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Klinefelter Syndrome

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https://www.readbyqxmd.com/read/29453817/endocrine-and-psychological-aspects-of-sexual-dysfunction-in-klinefelter-patients
#1
A Ferlin, R Selice, S Angelini, M Di Grazia, N Caretta, F Cavalieri, A Di Mambro, C Foresta
Klinefelter syndrome is a frequent cause of hypogonadism, but despite hundreds of publications on different aspects of Klinefelter syndrome, only a few studies dealt with sexual dysfunction. In particular, testosterone is critical for various aspects of sexual response, but its role on sexuality in Klinefelter syndrome patients is debatable and no studies have evaluated the efficacy of testosterone treatment on sexual dysfunction in these subjects. Furthermore, the impact of psychological and relational aspects on sexual function of Klinefelter syndrome subjects is poorly defined...
February 17, 2018: Andrology
https://www.readbyqxmd.com/read/29452406/negative-association-between-sclerostin-and-insl3-in-isolated-human-osteocytes-and-in-klinefelter-syndrome-new-hints-for-testis-bone-crosstalk
#2
Andrea Di Nisio, Luca De Toni, Maria Santa Rocca, Marco Ghezzi, Riccardo Selice, Giuseppe Taglialavoro, Alberto Ferlin, Carlo Foresta
Context/Objective: The regulation of bone mass by the testis is a well-recognized mechanism, but the role of Leydig-specific marker insuline-like 3 peptide (INSL3) on the most abundant bone cell population, osteocytes, is unknown. In this study we aimed to investigate the relationship between INSL3 and Sclerostin, an osteocyte-specific protein that negatively regulates bone formation. Design/Setting: Serum sclerostin and INSL3 levels were evaluated in Klinefelter Syndrome (KS) and healthy controls...
February 14, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29446828/novel-insights-on-testicular-volume-and-testosterone-replacement-therapy-in-klinefelter-patients-undergoing-testicular-sperm-extraction-a-retrospective-clinical-study
#3
Andrea Garolla, Riccardo Selice, Massimo Menegazzo, Umberto Valente, Filiberto Zattoni, Massimo Iafrate, Tommaso Prayer-Galetti, Marina Gardiman Paola, Alberto Ferlin, Andrea Di Nisio, Carlo Foresta
STUDY QUESTION: To investigate whether sperm recovery is related to clinical features, hormone parameters and testosterone replacement therapy (TRT) in patients with Klinefelter syndrome (KS). SUMMARY ANSWER: This study provides three interesting insights: i) the probability to retrieve sperm is not related to testicular volume; ii) TRT does not affect sperm retrieval rate (SRR); iii) reduced levels of LH and FSH represent a negative predictor of sperm retrieval in patients with TRT...
February 15, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29439729/application-of-neural-networks-for-classification-of-patau-edwards-down-turner-and-klinefelter-syndrome-based-on-first-trimester-maternal-serum-screening-data-ultrasonographic-findings-and-patient-demographics
#4
Aida Catic, Lejla Gurbeta, Amina Kurtovic-Kozaric, Senad Mehmedbasic, Almir Badnjevic
BACKGROUND: The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good approximates of complex functions, so classification can be performed without the need for explicitly defined input-output model. This engineering tool can be applied for optimization of existing methods for disease/syndrome classification. Cytogenetic and molecular analyses are the most frequent tests used in prenatal diagnostic for the early detection of Turner, Klinefelter, Patau, Edwards and Down syndrome...
February 13, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29438472/klinefelter-syndrome-integrating-genetics-neuropsychology-and-endocrinology
#5
Claus H Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore, Anne Skakkebæk
Although first identified over 70 years ago, Klinefelter syndrome (KS) continue to pose significant diagnostic challenges, as many patients are still misdiagnosed, or remain undiagnosed. In fact, as few as 25% of KS patients are accurately diagnosed, and most of these diagnoses are not made until adulthood. Classic characteristics of KS include small testes, infertility, hypergonadothropic hypogonadism, and cognitive impairment. However, the pathophysiology behind KS is not well understood, although genetic effects are also thought to play a role...
February 9, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29425704/a-measured-solution-klinefelter-syndrome
#6
Rabih M Geha, Reza Manesh
No abstract text is available yet for this article.
February 6, 2018: American Journal of Medicine
https://www.readbyqxmd.com/read/29424285/shifting-syndromes-sex-chromosome-variations-and-intersex-classifications
#7
David Andrew Griffiths
The 2006 'Consensus statement on management of intersex disorders' recommended moving to a new classification of intersex variations, framed in terms of 'disorders of sex development' or DSD. Part of the rationale for this change was to move away from associations with gender, and to increase clarity by grounding the classification system in genetics. While the medical community has largely accepted the move, some individuals from intersex activist communities have condemned it. In addition, people both inside and outside the medical community have disagreed about what should be covered by the classification system, in particular whether sex chromosome variations and the related diagnoses of Turner and Klinefelter's syndromes should be included...
February 2018: Social Studies of Science
https://www.readbyqxmd.com/read/29423966/international-investigation-of-neurocognitive-and-behavioral-phenotype-in-47-xxy-klinefelter-syndrome-predicting-individual-differences
#8
Carole Samango-Sprouse, Emily Stapleton, Selena Chea, Patrick Lawson, Teresa Sadeghin, Chris Cappello, Leo de Sonneville, Sophie van Rijn
47,XXY (KS) occurs in 1:650 male births, though less than 25% are ever identified. We assessed stability of neurocognitive features across diverse populations and quantified factors mediating outcome. Forty-four boys from the Netherlands (NL) and 54 boys from the United States (US) participated. The Wechsler Intelligence Scales assessed intellectual functioning; the ANT program evaluated cognitive function; and the CBCL assessed behavioral functioning. ANOVA was used for group comparisons. Hierarchical regressions assessed variance explained by each independent variable: parental education, timing of diagnosis, testosterone, age, and nationality...
February 9, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29413225/microdissection-testicular-sperm-extraction-micro-tese-predictive-value-of-preoperative-hormonal-levels-and-pathology-in-non-obstructive-azoospermia
#9
Alper Eken, Feray Gulec
The aim of this study was to evaluate the predictive value of preoperative hormonal levels and pathology, as well as the outcome of microsurgical testicular sperm extraction in patients with non-obstructive azoospermia (NOA), presenting to our clinic for treatment of infertility. The records of 145 men with NOA who underwent microdissection testicular sperm extraction (micro-TESE) between March 2013 and November 2016 were studied. The patient's age, testicular volume, hormonal profile for follicle-stimulating hormone (FSH), luteinizing hormone (LH), and testosterone (TT), and testicular pathology were recorded...
February 2018: Kaohsiung Journal of Medical Sciences
https://www.readbyqxmd.com/read/29406610/the-nature-of-social-cognitive-deficits-in-children-and-adults-with-klinefelter-syndrome-47-xxy
#10
Sophie van Rijn, Leo de Sonneville, Hanna Swaab
About 1 in 650 boys are born with an extra X chromosome (47,XXY or Klinefelter Syndrome). 47,XXY is associated with vulnerabilities in socio-emotional development. This study was designed to assess types of cognitive deficits in individuals with 47,XXY that may contribute to social-emotional dysfunction, and to evaluate the nature of such deficits at various levels: ranging from basic visuo-spatial processing deficits, impairments in face recognition, to emotion expression impairments. A total of 70 boys and men with 47,XXY, aged 8 to 60 years old, participated in the study...
February 6, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29398514/-klinefelter-syndrome-and-cardiovascular-risk
#11
A Yamaguchi, P Knoblovits
We present a 45-year-old patient with Klinefelter syndrome, with a history of type 2 diabetes mellitus, obesity, dyslipidemia, obstructive sleep apnoea syndrome and masked arterial hypertension. The purpose of this presentation is to draw attention to the increased cardiovascular risk in these patients and to review the data in the literature on this risk.
February 2, 2018: Hipertensión y Riesgo Vascular
https://www.readbyqxmd.com/read/29384142/endogenous-testosterone-and-mortality-risk
#12
REVIEW
Emily J Meyer, Gary Wittert
In men, obesity and metabolic complications are associated with lower serum testosterone (T) and dihydrotestosterone (DHT) and an increased risk of, and mortality from, multiple chronic diseases in addition to cardiovascular disease (CVD). The causal interrelationships between these factors remain a matter of debate. In men with untreated congenital and lifelong forms of hypogonadotropic hypogonadism, there appears to be no increased risk. Men with Klinefelter's syndrome have an increased risk of various types of cancers, as well as CVD, which persist despite T therapy...
January 30, 2018: Asian Journal of Andrology
https://www.readbyqxmd.com/read/29382506/klinefelter-syndrome-more-than-hypogonadism
#13
REVIEW
George A Kanakis, Eberhard Nieschlag
Klinefelter syndrome (KS) is the most frequent chromosome disorder in males (1:650 newborn males), defined by 47,XXY karyotype. The classical phenotype is that of a tall male with relatively long legs, small, firm testes and gynecomastia. Azoospermia and infertility are almost inevitably present, but may be overcome by TESE and ICSI. Nevertheless, a broad spectrum of phenotypes has been described and >70% of the actually existing KS men may remain undiagnosed throughout their lifespan. Accordingly, hypogonadism is usually not evident until early adulthood and progresses with ageing...
January 27, 2018: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29375860/rare-48-xyyy-syndrome-case-report-and-review-of-the-literature
#14
Maryam Abedi, Arash Salmaninejad, Ebrahim Sakhinia
48, XYYY syndrome is a rare condition. A male with 32-year-old and three Y chromosomes is described. This syndrome is phenotypically similar to Klinefelter syndrome. In this patient, Semi-Klinefelter characteristics such as tall stature, teeth dysmorphology, long length of fingers, partial deformity of the joints, likewise mental health problems were obvious.
January 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29374079/tlr7-escapes-x-chromosome-inactivation-in-immune-cells
#15
Mélanie Souyris, Claire Cenac, Pascal Azar, Danièle Daviaud, Astrid Canivet, Solange Grunenwald, Catherine Pienkowski, Julie Chaumeil, José E Mejía, Jean-Charles Guéry
Toll-like receptor 7 (TLR7) is critical to the induction of antiviral immunity, but TLR7 dosage is also a key pathogenic factor in systemic lupus erythematosus (SLE), an autoimmune disease with strong female bias. SLE prevalence is also elevated in individuals with Klinefelter syndrome, who carry one or more supernumerary X chromosomes, suggesting that the X chromosome complement contributes to SLE susceptibility. TLR7 is encoded by an X chromosome locus, and we examined here whether the TLR7 gene evades silencing by X chromosome inactivation in immune cells from women and Klinefelter syndrome males...
January 26, 2018: Science Immunology
https://www.readbyqxmd.com/read/29371826/long-term-clinical-outcomes-of-testicular-sperm-extraction-and-intracytoplasmic-sperm-injection-for-infertile-men
#16
Noriyuki Okuyama, Ryuichiro Obata, Nao Oka, Yusuke Nakamura, Hiromitsu Hattori, Yukiko Nakajo, Nobuya Aono, Masae Koizumi, Mayumi Toya, Koichi Nagao, Toshihiro Tai, Tomoko Hashimoto, Hideki Igarashi, Koichi Kyono
Purpose: To find the best methods to achieve the highest pregnancy and birth rates for couples needing testicular sperm extraction (TESE)-intracytoplasmic sperm injection (ICSI). Methods: Retrospectively studied were 801 patients with male factor infertility who had undergone TESE-ICSI between April, 1996 and July, 2016 and who had been categorized into four groups: obstructive azoospermia (OA); non-obstructive azoospermia (NOA); Klinefelter syndrome (KS); and cryptozoospermia (Crypt)...
January 2018: Reproductive Medicine and Biology
https://www.readbyqxmd.com/read/29371337/endocrine-and-metabolic-evaluation-of-classic-klinefelter-syndrome-and-high-grade-aneuploidies-of-sexual-chromosomes-with-male-phenotype-are-they-different-clinical-conditions
#17
Matteo Spaziani, Mileno Benedetta, Fabio Rossi, Simona Granato, Natascia Tahani, Antonella Anzuini, Andrea Lenzi, Antonio F Radicioni
OBJECTIVE: Klinefelter Syndrome (KS) is the most common sex chromosome aneuploidy in males. As well as classic KS, less frequent higher-grade aneuploidies (HGAs) are also possible. While KS and HGAs both involve testicular dysgenesis with hypergonadotropic hypogonadism, they differ in many clinical features. The aim of this study was to investigate the endocrinal and metabolic differences between KS and HGAs. DESIGN: Cross-sectional, case-control study. METHODS: 88 patients with KS, 24 with an HGA and 60 healthy controls...
January 25, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29333085/next-generation-sequencing-expression-profiling-of-mitochondrial-subunits-in-men-with-klinefelter-syndrome
#18
Michele Salemi, Laura Cimino, Marika Marino, Rossella Cannarella, Rosita A Condorelli, Corrado Romano, Sandro La Vignera, Aldo E Calogero
Objectives: Klinefelter syndrome (KS) is one of the most common sex-chromosome disorders as it affects up to 1 in every 600-1000 newborn males. Men with KS carry one extra X chromosome and they usually present a 47,XXY karyotype, but less frequent variants have also been reported in literature. KS typical symptoms include tall stature, gynecomastia, broad hips, hypogonadism and absent spermatogenesis. The syndrome is also related to a wide range of cognitive deficits, among which language-based learning disabilities and verbal cognition impairment are frequently diagnosed...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29325624/sex-chromosome-aneuploidies
#19
David Skuse, Frida Printzlau, Jeanne Wolstencroft
Sex chromosome aneuploidies comprise a relatively common group of chromosome disorders characterized by the loss or gain of one or more sex chromosomes. We discuss five of the better-known sex aneuploidies: Turner syndrome (XO), Klinefelter syndrome (XXY), trisomy X (XXX), XYY, and XXYY. Despite their prevalence in the general population, these disorders are underdiagnosed and the specific genetic mechanisms underlying their phenotypes are poorly understood. Although there is considerable variation between them in terms of associated functional impairment, each disorder has a characteristic physical, cognitive, and neurologic profile...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29321947/portal-vein-thrombosis-due-to-an-increase-in-dose-of-testosterone-in-a-young-man-with-klinefelter-syndrome
#20
Waseem Amjad, Salma Khatoon, Twara Tarasaria, Gulru Sharifova
Klinefelter syndrome (KS) is associated with increased incidence of thrombotic events. Hypofibrinolysis is associated with increased risk of thromboembolism. Although testosterone replacement therapy (TRT) inhibits the hypofibrinolysis, it can still cause thrombosis paradoxically due to increased dose and duration of use. Herein, we present a case of a young male diagnosed with KS who was taking testosterone. The dose was increased to boost the energy levels, and the patient presented with abdominal pain. Computed tomography (CT) of the abdomen showed extensive portal vein thrombosis...
November 6, 2017: Curēus
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