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https://www.readbyqxmd.com/read/28096991/premature-pubarche-in-a-child-with-abnormal-3%C3%AE-hydroxysteroid-dehydrogenase-function-and-klinefelter-syndrome-the-intriguing-relationship-between-androgen-deficiency-and-excess
#1
Michele Gortakowski, Rushika Conroy, Luisa Aguiar, Holley Allen
Disorders of androgen excess may coexist with disorders of androgen deficiency, such as Klinefelter syndrome, and can create diagnostic and therapeutic challenges.
January 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28090675/cross-sectional-study-shows-that-impaired-bone-mineral-status-and-metabolism-are-found-in-non-mosaic-triple-x-syndrome
#2
Stefano Stagi, Mariarosaria Di Tommaso, Perla Scalini, Elena Sandini, Fabrizio Masoni, Francesco Chiarelli, Alberto Verrotti, Sabrina Giglio, Silvia Romano, Maurizio de Martino
AIM: The effect of a supernumerary X chromosome on bones has not been reported and this study evaluated bone mineral status and metabolism in non-mosaic triple X syndrome. METHODS: This cross-sectional study comprised 19 girls, with a median age of 10.9 years, with nonmosaic triple X syndrome and a control group matched for age and body size. We studied ionised and total calcium, phosphate, parathyroid hormone (PTH), 25-hydroxyvitamin D (25(OH)D), 1,25-dihydroxyvitamin D, osteocalcin, bone alkaline phosphatase levels and urinary deoxypyridinoline concentrations...
January 15, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28062178/testicular-shear-wave-elastography-in-normal-and-infertile-men-a-prospective-study-on-601-patients
#3
Laurence Rocher, Aline Criton, Jean-Luc Gennisson, Vincent Izard, Sophie Ferlicot, Mickael Tanter, Gerard Benoit, Marie France Bellin, Jean-Michel Correas
Our aim in the study described here was to prospectively establish the feasibility of using and reproducibility of testicular shear-wave elastography in the assessment of testicular stiffness in 62 normal patients and 539 infertile men with obstructive azoospermia (OA), non-Klinefelter syndrome non-obstructive azoospermia (non-KS NOA), Klinefelter syndrome NOA (KS NOA), oligoasthenoteratozoospermia (OAT) or a left varicocele. The feasibility rate was 96.9%, with an intra-class correlation coefficient of 0.85 (95% confidence interval: 0...
January 3, 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/28061524/prevalence-of-small-testicular-hyperechogenic-foci-in-subgroups-of-382-non-vasectomized-azoospermic-men-a-retrospective-cohort-study
#4
J Fedder
Testicular hyperechogenic foci (THF) are associated with Klinefelter's syndrome, cryptorchidism, infertility, and testicular germ cell neoplasia. The aims of the study were to evaluate THF in relation to etiology of azoospermia and to Sertoli cell dysfunction. The structures inside the scrotum of consecutive non-vasectomized, azoospermic were examined by ultrasonography, and hormone (FSH, LH, testosterone, and prolactin), and genetic analyses (karyotype, Y microdeletions, and CFTR mutations) were performed...
January 6, 2017: Andrology
https://www.readbyqxmd.com/read/28029029/obesity-and-hyperglycemia-in-korean-men-with-klinefelter-syndrome-the-korean-endocrine-society-registry
#5
Seung Jin Han, Kyung Soo Kim, Wonjin Kim, Jung Hee Kim, Yong Ho Lee, Ji Sun Nam, Ji A Seo, Bu Kyung Kim, Jihyun Lee, Jin Ook Chung, Min Hee Kim, Tae Seo Sohn, Han Seok Choi, Seong Bin Hong, Yoon Sok Chung
BACKGROUND: The aim of this study was to investigate the prevalence of obesity in Korean men with Klinefelter syndrome (KS) and the associated risk factors for obesity and hyperglycemia. METHODS: Data were collected retrospectively from medical records from 11 university hospitals in Korea between 1994 and 2014. Subjects aged ≥18 years with newly diagnosed KS were enrolled. The following parameters were recorded at baseline before treatment: chief complaint, height, weight, fasting glucose level, lipid panel, blood pressure, testosterone, luteinizing hormone, follicle-stimulating hormone, karyotyping patterns, and history of hypertension, diabetes, and dyslipidemia...
December 2016: Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28029025/klinefelter-syndrome-and-metabolic-disorder
#6
EDITORIAL
Ji Cheol Bae
No abstract text is available yet for this article.
December 2016: Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28028824/clinical-question-should-we-be-offering-fertility-preservation-by-surgical-sperm-retrieval-to-men-with-klinefelter-s-syndrome
#7
Kevin McEleny, Tim Cheetham, Richard Quinton
The diagnosis of Klinefelter's syndrome was made at 11 years of age. The patient was born normally at full term and, although his mother noticed occasions when he was "different" from his siblings, he encountered no major problems until 6-7 years of age when he gained weight excessively and began exhibiting "difficult" behaviour with delayed motor and neurocognitive milestones. Following his presentation to children's community services with pertussis aged 10 these developmental issues began to be explored, culminating in his karyotype being checked...
December 27, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27997249/dosage-of-sex-chromosomal-genes-in-blood-deposited-on-filter-paper-for-neonatal-screening-of-sex-chromosome-aneuploidy
#8
Luis Daniel Campos-Acevedo, Marisol Ibarra-Ramirez, José de Jesús Lugo-Trampe, Michelle de Jesús Zamudio-Osuna, Iris Torres-Muñoz, Ma Del Roble Velasco-Campos, Luz Rojas-Patlan, Irám Pablo Rodríguez-Sánchez, Laura Elia Martínez-de-Villarreal
AIMS: In this study, we examined the doses of the stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY genes to establish a protocol for using peripheral blood samples deposited on filter paper for the screening of sex chromosome aneuploidy in neonates. We also measured correlations with karyotypes to assess this method as a neonatal screening strategy. MATERIALS AND METHODS: This was an observational, descriptive, comparative blind study...
December 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27921326/correlation-of-genetic-results-with-testicular-histology-hormones-and-sperm-retrieval-in-nonobstructive-azoospermia-patients-with-testis-biopsy
#9
W Liu, X Gao, G Ma, L Yan, T Chen, T Li, R-M Yu, J-L Ma
To investigate the frequency and types of genetic results in different testicular histology of patients with nonobstructive azoospermia (NOA), and correlated with hormones and sperm retrieval (SR), a retrospective study was conducted in 286 Chinese NOA patients who underwent testis biopsy and 100 age-matched fertile men as the control group. Chromosome karyotype analyses were performed by the peripheral blood chromosome G-band detection method. Screening of Y chromosome microdeletions of azoospermia factor (AZF) region was performed by polymerase chain reaction (PCR) amplification of 11 sequence-tagged sites (STS)...
December 6, 2016: Andrologia
https://www.readbyqxmd.com/read/27856173/fertility-in-disorders-of-sex-development-a-review
#10
REVIEW
J P Van Batavia, T F Kolon
INTRODUCTION: Disorders of sex development (DSD) are a heterogeneous group of complex conditions that can affect chromosomal, gonadal, and/or phenotypical sex. In addition to impacts on internal and external genitalia,these conditions can affect fertility potentialto various degrees. In this review we discuss fertility issues including gonadalpreservation and reproductive outcomes based on specific DSD conditions. METHODS AND MATERIALS: A systematic literature review was performed on Embase(™), PubMed(®), and Google Scholar(™) for disordersof sex development and infertility...
December 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27832510/the-impact-of-living-with-klinefelter-syndrome-a-qualitative-exploration-of-adolescents-and-adults
#11
Amy Turriff, Ellen Macnamara, Howard P Levy, Barbara Biesecker
Klinefelter syndrome (XXY) is a common yet significantly underdiagnosed condition with considerable medical, psychological and social implications. Many health care providers lack familiarity with XXY, resulting in medical management challenges and a limited understanding of the personal impact of the condition. Genetic counselors benefit from understanding the challenges adolescents and men with XXY face to effectively address their medical and psychosocial needs. The purpose of this study was to understand the impact of living with XXY as an adolescent or an adult...
November 10, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27818033/does-varicocelectomy-improve-semen-analysis-outcomes-in-adolescents-without-testicular-asymmetry
#12
David I Chu, Stephen A Zderic, Aseem R Shukla, Arun K Srinivasan, Gregory E Tasian, Dana A Weiss, Christopher J Long, Douglas A Canning, Thomas F Kolon
PURPOSE: The main indications for adolescent varicocelectomy are testicular hypotrophy or pain. However, we have previously shown that both serial total testicular volume and volume differential are weakly associated with semen quality. The ultimate patient goal is paternity, but semen analysis is critical to appropriate management of varicocele. We hypothesize that varicocelectomy improves total motile count (TMC) among patients who only have abnormal semen analysis (SA) parameters, but not among those with potential hormonal dysfunction such as Klinefelter syndrome or cryptorchidism...
October 26, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27813593/case-report-case-study-of-a-patient-presenting-both-type-ii-bipolar-affective-disorder-and-klinefelter-syndrome
#13
H Delavenne, J M Khoury, F Thibaut, F D Garcia
Klinefelter syndrome (KS) is the most common sex chromosomal disorder with an estimated prevalence of 1 in 500-1000. Increased incidences of anxiety, depression, substance abuse, psychotic and behavioral disorders, and sexual disorders have been reported in patients with KS. The aim of this case study was to report a case of a man with untreated KS who was also diagnosed with type II bipolar disorder. This case report raises awareness regarding psychiatric diagnoses that may be associated with such a highly prevalent condition...
October 17, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27802097/effects-of-oxandrolone-on-cardiometabolic-health-in-boys-with-klinefelter-syndrome-a-randomized-controlled-trial
#14
Shanlee M Davis, Matthew Cox-Martin, Martha Bardsley, Karen Kowal, Philip S Zeitler, Judith L Ross
CONTEXT: Klinefelter syndrome (KS) is a common condition in males resulting in androgen deficiency and cardiometabolic diseases. These conditions are likely related and may be present in pre-pubertal boys with KS. OBJECTIVE: To determine if supplemental low-dose androgen has a beneficial effect on body composition and other cardiometabolic risk factors in pre-pubertal boys with KS. DESIGN, SETTING AND PARTICIPANTS: Secondary analysis of a randomized, double-blind, placebo-controlled clinical trial of oxandrolone between 2007 and 2011 at an academic referral center...
November 1, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27800296/klinefelter-syndrome-with-poor-risk-extragonadal-germ-cell-tumor
#15
Jeremy A Konheim, Jonathan A Israel, Scott E Delacroix
Germ cell tumors are the most common malignancy in men aged 15-35 years old, with a small percentage presenting in an extragonadal location. These tumors are seldom identified in the gastrointestinal tract. There is increased risk of extragonadal germ cell tumors (EGCT) in men with Klinefelter syndrome (KS). We report a rare case of a 37-year-old male with KS and EGCT discovered in the duodenum and pelvis. After treatment with Bleomycin-Etoposide-Cisplatin (BEP), he developed growing teratoma syndrome (GTS) and myelodysplasia...
January 2017: Urology Case Reports
https://www.readbyqxmd.com/read/27790464/cytogenetic-analysis-for-suspected-chromosomal-abnormalities-a-five-years-experience
#16
Sunil Kumar Polipalli, Vijay Kumar Karra, Ankur Jindal, Madhavi Puppala, Pratiksha Singh, Kanchan Rawat, Seema Kapoor
INTRODUCTION: Chromosomal abnormalities are the results of alterations in the number or structure of chromosomes causing significant human morbidity and mortality. They are responsible for a large proportion of miscarriages, developmental delay, disorders of sexual development, congenital malformations and mental retardation. AIM: The aim of this study was to describe the prevalence of different chromosomal abnormalities in North Indian patients referred for cytogenetic analysis...
September 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27785898/outcome-of-intracytoplasmic-sperm-injection-using-fresh-and-cryopreserved-thawed-test%C3%A4-cular-spermatozoa-in-83-azoospermic-men-with-klinefelter-syndrome
#17
Kubilay Vicdan, Cem Akarsu, Eran Sözen, Burcu Buluç, Arzu Vicdan, Yıldırım Yılmaz, Kutay Biberoğlu
AIM: To report the outcome of intracytoplasmic sperm injection (ICSI) cycles using fresh or cryopreserved-thawed testicular spermatozoa of men with Klinefelter syndrome (KS). METHODS: Medical records of 83 azoospermic men with KS who underwent testicular sperm extraction (TESE) were reviewed. The clinical parameters for predicting sperm retrieval and fertilization, implantation, pregnancy and live birth rates of ICSI cycles in these patients were evaluated. RESULTS: A total of 88 TESE procedures were performed with sperm retrieval rates of 39...
November 2016: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/27772553/cav3-mutation-in-a-patient-with-transient-hyperckemia-and-myalgia
#18
Anna Macias, Tomasz Gambin, Przemyslaw Szafranski, Shalini N Jhangiani, Anna Kolasa, Ewa Obersztyn, James R Lupski, Pawel Stankiewicz, Anna Kaminska
Mutations in caveolin-3 (CAV3) can lead to different clinical phenotypes affecting skeletal or cardiac muscles. Here, we describe a patient with Klinefelter syndrome, ulcerative colitis and Sjögren syndrome, who developed transient hyperCKemia, myalgia and mild muscular weakness. Using whole exome sequencing (WES), a missense mutation G169A was found in the CAV3 gene. In addition, we identified a homozygous frameshift deletion in MS4A12 that may contribute to inflammatory bowel disease, further demonstrating usefulness of WES in dual molecular diagnoses...
November 2016: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/27743676/-social-cognition-disorders-in-klinefelter-syndrome-a-specific-phenotype-ks
#19
M-N Babinet, C Rigard, É Peyroux, A-R Dragomir, I Plotton, H Lejeune, C Demily
INTRODUCTION: The Klinefelter syndrome (KS) is a genetic condition characterized by an X supernumerary sex chromosome in males. The syndrome is frequently associated with cognitive impairment. Indeed, the different areas of the executive sphere can be affected such as inhibition, cognitive flexibility but also attentional and visual-spatial domain. Social cognition disorders, predominantly on emotional recognition processes, have also been documented. In addition, the syndrome may be associated with psychiatric symptoms...
October 12, 2016: L'Encéphale
https://www.readbyqxmd.com/read/27726092/a-combined-form-of-hypothyroidism-in-pubertal-patients-with-non-mosaic-klinefelter-syndrome
#20
Natascia Tahani, Gilda Ruga, Simona Granato, Matteo Spaziani, Francesca Panimolle, Antonella Anzuini, Andrea Lenzi, Antonio Francesco Radicioni
Klinefelter syndrome has been associated with thyroid abnormalities, the genesis of which is not yet fully clear. The aim of this study was to evaluate thyroid function in Klinefelter syndrome subjects during the pubertal period. Chemiluminescent microparticle immunoassay was used to analyze Thyroid-Stimulating Hormone, fT3 and fT4 concentration in serum samples from 40 Klinefelter syndrome pubertal boys with classic 47,XXY karyotype and 157 healthy age-matched controls. 13 Klinefelter syndrome patients also underwent Thyrotropin-Releasing Hormone testing to evaluate hypothalamic-pituitary function...
October 11, 2016: Endocrine
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