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https://www.readbyqxmd.com/read/29789566/transcriptome-analysis-of-the-adult-human-klinefelter-testis-and-cellularity-matched-controls-reveals-disturbed-differentiation-of-sertoli-and-leydig-cells
#1
Sofia Boeg Winge, Marlene Danner Dalgaard, Kirstine G Belling, Jacob Malte Jensen, John Erik Nielsen, Lise Aksglaede, Mikkel Heide Schierup, Søren Brunak, Niels Erik Skakkebæk, Anders Juul, Ewa Rajpert-De Meyts, Kristian Almstrup
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...
May 22, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29788175/prevalence-of-xxy-karyotypes-in-human-blastocysts-multicentre-data-from-7549-trophectoderm-biopsies-obtained-during-preimplantation-genetic-testing-cycles-in-ivf
#2
Rossella Mazzilli, Danilo Cimadomo, Laura Rienzi, Antonio Capalbo, Paolo Emanuele Levi Setti, Claudia Livi, Damiano Vizziello, Carlo Foresta, Alberto Ferlin, Filippo Maria Ubaldi
STUDY QUESTION: Which is the prevalence of a 47,XXY karyotype in human blastocysts biopsied during preimplantation genetic testing for aneuploidies (PGT-A) cycles? SUMMARY ANSWER: The prevalence of a 47,XXY karyotype amongst male blastocysts without autosomal aneuploides is ~1%. WHAT IS KNOWN ALREADY: The prevalence of Klinefelter syndrome is estimated as 0.1-0.2% in male newborns. However, the KS phenotype is extremely variable and there are men with a 47,XXY karyotype and less evident signs, who may go undetected...
May 19, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29774207/overview-of-social-cognitive-dysfunctions-in-rare-developmental-syndromes-with-psychiatric-phenotype
#3
REVIEW
Aurore Morel, Elodie Peyroux, Arnaud Leleu, Emilie Favre, Nicolas Franck, Caroline Demily
Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29759049/klinefelter-s-syndrome-with-lupus-encephalitis-and-retroperitoneal-teratoma
#4
C Ng Wq, S E Eide, Huang J, Khor Ym
We report a case of a middle-aged male who presented with pyrexia of unknown origin, oral ulcers, rash and bicytopenia. His past medical history included unexplained proteinuria, infertility and joint pain. Initial workup showed a large retroperitoneal soft tissue mass, which has appeared stable for 10 years. He subsequently developed neuropsychiatric symptoms with imaging findings of meningoencephalitis. Concurrent investigations showed elevated ANA, anti-double-stranded DNA (dsDNA) and ESR levels, as well as low complement levels...
January 1, 2018: Lupus
https://www.readbyqxmd.com/read/29752333/the-endocrinology-of-male-breast-cancer
#5
REVIEW
Ian S Fentiman
Male breast cancer (MBC) is a rare disease but, as a result of epidemiological collaborations, there is now greater clarity concerning endocrine risk factors. The significant rise in global age-standardised mean BMI in men is likely to lead to increases in incidence of maturity-onset diabetes and MBC. The metabolic changes accompanying obesity decrease androgens and sex hormone-binding globulin (SHBG), thereby increasing available oestrogens. The higher rates of MBC in North and Equatorial Africa are largely due to liver damage from endemic bilharziasis and hepatitis B causing elevated oestradiol (E2 ) levels from hepatic conversion of androgen...
June 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29744390/stage-1-registered-report-variation-in-neurodevelopmental-outcomes-in-children-with-sex-chromosome-trisomies-protocol-for-a-test-of-the-double-hit-hypothesis
#6
Dianne F Newbury, Nuala H Simpson, Paul A Thompson, Dorothy V M Bishop
Background : The presence of an extra sex chromosome is associated with an increased rate of neurodevelopmental difficulties involving language. Group averages, however, obscure a wide range of outcomes. Hypothesis: The 'double hit' hypothesis proposes that the adverse impact of the extra sex chromosome is amplified when genes that are expressed from the sex chromosomes interact with autosomal variants that usually have only mild effects. Neuroligin-4 genes are expressed from X and Y chromosomes; they play an important role in synaptic development and have been implicated in neurodevelopment...
2018: Wellcome Open Research
https://www.readbyqxmd.com/read/29738176/-microdissection-testicular-sperm-extraction-for-patients-with-nonmosaic-klinefelter-syndrome-a-report-of-143-cases
#7
Jia-Ming Mao, Lian-Ming Zhao, Kai Hong, Wen-Hao Tang, De-Feng Liu, Hao-Cheng Lin, Han Wu, Hai-Tao Zhang, Hong-Liang Zhang, Yu-Zhuo Yang, Ya-Peng Wang, Ying Lian, Hui Jiang, Lu-Lin Ma, Jie Qiao
Objective: To investigate the clinical application and outcomes of microdissection testicular sperm extraction (micro-TESE) in patients with nonmosaic Klinefelter syndrome (KS). METHODS: A total of 143 nonmosaic KS patients underwent micro-TESE in the Center of Reproductive Medicine of Peking University Third Hospital between July 2012 and August 2016. We analyzed their clinical and follow-up data and evaluated the outcomes. RESULTS: Spermatozoa were successfully retrieved from the testicular tissue in 44...
December 2017: Zhonghua Nan Ke Xue, National Journal of Andrology
https://www.readbyqxmd.com/read/29732662/survival-in-double-aneuploidy-involving-trisomy-18-and-sex-chromosome-trisomy-a-case-report-of-a-27-month-old-child-and-a-review-of-the-literature
#8
Takahide Watabe, Hiroshi Koga
Maternal meiotic nondisjunction can cause autosomal trisomy, such as trisomy 13, 18, and 21, and parental meiotic nondisjunction or post-zygotic nondisjunction can cause sex chromosome trisomy, such as XXX (triple X syndrome), XXY (Klinefelter syndrome), and XYY (XYY syndrome).
May 7, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29726895/the-risk-of-tese-induced-hypogonadism-a-systematic-review-and-meta-analysis
#9
Jitske Eliveld, Madelon van Wely, Andreas Meißner, Sjoerd Repping, Fulco van der Veen, Ans M M van Pelt
BACKGROUND: Testicular sperm extraction (TESE) is a surgical procedure to retrieve spermatozoa from the testes of men with azoospermia to help them achieve biological parenthood. Although effective, the surgical procedure is not without complications and haematoma, devascularization, inflammation and a decrease in testosterone levels have been described as such. The prevalence and duration of hypogonadism and associated symptoms after TESE have not been studied systematically. OBJECTIVE AND RATIONALE: In this systematic review we addressed the following research questions: Are serum testosterone levels decreased after TESE and, if so, do these levels recover over time? What is the prevalence of symptoms and signs related to hypogonadism after TESE and are they related to testosterone levels? SEARCH METHODS: We searched the databases Pubmed and Embase from 1 January 1993 to 26 June 2017...
May 3, 2018: Human Reproduction Update
https://www.readbyqxmd.com/read/29726668/-microdissection-testicular-sperm-extraction-for-patients-with-non-mosaic-klinefelter-s-syndrome-an-update
#10
REVIEW
Zhe Yu, Jun Yang, Ji-Hong Liu
Klinefelter's syndrome (KS) is a most frequent sex chromosomal disorder in males, which is characterized by hypogonadism and infertility. The development of assisted reproductive technology has made it possible for KS males to father children. Microdissection testicular sperm extraction (mTESE) is widely considered to be the best method for sperm retrieval in KS patients. This article presents an overview on mTESE for men with non-mosaic KS in the aspects of its predictors, sperm retrieval rate, operation procedure, preoperative hormonal therapy, and postoperative complications and testosterone reduction...
September 2017: Zhonghua Nan Ke Xue, National Journal of Andrology
https://www.readbyqxmd.com/read/29726661/-micro-dissection-testicular-sperm-extraction-for-patients-with-non-obstructive-azoospermia-a-report-of-196-cases
#11
Jing Zhang, Gui-Hua Liu, Lu-Gang Zhao, Xiao-Yan Liang, Zhong-Yang Wang
Objective: To investigate the effect of micro-dissection testicular sperm extraction (microTESE) for patients with non-obstructive azoospermia (NOA) and the indications of the strategy. METHODS: This retrospective study included 196 cases of NOA undergoing microTESE in our center from September 2014 to March 2017. We recorded the sperm retrieval rate (SRR) and analyzed its correlation with the patients' age, testis volume, level of blood follicle-stimulating hormone (FSH), and etiological factors...
September 2017: Zhonghua Nan Ke Xue, National Journal of Andrology
https://www.readbyqxmd.com/read/29706320/sex-differences-in-obesity-lipid-metabolism-and-inflammation-a-role-for-the-sex-chromosomes
#12
REVIEW
Temeka Zore, Maria Palafox, Karen Reue
BACKGROUND: Sex differences in obesity and related diseases are well established. Gonadal hormones are a major determinant of these sex differences. However, sex differences in body size and composition are evident prior to exposure to gonadal hormones, providing evidence for gonadal-independent contributions attributable to the XX or XY sex chromosome complement. Large-scale genetic studies have revealed male/female differences in the genetic architecture of adipose tissue amount and anatomical distribution...
April 12, 2018: Molecular Metabolism
https://www.readbyqxmd.com/read/29696556/long-term-effect-of-testosterone-replacement-therapy-on-bone-in-hypogonadal-men-with-klinefelter-syndrome
#13
N Tahani, L Nieddu, G Prossomariti, M Spaziani, S Granato, F Carlomagno, A Anzuini, A Lenzi, A F Radicioni, E Romagnoli
PURPOSE: To assess different aspects of bone damage in untreated adult patients with Klinefelter Syndrome (KS) before and during testosterone replacement therapy (TRT). METHODS: Fifteen untreated hypogonadal men with KS and 26 control subjects (C) matched for age and BMI were recruited. Sex hormone levels were measured in all subjects. Lumbar spine (LS) and femoral (neck: FN and total hip: TH) bone mineral density (BMD), trabecular bone score (TBS), hip structure analysis (HSA) and fat measures (percentage of fat mass, android/gynoid ratio and visceral adipose tissue) were evaluated by DEXA...
April 25, 2018: Endocrine
https://www.readbyqxmd.com/read/29692680/microdissection-testicular-sperm-extraction-in-five-japanese-patients-with-non-mosaic-klinefelter-s-syndrome
#14
Makoto Chihara, Kanna Ogi, Tatsuya Ishiguro, Kunihiko Yoshida, Chikako Godo, Koichi Takakuwa, Takayuki Enomoto
Cases: Microdissection testicular sperm extraction (micro-TESE) was performed on five Japanese men with non-mosaic Klinefelter's syndrome (KS) and non-obstructive azoospermia in the authors' department. Here is reported the operative results and partner's clinical course for two cases where spermatozoa could be acquired. Also encountered was a man with non-mosaic KS with the partial deletion of azoospermia factor (AZF)b. Because this is rare, it is reported in detail in the context of the previous literature...
April 2018: Reproductive Medicine and Biology
https://www.readbyqxmd.com/read/29684126/when-does-germ-cell-loss-and-fibrosis-occur-in-patients-with-klinefelter-syndrome
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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