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Klinefelter Syndrome

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https://www.readbyqxmd.com/read/29684126/when-does-germ-cell-loss-and-fibrosis-occur-in-patients-with-klinefelter-syndrome
#1
D Van Saen, V Vloeberghs, I Gies, I Mateizel, K Sermon, Jean De Schepper, H Tournaye, E Goossens
STUDY QUESTION: When does germ cell loss and fibrosis occur in patients with Klinefelter syndrome (KS)? SUMMARY ANSWER: In KS, germ cell loss is not observed in testicular tissue from fetuses in the second semester of pregnancy but present at a prepubertal age when the testicular architecture is still normal, while fibrosis is highly present at an adolescent age. WHAT IS KNOWN ALREADY: Most KS patients are azoospermic at adult age because of a massive germ cell loss...
April 19, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29680294/klinefelter-syndrome-the-effects-of-early-androgen-therapy-on-competence-and-behavioral-phenotype
#2
REVIEW
Ryan Flannigan, Premal Patel, Darius A Paduch
INTRODUCTION: Klinefelter syndrome (KS) is the result of sex chromosome aneuploidy most often characterized as 47,XXY. The typical features of KS include tall stature, gynecomastia, small firm testicles, hypergonadotropic hypogonadism, and infertility. However, abnormalities in neurodevelopment, cognition, and social and behavioral functioning also can be present. The abnormalities in neurodevelopment are believed to be due in part to androgen deficiency during early development and puberty...
April 18, 2018: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/29673950/metastatic-mediastinal-mature-teratoma-with-malignant-transformation-in-a-young-man-with-an-adenocarcinoma-in-a-klinefelter-s-syndrome-case-report-and-review-of-the-literature
#3
C Le Fèvre, C Vigneron, H Schuster, A Walter, L Marcellin, G Massard, P Lutz, G Noël
Malignant transformation of mediastinal mature teratoma is extremely rare and worsens the prognosis of the disease. Transformation can appear synchronously to or several years after the initial diagnosis. Clinical and radiological signs can orientate the clinician but the definitive diagnosis is obtained thanks to histology. An 11 year-old boy presented with a mediastinal mature teratoma and bone and pulmonary metastases. He received six cycles of chemotherapy combining etoposide, ifosfamide, cisplatin, followed by resection of a 16×14×9cm mediastinal mass...
April 16, 2018: Cancer Radiothérapie: Journal de la Société Française de Radiothérapie Oncologique
https://www.readbyqxmd.com/read/29665107/a-case-of-a-rare-variant-of-klinefelter-syndrome-47-xy-i-x-q10
#4
T Kondo, S Kuroda, K Usui, K Mori, T Asai, T Takeshima, T Kawahara, H Hamanoue, H Uemura, Y Yumura
Klinefelter syndrome is a condition in which a male patient has one Y chromosome and one or more extra X chromosomes. It is the most common sex chromosome disorder. Klinefelter syndrome is distinguished by many clinical features, such as infertility, high gonadotropin and low testosterone levels, increased height, and sparse body and facial hair. We report the case of a 32-year-old man who visited our hospital complaining of male infertility. Semen analysis showed azoospermia, and chromosomal analysis revealed a 47,XY,i(X)(q10) karyotype, which is a rare variant of Klinefelter syndrome...
April 17, 2018: Andrologia
https://www.readbyqxmd.com/read/29615074/a-klinefelter-boy-with-congenital-adrenal-hyperplasia-too-much-or-too-little-androgens
#5
Giada Zanella, Gianluca Tornese, Elisabetta Mascheroni, Elena Faleschini, Alessandro Ventura, Egidio Barbi
BACKGROUND: 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. CASE REPORT: 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...
April 3, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29615040/multicentre-cross-sectional-clinical-evaluation-study-about-quality-of-life-in-adults-with-disorders-differences-of-sex-development-dsd-compared-to-country-specific-reference-populations-dsd-life
#6
Marion Rapp, Esther Mueller-Godeffroy, Peter Lee, Robert Roehle, Baudewijntje P C Kreukels, Birgit Köhler, Anna Nordenström, Claire Bouvattier, Ute Thyen
BACKGROUND: Previous studies in quality of life (QOL) in individuals with disorders/differences of sex development (DSD) have been restricted to subpopulations of the condition. We describe QOL in adult persons with DSD compared to country specific references and assess the impact of diagnosis. METHODS: The multicentre cross-sectional clinical evaluation (dsd-LIFE) took place in 14 specialized clinics in six European countries. Adolescents (≥16 years) and adults having a DSD condition were included from 02/2014 to 09/2015...
April 3, 2018: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/29608076/body-image-and-self-esteem-in-disorders-of-sex-development-a-european-multicenter-study
#7
Tim C van de Grift, Peggy T Cohen-Kettenis, Annelou L C de Vries, Baudewijntje P C Kreukels
OBJECTIVE: Disorders/differences of sex development (DSD) refer to congenital conditions with atypical sex development and are associated with psychosexual issues. The aim of this study was to assess body image and self-esteem across the DSD spectrum and to study the impact of diagnosis and mediating characteristics. METHOD: Data collection was part of dsd-LIFE, a cross-sectional study conducted by 14 European expert clinics on wellbeing and health care evaluation of adults diagnosed with DSD...
April 2018: Health Psychology: Official Journal of the Division of Health Psychology, American Psychological Association
https://www.readbyqxmd.com/read/29606626/gender-dysphoria-and-gender-change-in-disorders-of-sex-development-intersex-conditions-results-from-the-dsd-life-study
#8
Baudewijntje P C Kreukels, Birgit Köhler, Anna Nordenström, Robert Roehle, Ute Thyen, Claire Bouvattier, Annelou L C de Vries, Peggy T Cohen-Kettenis
BACKGROUND: Information on the psychosexual outcome of individuals with disorders of sex development (DSDs) and intersex conditions is of great importance for sex assignment at birth of newborns with DSD. AIM: To assess gender change and gender dysphoria in a large sample of individuals with different DSDs. METHODS: A cross-sectional study was conducted in 14 European centers with 1,040 participants (717 female-identifying and 311 male-identifying persons and 12 persons identifying with another gender) with different forms of DSD...
March 29, 2018: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/29600796/rapid-screening-for-klinefelter-syndrome-with-a-simple-high-resolution-melting-assay-a-multicenter-study
#9
Dong-Mei Fu, Yu-Lin Zhou, Jing Zhao, Ping Hu, Zheng-Feng Xu, Shi-Ming Lv, Jun-Jie Hu, Zhong-Min Xia, Qi-Wei Guo
Klinefelter syndrome (KS) is the set of symptoms that result from the presence of an extra X chromosome in males. Postnatal population-based KS screening will enable timely diagnosis of this common chromosomal disease, providing the opportunity for early intervention and therapy at the time point when they are most effective and may prevent later symptoms or complications. Therefore, through this study, we introduced a simple high-resolution melting (HRM) assay for KS screening and evaluated its clinical sensitivity and specificity in three medical centers using 1373 clinical blood samples...
March 30, 2018: Asian Journal of Andrology
https://www.readbyqxmd.com/read/29581155/disorders-of-sex-development-timing-of-diagnosis-and-management-in-a-single-large-tertiary-center
#10
Ella Kohva, Päivi Miettinen, Seppo Taskinen, Matti Hero, Annika Tarkkanen, Taneli Raivio
BACKGROUND: We describe the phenotypic spectrum and timing of diagnosis and management in a large series of patients with disorders of sexual development (DSD) treated in a single pediatric tertiary center. METHODS: DSD patients who had visited our tertiary center during the survey period (between 2004 and 2014) were identified based on an ICD-10 inquiry, and their phenotypic and molecular genetic findings were recorded from patient charts. RESULTS: Among the 550 DSD patients, 53...
March 26, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29572708/klinefelter-syndrome-insulin-resistance-metabolic-syndrome-and-diabetes-review-of-literature-and-clinical-perspectives
#11
REVIEW
Andrea Salzano, Roberta D'Assante, Liam M Heaney, Federica Monaco, Giuseppe Rengo, Pietro Valente, Daniela Pasquali, Eduardo Bossone, Daniele Gianfrilli, Andrea Lenzi, Antonio Cittadini, Alberto M Marra, Raffaele Napoli
PURPOSE: Klinefelter syndrome (KS), the most frequent chromosomic abnormality in males, is associated with hypergonadotropic hypogonadism and an increased risk of cardiovascular diseases (CVD). The mechanisms involved in increasing risk of cardiovascular morbidity and mortality are not completely understood. This review summarises the current understandings of the complex relationship between KS, metabolic syndrome and cardiovascular risk in order to plan future studies and improve current strategies to reduce mortality in this high-risk population...
March 23, 2018: Endocrine
https://www.readbyqxmd.com/read/29546865/hyperprolactinemia-as-a-side-effect-of-long-acting-injectable-risperidone-therapy-or-a-symptom-of-klinefelter-syndrome-a-diagnostic-and-therapeutic-dilemma
#12
Nera Zivlak-Radulovic, Visnja Banjac, Mirjana Miskovic
No abstract text is available yet for this article.
March 2018: Psychiatria Danubina
https://www.readbyqxmd.com/read/29544746/non-invasive-prenatal-testing-in-detecting-sex-chromosome-aneuploidy-a-large-scale-study-in-xuzhou-area-of-china
#13
Feng Suo, Chuangxia Wang, Tianya Liu, Yuan Fang, Qin Wu, Maosheng Gu, Lingshan Gou
BACKGROUND: Cell-free fetal DNA are widely used in the prenatal genetic testing during recent years. In the present study, we tried to investigate the clinical practical feasibility of non-invasive prenatal testing (NIPT) for prenatal sex chromosome aneuploidy (SCA) analysis among pregnancies in Xuzhou area of China. METHODS: Among a cohort of 8384 pregnancies, maternal plasma samples from our prenatal diagnosis center was subject to the analysis for SCA using NIPT detection...
March 12, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29539946/re-klinefelter-syndrome-and-fertility-sperm-preservation-should-not-be-offered-to-children-with-klinefelter-syndrome
#14
Craig Niederberger
No abstract text is available yet for this article.
May 2017: Journal of Urology
https://www.readbyqxmd.com/read/29512178/klinefelter-syndrome-and-fertility-impact-of-x-chromosomal-inheritance-on-spermatogenesis
#15
S Franik, D Smeets, G van de Zande, I Gomes, K D'Hauwers, D D M Braat, K Fleischer, L Ramos
With the use of testicular sperm extraction (TESE), spermatozoa can be retrieved in about 30%-50% of men with Klinefelter syndrome (KS). The reason for the absence or presence of spermatozoa in half of the men with KS remains unknown. Therefore, the search for an objective marker for a positive prediction in finding spermatozoa is of significant clinical value to avoid unnecessary testicular biopsies in males with (mostly) low testicular volume and impaired testosterone. The objective of this study was to determine whether paternal or maternal inheritance of the additional X-chromosome can predict the absence or presence of spermatogenesis in men with KS...
March 7, 2018: Andrologia
https://www.readbyqxmd.com/read/29510647/the-genetic-and-clinical-outcome-of-isolated-fetal-muscular-ventricular-septal-defect-vsd
#16
Ran Svirsky, Dana Brabbing-Goldstein, Uri Rozovski, Livia Kapusta, Adi Reches, Yuval Yaron
INTRODUCTION: Our objective was to evaluate the incidence of chromosomal aberration (both microscopic and submicroscopic) and the clinical outcome of fetuses with isolated muscular ventricular septal defect (VSD). MATERIAL AND METHODS: The study included 40 pregnant women whose fetuses were diagnosed with isolated muscular ventricular septal defect (mVSD). Of these, 30 patients underwent amniocentesis and 10 declined. All samples were tested by chromosomal microarray analysis (CMA)...
March 20, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29493127/options-for-fertility-preservation-in-children
#17
Asma Javed, Zaraq Khan, Siobhan T Pittock, Jani R Jensen
Fertility preservation therapies can conserve future reproductive potential for persons facing serious medical diagnoses. With cure rates for childhood cancer reaching almost 80%, quality-of-life concerns for long-term survivors, including future parenting, are becoming more pertinent. Late effects of childhood cancer can be divided into physical, social, psychological, and spiritual domains. Potential loss of fertility threatens the well-being of these children in all these domains. Providers often hesitate to discuss fertility preservation with the patients...
March 2018: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/29472805/gamma-heavy-chain-disease-accompanied-with-follicular-lymphoma-a-case-report
#18
Paula San-José, Vicente Aguadero, Granada Perea, Meritxell Estrada, Eugenio Berlanga
Heavy chain diseases (HCD) are B-cell lymphoprolipherative disorders characterized by the production of monoclonal heavy chains without associated light chains. Some cases of gamma-HCD (γ-HCD) are concurrent with other lymphoid neoplasm. The monoclonal component is not always detectable by serum electrophoresis, and often an immunofixation procedure is necessary to detect this component. Prognosis is variable, and no established guidelines for follow-up are available. We describe a case of a challenging diagnosis of γ-HCD due to the absence of clinical signs frequently reported in the disease (anaemia and palatal oedema among others)...
February 15, 2018: Biochemia Medica: časopis Hrvatskoga Društva Medicinskih Biokemičara
https://www.readbyqxmd.com/read/29468986/increased-endothelial-dysfunction-and-insulin-resistance-in-patients-with-klinefelter-syndrome
#19
Cem Haymana, Aydogan Aydogdu, Ibrahim Demirci, Mustafa Dinc, Orhan Demir, Deniz Torun, Fatih Yesildal, Coskun Meric, Yalcın Basaran, Alper Sonmez, Omer Azal
Patients with Klinefelter Syndrome (KS) have increased cardiometabolic risk however the pathogenesis is not clear. We investigated the presence of endothelial dysfunction, insulin resistance and inflammation in an unconfounded population of KS. A total of 32 patients with KS (mean age 21.59 ± 1.66 years) and 33 healthy control subjects (mean age: 22.15 ± 1.03 years) were enrolled. The demographic parameters, Asymmetric dimethylarginine (ADMA), homeostatic model assessment of insulin resistance (HOMA-IR) index and high-sensitivity C-reactive protein (hs-CRP) levels were measured...
February 19, 2018: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/29466784/clinical-hormonal-and-genetic-evaluation-of-idiopathic-nonobstructive-azoospermia-and-klinefelter-syndrome-patients
#20
Shin Y Kim, Bom Y Lee, Ah R Oh, So Y Park, Hyo S Lee, Ju T Seo
To investigate the clinical, hormonal, and genetic factors in infertile men with idiopathic nonobstructive azoospermia (NOA) or azoospermic Klinefelter syndrome (KFS), a total of 556 and 96 patients, respectively, were included in this study. All patient samples were analyzed cytogenetically. Serum reproductive hormone levels were measured. Microdeletions in the azoospermia factor (AZF) region of the Y chromosome were detected by multiplex PCR using 16 specific sequence-tagged sites. FSH and LH levels in both NOA and KFS patients were significantly higher than the normal range, and the testosterone level in KFS patients was significantly lower...
February 22, 2018: Cytogenetic and Genome Research
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