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https://read.qxmd.com/read/30766817/clinical-spectrum-of-disorders-of-sex-development-a-cross-sectional-observational-study
#1
Sheeraz A Dar, Mudasir Nazir, Roumissa Lone, Duri Sameen, Ikhlas Ahmad, Wasim A Wani, Bashir A Charoo
Objective: Disorders of sex development (DSD) constitutes a small but difficult and equally important area of endocrinology. It is often a social emergency as the decision regarding sex assignment in these cases is extremely disturbing and difficult to both families and healthcare professionals. Our study was devised to assess the clinical and chromosomal profile of patients with suspected DSD and classify them according to the new DSD consensus document. Subjects and Methods: This study was a cross-sectional observational study carried out in the department of pediatrics of a tertiary care hospital from August 2012 to August 2014...
November 2018: Indian Journal of Endocrinology and Metabolism
https://read.qxmd.com/read/30755791/recent-advances-in-managing-and-understanding-klinefelter-syndrome
#2
REVIEW
Priyanka Bearelly, Robert Oates
Klinefelter syndrome can present as a wide spectrum of clinical manifestations at various stages in life, making it a chromosomal disorder with no standardized set of guidelines for appropriate management. Understanding the genetic and hormonal causes of this syndrome can allow physicians to treat each patient on a more individualized basis. The timing of diagnosis and degree of symptoms can guide management. This report will provide an updated review of the clinical presentation at various stages in life and the implications for management...
2019: F1000Research
https://read.qxmd.com/read/30746732/a-rare-case-in-literature-isochromosome-xq-in-klinefelter-syndrome
#3
Levent Simsek, Ayse Gul Zamani, Hakan Hakkı Taskapu, Mahmut Selman Yildirim
BACKGROUND: Klinefelter syndrome(KS), affecting 1 in 500-1,000 newborn males, is the most common sex chromosome aneuploidy among males with primary hypogonadism. Isochromosome Xq on the other hand is a rare variant of Klinefelter syndrome, accounting approximately 0.3% of all KS and associated with normal height and androgenisation compared to classical KS. Here, we present a case of isochromosome Xq variant of KS with similar clinical and cytogenetic findings with the few cases reported before...
February 11, 2019: Andrologia
https://read.qxmd.com/read/30718080/male-fertility-preservation-in-dsd-xxy-pre-gonadotoxic-treatments-update-methods-ethical-issues-current-outcomes-future-directions
#4
REVIEW
Maria Grazia Giudice, Federico Del Vento, Christine Wyns
This paper aims at reviewing the fertility preservation strategies that could be considered in several conditions at risk of spermatogonial depletion such as 46,XY disorders of sexual development, Klinefelter syndrome and after gonadotoxic treatment in males highlighting current knowledge on diseases and processes involved in infertility as well as future directions along with their specific ethical issues. While sperm cryopreservation after puberty is the only validated technique for fertility preservation, for prepubertal boys facing gonadotoxic therapies or at risk of testicular tissue degeneration where testicular sperm is not present, cryopreservation of spermatogonial cells may be an option to ensure future parenthood...
January 23, 2019: Best Practice & Research. Clinical Endocrinology & Metabolism
https://read.qxmd.com/read/30701446/relative-hyperestrogenism-in-klinefelter-syndrome-results-from-a-meta-analysis
#5
Daniele Santi, Sara De Vincentis, Sara Scaltriti, Vincenzo Rochira
OBJECTIVE: Klinefelter Syndrome (KS) is classically described as characterized by hyperestrogenism, although solid evidence is lacking. This study aims to test the hypothesis that men with KS have higher serum estradiol than normal controls. DESIGN: Meta-analysis of all studies extracted by MEDLINE from 1942 to 31 January 2018. All studies reporting serum estradiol measurement were considered, among them only case-control studies were included in the meta-analysis...
January 30, 2019: Endocrine
https://read.qxmd.com/read/30672880/sexual-identity-disorder-and-psychosis-in-klinefelter-syndrome-a-synthesis-of-literature-and-a-case-report
#6
Aude Maillefer, Michel Sabe, Christophe Coste, Javier Bartolomei, Jaafar Jaafar, Othman Sentissi
Klinefelter syndrome (KS) 47, XXY is the most frequent chromosomal abnormality causing hypogonadism in humans. This chromosomal abnormality of number in its classical form called homogeneous (supernumerary X) is generally the result of a meiosis accident. Several studies have suggested that individuals with KS are at greater risk of developing various psychiatric disorders, including depression and schizophrenia. The diagnosis is made based on subnormal testosterone with high pituitary gonadotropins and confirmed by determining the karyotype on a blood simple...
January 21, 2019: Journal of Nervous and Mental Disease
https://read.qxmd.com/read/30666078/the-first-case-of-a-small-supernumerary-marker-chromosome-18-in-a-klinefelter-fetus-a-case-report
#7
Jamileh Saberzadeh, Mohammad Reza Miri, Mehdi Dianatpour, Abbas Behzad Behbahani, Mohammad Bagher Tabei, Mohsen Alipour, Mohammad Ali Faghihi, Majid Fardaei
Small supernumerary marker chromosomes (sSMCs), or markers, are abnormal chromosomal fragments that can be hereditary or de novo. Despite the importance of sSMCs diagnosis, de novo sSMCs are rarely detected during the prenatal diagnosis process. Usually, prenatally diagnosed de novo sSMCs cannot be correlated with a particular phenotype without knowing their chromosomal origin and content; therefore, molecular cytogenetic techniques are applied to achieve this goal. The present study aimed to characterize an sSMC in a case of Klinefelter syndrome using an in-house microsatellite analysis method and fluorescent in situ hybridization (FISH) technique...
January 2019: Iranian Journal of Medical Sciences
https://read.qxmd.com/read/30653019/re-when-does-germ-cell-loss-and-fibrosis-occur-in-patients-with-klinefelter-syndrome
#8
Craig Niederberger
No abstract text is available yet for this article.
January 15, 2019: Journal of Urology
https://read.qxmd.com/read/30642344/changes-in-the-cohort-composition-of-turner-syndrome-and-severe-non-diagnosis-of-klinefelter-47-xxx-and-47-xyy-syndrome-a-nationwide-cohort-study
#9
Agnethe Berglund, Mette Hansen Viuff, Anne Skakkebæk, Simon Chang, Kirstine Stochholm, Claus Højbjerg Gravholt
BACKGROUND: Knowledge on the prevalence of sex chromosome abnormalities (SCAs) is limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. We aimed to investigate change over time in incidence, prevalence and age at diagnosis among Turner syndrome (TS), Klinefelter syndrome (KS), Triple X syndrome (Triple X) and Double Y syndrome (Double Y). METHODS: This study is a nationwide cohort study in a public health care system. The Danish Cytogenetic Central Registry (DCCR) holds information on all karyotypes performed in Denmark since 1961...
January 14, 2019: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/30637954/the-incidence-of-anxiety-symptoms-in-boys-with-47-xxy-klinefelter-syndrome-and-the-possible-impact-of-timing-of-diagnosis-and-hormonal-replacement-therapy
#10
Carole Samango-Sprouse, Patricia Lasutschinkow, Sherida Powell, Teresa Sadeghin, Andrea Gropman
47,XXY (Klinefelter syndrome) is the most common X and Y chromosomal variation (1:660 males). The incidence of anxiety disorders and the impact of hormonal replacement therapy (HRT) is not well understood. Child Behavior Checklist and Screen for Childhood Anxiety Related Emotional Disorders were completed by parents of 80 boys with 47,XXY. Forty received HRT prior to 10 years of age while 40 did not. HRT (22.5%) received early hormonal treatment prior to 18 months. About 32.5% received hormone booster treatment between 5 and 10 years...
January 13, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30618195/high-level-language-competencies-and-theory-of-mind-in-a-group-of-children-with-klinefelter-syndrome
#11
Sergio Melogno, M Antonietta Pinto, Fausto Badolato, Eleonora Sist, Antonella Esposito, Margherita Orsolini, Luigi Tarani
Klinefelter syndrome (KS) is a genetic anomaly involving the presence of one or more supernumerary X chromosomes in male individuals. In the cognitive profile of these individuals, strengths are found in nonverbal abilities, whereas weaknesses are observed in executive function, language, and academic performance. Our study is based on a comparison between eight children diagnosed with KS (47,XXY) (age range: 9-13 years; IQ range: 80-123), with no delay in language development, and eight typically developing (TD) controls...
January 8, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30612561/evidence-for-long-noncoding-rna-gas5-up-regulationin-patients-with-klinefelter-syndrome
#12
Michele Salemi, Rossella Cannarella, Rosita A Condorelli, Laura Cimino, Federico Ridolfo, Giorgio Giurato, Corrado Romano, Sandro La Vignera, Aldo E Calogero
BACKGROUND: Klinefelter syndrome (KS) is characterized by the presence of at least one supernumerary X chromosome. KS typical symptoms include tall stature, gynecomastia, hypogonadism and azoospermia. KS patients show a higher risk of developing metabolic and cardiovascular diseases, inflammatory and autoimmune disorders, osteoporosis and cancer. Long non-coding RNA (lncRNA) growth arrest-specific 5 (GAS5) has been shown to be involved in several biologic processes, including inflammatory and autoimmune diseases, vascular endothelial cells apoptosis and atherosclerosis, as well as cellular growth and proliferation, cellular development and cell-to-cell signaling and interaction...
January 7, 2019: BMC Medical Genetics
https://read.qxmd.com/read/30592247/the-association-of-motor-skills-and-adaptive-functioning-in-xxy-klinefelter-and-xxyy-syndromes
#13
Sydney Martin, Lisa Cordeiro, Pamela Richardson, Shanlee Davis, Nicole Tartaglia
AIMS: Klinefelter (XXY) and XXYY syndromes are genetic disorders in males characterized by additional sex chromosomes compared to the typical male karyotype of 46, XY. Both conditions have been previously associated with motor delays and motor skills deficits. We aimed to describe and compare motor skills in males with XXY and XXYY syndromes, and to analyze associations with age, cognitive abilities, and adaptive functioning. METHODS: Sixty-four males with XXY and 46 males with XXYY, ages 4-20 were evaluated using the Beery Test of Visual Motor Integration and the Bruininks-Oseretsky Test of Motor Proficiency - 2nd Edition assessments, Vineland-2 adaptive scales, and cognitive testing...
December 28, 2018: Physical & Occupational Therapy in Pediatrics
https://read.qxmd.com/read/30582308/-pulmonary-embolism-in-a-patient-with-klinefelter-syndrome
#14
Tomer Saad, Victor Belsky, Naim Mahrom, Haward Amital
Klinefelter syndrome (47, XXY) is the most common chromosomal aberration in males. It occurs in 0.15% of newborn males. The syndrome is related to increased mortality from a variety of medical problems including cardiovascular diseases, malignancies, nervous system disturbances, epilepsy and diabetes. In a review of the literature it was found that patients with the Klinefelter syndrome are more likely to develop thrombosis and pulmonary embolism. Even though the pathophysiological mechanism is still not entirely understood, we should consider the appropriate medical attention to the prevention and treatment of thromboembolic events in Klinefelter patients...
December 2018: Harefuah
https://read.qxmd.com/read/30560797/-testicular-microlithiasis-update-on-diagnosis-and-management
#15
Miguel Maldonado-Ávila, Mirna Guadalupe Echavarría-Sánchez, Silvia Martínez-Cruz, José de Jesús Oswaldo Islas-García, Hugo Arturo Manzanilla-García, Emmanuel Rosas-Nava, Leopoldo Mateo Garduño-Arteaga, Melissa María Morales-Berrocal
Testicular microlithiasis (TM) is an uncommonurologic condition incidentally diagnosed byscrotal ultrasound. It has been associated with differentdiseases, such as Klinefelter`s syndrome, testicular atrophy,cryptorchidism, testicular torsion, and infertility.However, it can also present in healthy males that haveno associated risk factors. Currently, TM is most oftendetected thanks to the superior resolution of today's ultrasoundequipment, compared with former models. In the1990s, TM was considered a benign condition with noimportant clinical relevance, but later reports associatedit with the development of testicular neoplasias andinfertility...
December 2018: Archivos Españoles de Urología
https://read.qxmd.com/read/30553479/identification-and-characterization-of-a-novel-nuclear-structure-containing-members-of-the-homologous-recombination-and-dna-damage-response-pathways
#16
Megan L Sierant, Scott K Davey
The human RAD9A protein is required for successful execution of the G2/M DNA damage checkpoint. Along with RAD1 and HUS1, RAD9A exists in a heterotrimeric ring-shaped complex which is necessary for activation of the CHK1 checkpoint kinase. RAD9A is also required for proper localization of both TopBP1 and the Claspin adaptor protein during the DNA damage response. We have shown large, RAD9A-dense nuclear foci containing several members of the homologous recombination pathway as well as BRCA1 and the DNA damage marker γH2AX...
December 2018: Cancer Genetics
https://read.qxmd.com/read/30507702/endocrine-aspects-of-klinefelter-syndrome
#17
Adriana Herrera Lizarazo, Michelle McLoughlin, Maria G Vogiatzi
PURPOSE OF REVIEW: Klinefelter syndrome is the most common sex chromosome abnormality in men. Hypogonadism and testicular degeneration are almost universal. Truncal adiposity, metabolic syndrome and low bone mass occur frequently. This review summarizes the most recent advances in the pathogenesis and management of the endocrine abnormalities in Klinefelter syndrome. It is expected that optimal endocrine management will improve outcomes and quality of life in Klinefelter syndrome. RECENT FINDINGS: In Klinefelter syndrome, testosterone replacement is routinely prescribed despite lack of evidence on the optimal dose and time for initiation of therapy...
February 2019: Current Opinion in Endocrinology, Diabetes, and Obesity
https://read.qxmd.com/read/30499012/incidence-of-y-chromosome-microdeletions-in-patients-with-klinefelter-syndrome
#18
F Sciarra, M Pelloni, F Faja, F Pallotti, G Martino, A F Radicioni, A Lenzi, F Lombardo, D Paoli
PURPOSE: The aim of this study was to study the incidence of Y chromosome microdeletions in a Caucasian population of Klinefelter syndrome (KS) patients and to investigate the possible association between Y chromosome microdeletions and KS. MATERIALS AND METHODS: We conducted a retrospective study on 118 KS patients, 429 patients with non-obstructive azoospermia (NOA), and 155 normozoospermic men. Eight of the 118 KS patients had undergone testicular sperm extraction (TESE)...
November 29, 2018: Journal of Endocrinological Investigation
https://read.qxmd.com/read/30453967/calcifying-nested-stromal-epithelial-tumor-of-the-liver-in-a-patient-with-klinefelter-syndrome-a-case-report-and-review-of-the-literature
#19
Satoru Tsuruta, Norihisa Kimura, Keinosuke Ishido, Daisuke Kudo, Kentaro Sato, Tetsu Endo, Tadashi Yoshizawa, Aoi Sukeda, Nobuyoshi Hiraoka, Hiroshi Kijima, Kenichi Hakamada
BACKGROUND: Calcifying nested stromal epithelial tumor (CNSET) is a primary neoplasm of the liver, characterized by well-demarcated nests consisting of spindle and epithelioid cells with calcification and bone formation. An association of Cushing syndrome with CNSET has drawn attention, but the origin of CNSET has not been clarified. CASE PRESENTATION: We report here the case of a 20-year-old male with Klinefelter syndrome who underwent liver resection for an increasing liver tumor that was pathologically diagnosed with CNSET...
November 19, 2018: World Journal of Surgical Oncology
https://read.qxmd.com/read/30412595/anxiety-and-depression-in-klinefelter-syndrome-the-impact-of-personality-and-social-engagement
#20
Anne Skakkebæk, Philip J Moore, Anders Degn Pedersen, Anders Bojesen, Maria Krarup Kristensen, Jens Fedder, Jens Michael Hertz, John R Østergaard, Mikkel Wallentin, Claus Højbjerg Gravholt
Klinefelter syndrome (KS) (47, XXY) is the most common sex chromosome disorder, with a prevalence of 1 in every 660 newborn males. Despite the profound adverse effects of anxiety and depression, and their greater prevalence in KS populations, no research has been conducted to date to identify the determinants of anxiety and depression among patients with KS. We examined the relationships between personality traits, social engagement, and anxiety and depression symptoms among KS patients (n = 69) and a group of male controls (n = 69) matched for age and years of education...
2018: PloS One
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