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Klinefelter Syndrome

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https://www.readbyqxmd.com/read/27921326/correlation-of-genetic-results-with-testicular-histology-hormones-and-sperm-retrieval-in-nonobstructive-azoospermia-patients-with-testis-biopsy
#1
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
#2
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...
November 3, 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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27709101/klinefelter-syndrome-fertility-considerations-and-gaps-in-knowledge
#13
COMMENT
Leena Nahata, Richard N Yu, Laurie E Cohen
No abstract text is available yet for this article.
July 2016: Translational pediatrics
https://www.readbyqxmd.com/read/27687508/sperm-retrieval-rate-and-pregnancy-rate-in-infertile-couples-undergoing-in-vitro-fertilisation-and-testicular-sperm-extraction-for-non-obstructive-azoospermia-in-hong-kong
#14
J Ky Ko, J Chai, V Cy Lee, R Hw Li, E Lau, K L Ho, P C Tam, W Sb Yeung, P C Ho, E Hy Ng
OBJECTIVE: There are currently no local data on the sperm retrieval and pregnancy rates in in-vitro fertilisation and testicular sperm extraction cycles, especially with regard to the presence of genetic abnormalities. This study aimed to determine the sperm retrieval and pregnancy rates in infertile couples who underwent in-vitro fertilisation and testicular sperm extraction for non-obstructive azoospermia. METHODS: This retrospective case series was conducted at a tertiary assisted reproduction unit in Hong Kong...
December 2016: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/27685529/chronic-myeloid-leukemia-in-patient-with%C3%A2-the%C3%A2-klinefelter-syndrome
#15
S V Andreieva, K V Korets, O A Kyselova, O E Ruzhinska, I M Serbin
AIM: Genetic inborn along with acquired diseases arise due to the lesions in genome of multipotent hematopoietic stem cells. The aim was to study an influence of constitutional anomaly, Klinefelter syndrome, and additional structural rearrangements on the BCR-ABL tyrosine kinase inhibitor targeted therapy efficacy. MATERIAL AND METHODS: We describe a 32-year-old male patient with chronic myeloid leukemia (CML) who was detected to have sex chromosomal abnormality during evaluation for Philadelphia chromosome...
September 2016: Experimental Oncology
https://www.readbyqxmd.com/read/27659917/sexual-dysfunction-in-klinefelter-s-syndrome-patients
#16
H El Bardisi, A Majzoub, S Al Said, H Alnawasra, Z Dabbous, M Arafa
Klinefelter's syndrome (KS) is the most common chromosomal abnormality in men with infertility and hypogonadism. Although its influence on fertility has been extensively investigated, very few studies assessed the sexual function of patients with KS. Our aim was to assess the prevalence of sexual dysfunction in patients with KS and investigate possible aetiological factors for reported findings. Medical records of 53 patients with KS were retrospectively reviewed and compared to 75 age-matched control subjects who were prospectively recruited...
September 23, 2016: Andrologia
https://www.readbyqxmd.com/read/27648416/cytogenetic-investigation-in-a-group-of-ten-infertile-men-with-non-obstructive-azoospermia-first-algerian-46-xx-syndrome
#17
Meriem Baziz, Zohra Hamouli-Said, Ilham Ratbi, Mohamed Habel, Soukaina Guaoua, Aziza Sbiti, Abdelaziz Sefiani
BACKGROUND: In Algeria, the data on infertility and its various causes are rare. Recently, the introduction of assisted reproduction has allowed expecting that 300000 couples, which represent 7% of couples of reproductive age, face difficulty conceiving a child. Knowing that most idiopathic cases are likely to be due to chromosomal abnormalities, we aimed to investigate genetic defects by karyotype analysis in Algerian infertile men, using peripheral blood lymphocytes. METHODS: A cytogenetic study was conducted on 10 men from infertile couples by Karyotype analysis of R-banding performed by lymphocyte culture technique...
June 2016: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/27644703/klinefelter-syndrome-ks-genetics-clinical-phenotype-and-hypogonadism
#18
M Bonomi, V Rochira, D Pasquali, G Balercia, E A Jannini, A Ferlin
Klinefelter Syndrome (KS) is characterized by an extreme heterogeneity in its clinical and genetic presentation. The relationship between clinical phenotype and genetic background has been partially disclosed; nevertheless, physicians are aware that several aspects concerning this issue are far to be fully understood. By improving our knowledge on the role of some genetic aspects as well as on the KS, patients' interindividual differences in terms of health status will result in a better management of this chromosomal disease...
September 19, 2016: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/27637014/gonadal-function-is-associated-with-cardiometabolic-health-in-pre-pubertal-boys-with-klinefelter-syndrome
#19
S Davis, N Lahlou, M Bardsley, M-C Temple, K Kowal, L Pyle, P Zeitler, J Ross
The most common sex chromosome aneuploidy, Klinefelter syndrome (KS), is associated with primary gonadal failure and increased morbidity and mortality from cardiometabolic disorders in adulthood. Children with KS also have a high prevalence of metabolic syndrome (MetS) features. To assess the relationship of gonadal and cardiometabolic function in children with KS, we evaluated serum hormones [gonadotropins, inhibin B (INHB), anti-mullerian hormone (AMH), total testosterone (TT)], and features of MetS (waist circumference, fasting lipid panel, fasting blood glucose (FBG), and blood pressure) in 93 pre-pubertal boys with KS age 4-12 years (mean 7...
September 16, 2016: Andrology
https://www.readbyqxmd.com/read/27617393/macular-detachment-associated-with-anomalous-optic-nerves-and-dural-ectasia-in-49-xxxxy-syndrome
#20
Amir R Hajrasouliha, Heather E Moss, Pejman J Maralani, Lawrence Kaufman, Michael A Grassi
PURPOSE: To present a case of a patient with XXXXY syndrome, anomalous optic nerves, and dural ectasia in conjunction with macular detachment. METHODS: Case report. RESULTS: A 3-year-old boy with XXXXY chromosomal abnormality presented with bilateral maculopathy. On evaluation, he was found to have anomalous optic disks with serous detachment of the left eye. Magnetic resonance imaging of the brain revealed bilateral optic nerve dural ectasia without evidence of elevated intracranial pressure...
September 8, 2016: Retinal Cases & Brief Reports
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