KS received the diagnosis during their lifetimes.Selective review of the literature.KS is caused by aneuploidy (...) syndrome, type 2 diabetes, and epilepsy. The most important therapeutic measure is testosterone supplementation, which should be initiated if the testosterone concentration drops below 12 nmol/L and should be given as directed in the guidelines for the treatment of hypogonadism. This recommendation is made even though there have not been any randomized controlled trials documenting the efficacy of testosterone therapy in adolescents or young adults. In some cases, viable sperm can be obtained from

2013 Deutsches Arzteblatt international

126. XYY syndrome, and XYY-XXYY mosaicism also showing features of Klinefelter's syndrome. Full Text available with Trip Pro

XYY syndrome, and XYY-XXYY mosaicism also showing features of Klinefelter's syndrome. 5801462 1969 09 30 2018 11 13 0022-2593 6 2 1969 Jun Journal of medical genetics J. Med. Genet. XYY syndrome, and XYY-XXYY mosaicism also showing features of Klinefelter's syndrome. 159-65 Spencer D A DA Eyles J W JW Mason M K MK eng Journal Article England J Med Genet 2985087R 0022-2593 IM Adult Antisocial Personality Disorder Body Height Cheek cytology Humans Intellectual Disability genetics Jaw (...) Abnormalities genetics Karyotyping Klinefelter Syndrome Male Mandible abnormalities Mosaicism Sex Chromosome Aberrations 1969 6 1 1969 6 1 0 1 1969 6 1 0 0 ppublish 5801462 PMC1468843 Nature. 1965 Dec 25;208(5017):1351-2 5870205 Nature. 1966 Feb 5;209(5023):641-2 5921206 Lancet. 1961 Aug 26;2(7200):488-9 13746118 Exp Cell Res. 1960 Sep;20:613-6 13772379 Ann Hum Genet. 1961 Oct;25:145-51 13889991 JAMA. 1963 Apr 20;184:179-82 14015109 Am J Hum Genet. 1964 Sep;16:284-91 14204778 Ann Med Nancy. 1964 Aug-Sep;42

1969 Journal of Medical Genetics

127. A myotonic syndrome associated with Klinefelter's syndrome. Full Text available with Trip Pro

A myotonic syndrome associated with Klinefelter's syndrome. 6082911 1968 04 20 2018 11 13 0022-2593 4 4 1967 Dec Journal of medical genetics J. Med. Genet. A myotonic syndrome associated with Klinefelter's syndrome. 299-301 Woollacott S S Pearce J J eng Case Reports Journal Article England J Med Genet 2985087R 0022-2593 IM Adult Humans Klinefelter Syndrome complications Male Myotonia complications diagnosis genetics Myotonia Congenita diagnosis Myotonic Dystrophy diagnosis 1967 12 1 1967 12 1 0

1967 Journal of Medical Genetics

128. Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review. Full Text available with Trip Pro

Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review. Klinefelter syndrome, 47,XXY (KS), is the most frequent sex chromosome aberration in males, affecting 1 in 660 newborn boys. The syndrome is characterized by testicular destruction with extensive fibrosis and hyalinization of the seminiferous tubules resulting in small testes, hypergonadotropic hypogonadism, and azoospermia in the majority of cases. Until recently, infertility (...) was considered an untreatable condition in KS. However, with the development of new advanced assisted reproductive techniques such as testicular sperm extraction (TESE) combined with ICSI it seems that KS patients should no longer be labelled as infertile. Especially, microdissection (micro)-TESE has proved to be an advantageous procedure for the identification of testicular spermatozoa in KS. The aim of this review was to describe current knowledge on the testicular changes occurring in KS, the associated

1 European Journal of Endocrinology

129. Klinefelter Syndrome

Klinefelter Syndrome Klinefelter Syndrome Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Klinefelter Syndrome Klinefelter Syndrome (...) to testosterone ratio VI. Associated Conditions Mild Motor function delay Language comprehension problems Speech may also be affected s Dyslexia Social maladjustment Mental illness dysfunction disease (20x risk of healthy men) VII. Management: General Complete neurodevelopment evaluation at diagnosis Indicated if diagnosis in childhood surveillance VIII. Management: Testosterone Replacement after age 11 Start Long acting Testosterone 25-50 mg IM q3-4 weeks Increase Testosterone dose by 50 mg q6-9 months Goal

2015 FP Notebook

130. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting Full Text available with Trip Pro

% 45,X mosaicism (⨁⨁◯◯). R 1.3. We suggest that the new general surveillance management guideline apply to TS patients with any karyotype (⨁⨁◯◯). 1.1.1. Definition Turner syndrome is a chromosomal disorder that affects phenotypic females who have one intact X chromosome and complete or partial absence of the second sex chromosome in association with one or more clinical manifestations ( ). Although the traditional definition of TS implies the presence of physical features such as the characteristic (...) facial appearance, with neck webbing and lymphedema ( , ), we suggest that the clinical manifestations of TS should be broadened to include other features, such as linear growth failure, ovarian insufficiency (pubertal delay), early sensorineural hearing loss, distinctive congenital cardiovascular, skeletal, digital and renal anomalies, a particular neurodevelopmental profile, and a constellation of other disorders that are more common in TS, including hypothyroidism and celiac disease ( , , ). Table

2016 European Society of Human Reproduction and Embryology

131. Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome

with 47,XXY (also called Klinefelter syndrome). This study will also evaluate whether certain genetic factors of the X chromosome affect the psychological or motor features of XXY/Klinefelter syndrome. Condition or disease Intervention/treatment Phase Klinefelter Syndrome XXY Syndrome Drug: Testosterone gel 1% Drug: Placebo gel Not Applicable Detailed Description: Klinefelter syndrome (47,XXY) is the most common chromosomal abnormality in humans and occurs in approximately 1 in 650 males. Testosterone (...) Identifier: Other Study ID Numbers: 11-0874 First Posted: April 26, 2012 Last Update Posted: December 15, 2017 Last Verified: December 2017 Keywords provided by University of Colorado, Denver: Klinefelter syndrome XXY syndrome Sex Chromosome Abnormality Testosterone replacement therapy Additional 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

2012 Clinical Trials

132. Life Quality and Health in Patients With Klinefelter Syndrome

and physical health, satisfaction with life and symptoms of attention deficits hyperactivity disorders. Condition or disease Klinefelter Syndrome Quality of Life Physical Disorders Mental Disorders Study Design Go to Layout table for study information Study Type : Observational Actual Enrollment : 452 participants Observational Model: Case Control Time Perspective: Cross-Sectional Official Title: Life Quality and Health in Patients With Klinefelter Syndrome - a Questionnaire Survey Study Start Date (...) Mental Disorders Psychotic Disorders Klinefelter Syndrome Pathologic Processes Schizophrenia Spectrum and Other Psychotic Disorders 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

2012 Clinical Trials

133. Clinical Presentation of Klinefelter's Syndrome: Differences According to Age Full Text available with Trip Pro

≥25.0 kg/m(2). In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight (...) Clinical Presentation of Klinefelter's Syndrome: Differences According to Age The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS) referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%). Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented

2012 International journal of endocrinology

134. The natural history of endocrine function and spermatogenesis in Klinefelter syndrome: what the data show. (Abstract)

The natural history of endocrine function and spermatogenesis in Klinefelter syndrome: what the data show. Once thought to be a chromosomal aberration associated with absolute sterility, Klinefelter syndrome may now be potentially treatable by testicular sperm retrieval coupled with intracytoplasmic sperm injection. With these therapeutic advances, azoospermic 47,XXY men now may have an opportunity for biological paternity. However, our knowledge of the basic mechanisms underlying germ cell (...) loss and Leydig cell compromise is lagging, and is just now beginning to evolve and provide answers to some of the field's most vexing questions: how to maximize and preserve fertility in Klinefelter males many years or even decades before they wish to actively pursue fatherhood. This article reviews the development of the androgenic and spermatogenic compartments of the Klinefelter testis through puberty, and recommends that it is only with a clear understanding of the basic facts that a rational

2012 Fertility and Sterility

135. The genetic origin of Klinefelter syndrome and its effect on spermatogenesis. (Abstract)

The genetic origin of Klinefelter syndrome and its effect on spermatogenesis. Klinefelter syndrome is the most prevalent chromosome abnormality and genetic cause of azoospermia in males. The availability of assisted reproductive technology (ART) has allowed men with Klinefelter syndrome to father their own genetic offspring. When providing ART to men with Klinefelter syndrome, it is important to be able to counsel them properly on both the chance of finding sperm and the potential effects (...) on their offspring. The aim of this review is twofold: [1] to describe the genetic etiology of Klinefelter syndrome and [2] to describe how spermatogenesis occurs in men with Klinefelter syndrome and the consequences this has for children born from men with Klinefelter syndrome.Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

2012 Fertility and Sterility

136. Klinefelter syndrome: how, what, and why? (Abstract)

Klinefelter syndrome: how, what, and why? Klinefelter syndrome is commonly encountered by the physician dealing with male infertility. Despite the success of sperm retrieval and ICSI, there remain many areas of controversy about the mechanisms and natural history of spermatogenesis, as well as the appropriate management of these patients. This collection of articles provides a state of the art review of what is known and what is unknown about this syndrome and reports a variety of management

2012 Fertility and Sterility

137. Spermatogonial stem cell preservation in boys with Klinefelter syndrome: to bank or not to bank, that's the question. (Abstract)

Spermatogonial stem cell preservation in boys with Klinefelter syndrome: to bank or not to bank, that's the question. Although early development of testis appears normal in boys with Klinefelter syndrome (KS), spermatogonial stem cell (SSC) depletion occurs in midpuberty, leading to infertility. Therefore, freezing of semen samples or testicular tissue sampling could be offered to boys with KS at onset of puberty. However, only in about half of patients with KS, adult or prepubertal

2012 Fertility and Sterility

138. Klinefelter Syndrome--A Clinical Update. Full Text available with Trip Pro

Klinefelter Syndrome--A Clinical Update. Recently, new clinically important information regarding Klinefelter syndrome (KS) has been published. We review aspects of epidemiology, endocrinology, metabolism, body composition, and neuropsychology with reference to recent genetic discoveries.PubMed was searched for "Klinefelter," "Klinefelter's," and "XXY" in titles and abstracts. Relevant papers were obtained and reviewed, as well as other articles selected by the authors.KS is the most common sex (...) chromosome disorder in males, affecting one in 660 men. The genetic background is the extra X-chromosome, which may be inherited from either parent. Most genes from the extra X undergo inactivation, but some escape and serve as the putative genetic cause of the syndrome. KS is severely underdiagnosed or is diagnosed late in life, roughly 25% are diagnosed, and the mean age of diagnosis is in the mid-30s. KS is associated with an increased morbidity resulting in loss of approximately 2 yr in life span

2012 Journal of Clinical Endocrinology and Metabolism

139. Klinefelter Syndrome Associated With Goniodysgenesis. (Abstract)

Klinefelter Syndrome Associated With Goniodysgenesis. We report a case of a patient with Klinefelter syndrome and glaucoma.A 30-year-old patient with karyotype 47, XXY, presented with a known medical history of glaucoma. Besides reduced fertility, no characteristic physical or behavioral symptoms for Klinefelter syndrome were found on clinical examination. While both eyes were treated with topical intraocular pressure-lowering medications, an increased intraocular pressure, visual field losses (...) . However, the association between Klinefelter syndrome and ocular manifestations is rare.: Glaucoma or in fact any other ocular manifestations associated with Klinefelter syndrome are rarely described. Here, we report a case of glaucoma and its treatment combining trabeculotomy and trabeculectomy in a patient with Klinefelter syndrome.

2012 Journal of Glaucoma

140. Subcapsular Orchiectomy in Men With Klinefelter Syndrome

by (Responsible Party): Jens Fedder, Odense University Hospital Study Details Study Description Go to Brief Summary: Men with Klinefelter syndrome undergo unilateral subcapsular ochiectomy, and the removed testicular tissue is examined for presence of sperm and cryopreserved in small pieces for fertility treatment and scientific purposes. Prior to operation blood samples are frozen in a biobank. Condition or disease Intervention/treatment Phase Klinefelter Syndrome Procedure: Orchiectomy Not Applicable Study (...) : Jens Fedder, Professor, Consultant, Ph.D., Odense University Hospital ClinicalTrials.gov Identifier: Other Study ID Numbers: Lab.Reprod.Biol.-Horsens-02 M-20100041 First Posted: December 17, 2012 Last Update Posted: October 4, 2016 Last Verified: October 2016 Additional 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

2012 Clinical Trials

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