Genomes and Genes
Summary: A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Publications219 found, 100 shown here
- Klinefelter's syndromeFabio Lanfranco
Institute of Reproductive Medicine of the University of Munster, Domagkstrasse 11, D 48129 Munster, Germany
Lancet 364:273-83. 2004..The genetic implications of the fertilisation procedures, including pretransfer or prenatal genetic assessment, must be explained to patients and their partners...
- Klinefelter syndrome and other sex chromosomal aneuploidiesJeannie Visootsak
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30033, USA
Orphanet J Rare Dis 1:42. 2006The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY...
- Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndromeJonathan D Schiff
The James Buchanan Brady Foundation, Department of Urology, and The Center for Reproductive Medicine and Infertility, The New York Weill Cornell Medical Center, and the Population Council, New York, New York 10021, USA
J Clin Endocrinol Metab 90:6263-7. 2005The aim of this study was to report the successful fertility treatment of men with Klinefelter syndrome using testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI).
- Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry studyAnders Bojesen
Medical Department M, Diabetes and Endocrinology, Aarhus Kommunehospital, Aarhus University Hospital, Denmark
J Clin Endocrinol Metab 88:622-6. 2003The objective of this study was to describe the prevalence of Klinefelter syndrome (KS) prenatally and postnatally in Denmark and determine the influence of maternal age...
- Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndromeJudith L Ross
Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19107, USA
Horm Res 64:39-45. 2005b>Klinefelter syndrome (KS) is characterized by the karyotype 47,XXY. In this study, we evaluated the physical and testicular failure phenotypes of infants and young boys with KS.
- Aberrant recombination and the origin of Klinefelter syndromeN S Thomas
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK
Hum Reprod Update 9:309-17. 2003..However, Klinefelter syndrome is a notable exception, as nearly one-half of all cases derive from paternal non-disjunction...
- The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparisonAmy S Herlihy
Murdoch Childrens Research Institute, Melbourne, Vic, Australia
Med J Aust 194:24-8. 2011To determine the prevalence and diagnosis rates of Klinefelter syndrome (KS) in Victoria, Australia, and compare these to previous international findings.
- Mortality in patients with Klinefelter syndrome in Britain: a cohort studyAnthony J Swerdlow
Section of Epidemiology, Brookes Lawley Building, Institute of Cancer Research, Sutton, Surrey SM2 5NG, United Kingdom
J Clin Endocrinol Metab 90:6516-22. 2005b>Klinefelter syndrome is characterized by hypogonadism and infertility, consequent on the presence of extra X chromosome(s)...
- 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndromeNicole Tartaglia
Section of Neurodevelopmental Behavioral Pediatrics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, USA
Acta Paediatr 100:851-60. 2011..While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and ..
- An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndromeJudith L Ross
Department of Pediatrics, Thomas Jefferson University, 1025 Walnut Street, Suite 726, Philadelphia, PA 19107, USA
Dev Disabil Res Rev 15:309-17. 2009..to contrast the cognitive phenotypes in boys with 47,XYY (XYY) karyotype and boys with 47,XXY karyotype [Klinefelter syndrome, (KS)], who share an extra copy of the X-Y pseudoautosomal region but differ in their dosage of strictly ..
- Natural history of seminiferous tubule degeneration in Klinefelter syndromeLise Aksglaede
Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Hum Reprod Update 12:39-48. 2006b>Klinefelter syndrome (47,XXY) is characterized by small, firm testis, gynaecomastia, azoospermia and hypergonadotropic hypogonadism. Degeneration of the seminiferous tubules in 47,XXY males is a well-described phenomenon...
- Klinefelter syndrome in clinical practiceAnders Bojesen
Department of Clinical Genetics, Vejle Hospital, Aarhus University Hospital, Denmark
Nat Clin Pract Urol 4:192-204. 2007b>Klinefelter syndrome is the most common sex-chromosome disorder; it affects approximately one in every 660 men...
- Serum concentrations of Anti-Müllerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidismLise Aksglaede
University Department of Growth and Reproduction, Rigshospitalet, Copenhagen, Denmark
Acta Paediatr 100:839-45. 2011..We therefore aimed at determining circulating AMH concentrations in patients with 47,XXY Klinefelter syndrome (KS) with or without cryptorchidism.
- Is the prevalence of Klinefelter syndrome increasing?Joan K Morris
Centre for Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, Barts and The London, Queen Mary s School of Medicine and Dentistry, Charterhouse Square, London EC1M 6BQ, UK
Eur J Hum Genet 16:163-70. 2008....
- Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnosesAnders Bojesen
Medical Department M Diabetes and Endocrinology, Aarhus Sygehus, Aarhus University Hospital, Noerrebrogade 42 44, DK 8000 Aarhus C, Denmark
J Clin Endocrinol Metab 91:1254-60. 2006b>Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder in man; it affects approximately one in 660 men and is a common cause of hypogonadism and infertility...
- Characterization of loss-of-inactive X in Klinefelter syndrome and female-derived cancer cellsTakahiro Kawakami
Department of Urology, Shiga University of Medical Science, Otsu, Shiga 520 2192, Japan
Oncogene 23:6163-9. 2004The increased risk of several types of cancer in Klinefelter syndrome (47XXY) suggests that the extra X chromosome may be involved in the tumorigenesis associated with this syndrome...
- Social behavior and autism traits in a sex chromosomal disorder: Klinefelter (47XXY) syndromeSophie van Rijn
Department of Experimental Psychology, Helmholtz Instituut, Universiteit Utrecht, Utrecht, The Netherlands
J Autism Dev Disord 38:1634-41. 2008Although Klinefelter syndrome (47,XXY) has been associated with psychosocial difficulties, knowledge of the social behavioral phenotype is limited. We examined specific social abilities and autism traits in Klinefelter syndrome...
- Klinefelter syndrome: clinical and molecular aspectsJacques C Giltay
University Medical Centre Utrecht, Department of Medical Genetics, Utrecht, The Netherlands
Expert Rev Mol Diagn 10:765-76. 2010b>Klinefelter syndrome is the most common chromosome abnormality in humans. The estimated prevalence is one in 500 to one in 1000 males but due to the widely variable and often aspecific features, only one in four cases are recognized...
- Extragonadal germ cell tumors are often associated with Klinefelter syndromeDavid Aguirre
Department of Pathology Hospital General de México School of Medicine Universidad Nacional Autonoma de México, Mexico City
Hum Pathol 37:477-80. 2006b>Klinefelter syndrome is a well documented abnormality of sex differentiation, with an incidence of 1 in 600 newborn males...
- Prader-Willi and Klinefelter syndrome: a coincidence or not?Pradeep C Vasudevan
Department of Clinical Genetics, University Hospitals of Leicester, NHS Trust Leicester Royal Infirmary, Leicester, Leicestershire, UK
Clin Dysmorphol 16:127-9. 2007..He is possibly the youngest to be reported with both Prader-Willi syndrome and Klinefelter syndrome. We have shown that the extra X chromosome causing Klinefelter syndrome is paternal in origin and Prader-..
- Clinical comparison of successful and failed microdissection testicular sperm extraction in patients with nonmosaic Klinefelter syndromeMinoru Koga
Department of Urology, Osaka Central Hospital, Osaka, Japan
Urology 70:341-5. 2007..has become the treatment of choice for patients with nonobstructive azoospermia related to nonmosaic Klinefelter syndrome (KS) who want to father children...
- Immunoexpression of androgen receptor and nine markers of maturation in the testes of adolescent boys with Klinefelter syndrome: evidence for degeneration of germ cells at the onset of meiosisAnne M Wikström
Hospital for Children and Adolescents, Helsinki University Central Hospital, P O Box 281, 00029 Helsinki, Finland
J Clin Endocrinol Metab 92:714-9. 2007The pathogenesis and mechanisms behind the degeneration of the seminiferous tubules in testes of subjects with Klinefelter syndrome (KS) are yet unknown.
- Prognostic value of the clinical and laboratory evaluation in patients with nonmosaic Klinefelter syndrome who are receiving assisted reproductive therapyIgael Madgar
Male Infertility, Department of Urology and Obstetrics and Gynecology, The Chaim Sheba Medical Center, Tel Hashomer, Israel
Fertil Steril 77:1167-9. 2002..To characterize clinical and laboratory findings in nonmosaic 47,XXY patients that may help to predict spermatogenetic activity in their testicles...
- Clinical and diagnostic features of patients with suspected Klinefelter syndromeAxel Kamischke
Institute of Reproductive Medicine and the Institute of Human Genetics of the University, Munster, Germany
J Androl 24:41-8. 2003b>Klinefelter syndrome, with an incidence of 1:600 male newborns, is the most frequent form of male hypogonadism. However, despite its relatively high frequency, the syndrome is often overlooked...
- Considerations for androgen therapy in children and adolescents with Klinefelter syndrome (47, XXY)Alan D Rogol
The James Whitcomb Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN, USA
Pediatr Endocrinol Rev 8:145-50. 2010..as the dose is escalated more effects may be noted in the behavioral sphere, especially in adolescents with Klinefelter syndrome compared to those who receive replacement therapy with testosterone for other purposes, for example, ..
- Successful testicular sperm extraction in Korean Klinefelter syndromeJu Tae Seo
Department of Urology, Laboratory of Reproductive Biology and Infertility, Samsung Cheil Hospital and Women s Healthcare Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Urology 64:1208-11. 2004To evaluate the clinical features of Korean Klinefelter syndrome (KS) and the outcome of intracytoplasmic sperm injection using fresh testicular spermatozoa obtained by testicular sperm extraction from these infertile men...
- Inhibin B and anti-Müllerian hormone, but not testosterone levels, are normal in infants with nonmosaic Klinefelter syndromeNajiba Lahlou
Laboratoire de Biologie Hormonale, Hopital Saint Vincent de Paul, 75014 Paris, France
J Clin Endocrinol Metab 89:1864-8. 2004b>Klinefelter syndrome is a major cause of infertility in the male...
- Klinefelter syndrome: expanding the phenotype and identifying new research directionsJoe Leigh Simpson
Baylor College of Medicine, Houston, Texas 77030, USA
Genet Med 5:460-8. 2003The purpose of this study is to summarize new data on etiology and clinical features of Klinefelter syndrome in order to derive research priorities.
- Socioeconomic trajectories affect mortality in Klinefelter syndromeAnders Bojesen
Department of Clinical Genetics, Vejle Hospital, Sygehus Lillebaelt, 7100 Vejle, Denmark
J Clin Endocrinol Metab 96:2098-104. 2011b>Klinefelter syndrome (KS) is associated with male infertility, hypogonadism, and learning disability. Morbidity and mortality are increased and the causes behind remain unknown...
- Morbidity and mortality in Klinefelter syndrome (47,XXY)Anders Bojesen
Department of Clinical Genetics, Vejle Hospital, Sygehus Lillebaelt, Denmark
Acta Paediatr 100:807-13. 2011b>Klinefelter syndrome (KS) (47,XXY) is the most common sex chromosome disorder in man and is a relatively common cause of male infertility and hypogonadism...
- Assessment of Leydig and Sertoli cell functions in infants with nonmosaic Klinefelter syndrome: insulin-like peptide 3 levels are normal and positively correlated with LH levelsSylvie Cabrol
Department of Pediatric Endocrinology, Hopital Armand Trousseau, Assistance Publique Hopitaux de Paris, Pierre and Marie Curie University, 75012 Paris, France
J Clin Endocrinol Metab 96:E746-53. 2011b>Klinefelter syndrome (KS) is the most common sex chromosome disorder and a major cause of male infertility...
- Insulin resistance and metabolic syndrome in prepubertal boys with Klinefelter syndromeMartha Z Bardsley
Pediatrics, Thomas Jefferson University Nemours, Philadelphia, PA, USA
Acta Paediatr 100:866-70. 2011To investigate risk factors for metabolic syndrome in prepubertal boys with Klinefelter syndrome.
- Bone mineral density in Klinefelter syndrome is reduced and primarily determined by muscle strength and resorptive markers, but not directly by testosteroneA Bojesen
Department of Clinical Genetics, Vejle Hospital, DK 7100 Vejle, Denmark
Osteoporos Int 22:1441-50. 2011b>Klinefelter syndrome (KS) patients have lower bone mineral density (BMD) at the spine, hip and forearm compared to healthy subjects, but frank osteoporosis is not common...
- Structural and functional neuroimaging in Klinefelter (47,XXY) syndrome: a review of the literature and preliminary results from a functional magnetic resonance imaging study of languageKyle Steinman
Division of Child Neurology, Department of Neurology, University of California San Francisco, 350 Parnassus Ave, Suite 609, San Francisco, CA 94117, USA
Dev Disabil Res Rev 15:295-308. 2009....
- Clinical review: Klinefelter syndrome--a clinical updateKristian A Groth
Department of Molecular Medicine, Aarhus University Hospital, DK 8000 Aarhus C, Denmark
J Clin Endocrinol Metab 98:20-30. 2013Recently, new clinically important information regarding Klinefelter syndrome (KS) has been published...
- Body composition, metabolic syndrome and type 2 diabetes in Klinefelter syndromeClaus H Gravholt
Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus Sygehus NBG, Denmark
Acta Paediatr 100:871-7. 2011b>Klinefelter syndrome (KS) affects 1:660 men, making it the most common sex-chromosome disorder in man, and is a common cause of infertility, hypogonadism and learning disability...
- Fire-settng behavior associated with Klinefelter syndromeAriel Eytan
Geneva University Hospitals, Department of Psychiatry, Hopital Cantonal, Unité UPHA 5DL, Switzerland
Int J Psychiatry Med 32:395-9. 2002..During the following hospitalization in a psychiatric unit, a genetic syndrome, namely Klinefelter syndrome (47,XXY), was diagnosed...
- Klinefelter syndromeAnne M Wikström
HUCH, Hospital for Children and Adolescents, Helsinki University Central Hospital, P O Box 281, FI 00029 Helsinki, Finland
Best Pract Res Clin Endocrinol Metab 25:239-50. 2011b>Klinefelter syndrome (KS) is the most common genetic form of male hypogonadism, but overt phenotype becomes evident only after puberty...
- Are adolescent boys with Klinefelter syndrome androgen deficient? A longitudinal study of Finnish 47,XXY boysAnne M Wikström
Hospital for Children and Adolescents, Helsinki University Central Hospital, University of Helsinki, 00029 Helsinki, Finland
Pediatr Res 59:854-9. 2006Testosterone (T)-substitution therapy is widely used in adult patients with Klinefelter syndrome (KS) to prevent symptoms and sequels of androgen deficiency, but it is currently unknown if adolescent boys with KS benefit from early T ..
- A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor geneA M Ottesen
Department of Growth and Reproduction, Juliane Marie Centre, Section GR 5064, The National University Hospital of Copenhagen, DK 2100, Copenhagen, Denmark
Mol Hum Reprod 13:745-50. 2007Due to the high prevalence and variable phenotype of patients with Klinefelter syndrome, there is a need for a robust and rapid screening method allowing early diagnosis...
- Genetic features of the X chromosome affect pubertal development and testicular degeneration in adolescent boys with Klinefelter syndromeAnne M Wikström
Hospital for Children and Adolescents, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland
Clin Endocrinol (Oxf) 65:92-7. 2006..the X chromosome influence growth, pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome (KS)...
- Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndromeN Gruchy
Laboratoire de Cytogenetique Prenatale, Service de Genetique, CHU Caen Cote de Nacre, UFR de Médecine Caen, F 14033 Caen cedex 9, France
Hum Reprod 26:2570-5. 2011b>Klinefelter syndrome (KS), a common sex chromosome aneuploidy (47,XXY) is diagnosed prenatally with an incidence of 0.15%. The diagnosis is generally incidental, since there are no typical malformations on ultrasound (US)...
- Antiphospholipid syndrome in a 21-year-old with Klinefelter syndromeGeorge R Mount
Rheumatology Service, Walter Reed Army Medical Center, NW, Washington, DC 20307, USA
J Clin Rheumatol 15:27-8. 2009We describe a patient with Klinefelter syndrome presenting with recurrent arterial thromboses secondary to the antiphospholipid syndrome...
- Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndromeJudith L Ross
Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19107, USA
Pediatrics 129:769-78. 2012..contrast the behavioral and social phenotypes including a screen for autistic behaviors in boys with 47,XYY syndrome (XYY) or 47,XXY Klinefelter syndrome (KS) and controls and investigate the effect of prenatal diagnosis on the phenotype.
- Familiar spastic paraplegia presenting in a boy with Klinefelter syndrome--case reportSajra Uzicanin
Pediatric Clinic, University Clinical Center Sarajevo
Med Arh 61:52-3. 2007In this case report, the boy with familiar spastic paraplegia, the relatively rare genetic disorder and Klinefelter syndrome that was found during investigation, has been presented...
- Preserved fertility in a non-mosaic Klinefelter patient with a mutation in the fibroblast growth factor receptor 3 gene: case reportA Juul
Department of Growth and Reproduction GR, Rigshospitalet Section 5064, University of Copenhagen, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
Hum Reprod 22:1907-11. 2007Patients with Klinefelter syndrome (47,XXY) are characterized by eunuchoid body proportions, gynaecomastia, small firm testes and azoospermia...
- Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndromeCarole A Samango-Sprouse
George Washington University of the Health Sciences, Washington, DC, USA
Acta Paediatr 100:861-5. 2011..The aim of this investigation was to ascertain whether an early course of androgen treatment (three injections testosterone enanthate, 25 mg) could have a positive impact on any domains of neurodevelopmental function in boys with 49,XXXXY...
- Serum insulin-like factor 3 levels during puberty in healthy boys and boys with Klinefelter syndromeAnne M Wikström
Hospital for Children and Adolescents, Helsinki University Central Hospital, FI 00029 Helsinki, Finland
J Clin Endocrinol Metab 91:4705-8. 2006..Levels of the Leydig cell-specific hormone insulin-like factor 3 (INSL3) are incompletely characterized in boys during pubertal development...
- The spectrum of the behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome)Nicole Tartaglia
University of Colorado School of Medicine, Department of Pediatrics, and Child Development Unit, The Children s Hospital, Aurora, CO 80045, USA
Pediatr Endocrinol Rev 8:151-9. 2010The behavioral phenotype of 47,XXY (Klinefelter syndrome) includes increased risks for developmental delays, language-based learning disabilities, executive dysfunction/ADHD, and socialemotional difficulties...
- Comparison of adolescents with Klinefelter syndrome according to the circumstances of diagnosis: amniocentesis versus clinical signsCéline M Girardin
CHU Sainte Justine, Endocrinology Service, Montreal, Que, Canada
Horm Res 72:98-105. 2009We compared the phenotype of adolescents with Klinefelter syndrome diagnosed by amniocentesis or postnatally to the general population with a view to evidence-based genetic counselling.
- Assisted reproductive techniques in patients with Klinefelter syndrome: a critical reviewDominik Denschlag
Department of Obstetrics and GynecologyUniversity of Freiburg, Freiburg, Germany
Fertil Steril 82:775-9. 2004..To summarize the existing experience with the use and success rate of assisted reproductive techniques (ART), in particular testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI), in Klinefelter patients...
- Cognitive and motor development during childhood in boys with Klinefelter syndromeJudith L Ross
Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
Am J Med Genet A 146:708-19. 2008The goal of this study was to expand the description of the cognitive development phenotype in boys with Klinefelter syndrome (47,XXY)...
- Novel genetic aspects of Klinefelter's syndromeF Tüttelmann
Institute of Human Genetics, University of Munster, Vesaliusweg 12 14, D 48149 Munster, Germany
Mol Hum Reprod 16:386-95. 2010..Lessons learned from comparisons with normal males and especially females as well as other sex chromosomal aneuploidies are presented. In addition, genetic topics concerning fertility and counseling are discussed...
- Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndromeAndrew R Zinn
McDermott Center for Human Growth and Development, and Department of Internal Medicne, University of Texas Southwestern Medical School, 5323 Harry Hines Boulevard, Dallas, Texas 75390 8591, USA
J Clin Endocrinol Metab 90:5041-6. 2005b>Klinefelter syndrome (KS; 47,XXY karyotype and variants) is characterized by tall stature and testicular failure, with marked variation in severity of the phenotype...
- Spermatogenesis in Klinefelter syndromeR Selice
Department of Histology, Microbiology and Medical Biotechnologies, Section of Clinical Pathology and Center for Male Gamete Cryopreservation, University of Padua, Via Gabelli 63, Padua, Italy
J Endocrinol Invest 33:789-93. 2010b>Klinefelter syndrome (KS) (47,XXY) is the most common sex chromosomal disorder, and it is a frequent form of male hypogonadism and infertility...
- New concepts in Klinefelter syndromeDarius A Paduch
Department of Urology and Reproductive Medicine, Weill Medical College of Cornell University, New York, NY 10065, USA
Curr Opin Urol 18:621-7. 2008b>Klinefelter syndrome, 47,XXY and its variants, is the most common chromosomal aberration among men, with estimated frequency of 1: 500 among newborns...
- Klinefelter syndrome presenting with precocious puberty due to a human chorionic gonadotropin (hCG)-producing mediastinal germinomaSasigarn A Bowden
J Pediatr Endocrinol Metab 19:1371. 2006
- Reproduction in men with Klinefelter syndrome: the past, the present, and the futureDarius A Paduch
Department of Urology and Reproductive Medicine, Weill Medical College of Cornell University, New York, New York 10065, USA
Semin Reprod Med 27:137-48. 2009b>Klinefelter syndrome (KS) is the most common chromosomal aberration in men...
- Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndromeHilgo Bruining
University Medical Centre Utrecht, Department of Child and Adolescent Psychiatry, Heidelberglaan 100, Postbus 85500, 3508 GA, Utrecht, Netherlands
Pediatrics 123:e865-70. 2009b>Klinefelter syndrome is the most frequent chromosomal aneuploidy with a prevalence of 1 in 700. Klinefelter syndrome has been widely associated with cognitive impairment and language problems...
- Proteomic analysis of amniotic fluid in pregnancies with Klinefelter syndrome foetusesAthanasios K Anagnostopoulos
Medical Genetics, Athens University School of Medicine, Athens, Greece
J Proteomics 73:943-50. 2010b>Klinefelter syndrome is a sex chromosomal abnormality (47, XXY karyotype), occurring approximately in 1 in 1000 male live births...
- The cognitive phenotype in Klinefelter syndrome: a review of the literature including genetic and hormonal factorsRichard Boada
Department of Pediatrics, University of Colorado Denver School of Medicine, The Children s Hospital, Aurora, Colorado, USA
Dev Disabil Res Rev 15:284-94. 2009b>Klinefelter syndrome (KS) or 47,XXY occurs in approximately 1 in 650 males. Individuals with KS often present with physical characteristics including tall stature, hypogonadism, and fertility problems...
- Effect of ascertainment and genetic features on the phenotype of Klinefelter syndromeMartha P D Zeger
Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19107, USA
J Pediatr 152:716-22. 2008To describe the Klinefelter Syndrome (KS) phenotype during childhood in a large cohort.
- Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?G Fullerton
Aberdeen Fertility Centre, Aberdeen Maternity Hospital, Aberdeen AB25 2ZN, UK
Hum Reprod 25:588-97. 2010b>Klinefelter syndrome is a common genetic condition. Affected non-mosaic men are azoospermic and have been labelled as infertile...
- Autism spectrum disorder and Klinefelter syndromeP Jha
Division of Child Psychiatry, University of Michigan Hospital, 200 East Hospital Drive, Ann Arbor, MI 48109 0277, USA
Eur Child Adolesc Psychiatry 16:305-8. 2007..However, few detailed case descriptions of patients with KS and autism have not been published...
- The clinical significance of bone mineral density and testosterone levels in Korean men with non-mosaic Klinefelter's syndromeJu Tae Seo
Department of Urology, Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea
BJU Int 99:141-6. 2007....
- Reduced brain perfusion and neurocranial shape abnormalities of the temporal regions in patients with Klinefelter syndromeRoman Junik
Department of Endocrinology and Diabetology Collegium Medicum, Nicolaus Copernicus University Bydgoszcz, Poland
Neuro Endocrinol Lett 26:593-8. 2005In patients with Klinefelter syndrome dissocial behaviour, learning difficulties and low intelligence are common...
- Normal bone mineral content but unfavourable muscle/fat ratio in Klinefelter syndromeL Aksglaede
University Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Arch Dis Child 93:30-4. 2008To evaluate body composition and bone mineral content (BMC) in children and adolescents with Klinefelter syndrome (KS).
- Cancer incidence and mortality in men with Klinefelter syndrome: a cohort studyAnthony J Swerdlow
Institute of Cancer Research, Sutton, Surrey SM2 5NG, United Kingdom
J Natl Cancer Inst 97:1204-10. 2005Men with Klinefelter syndrome have one or more extra X chromosomes and have endocrine abnormalities...
- XXY mice exhibit gonadal and behavioral phenotypes similar to Klinefelter syndromeYanhe Lue
Division of Endocrinology, Department of Medicine, Harbor UCLA Medical Center and Los Angeles Biomedical Research Institute, Box 446, 1000 West Carson Street, Torrance, California 90509, USA
Endocrinology 146:4148-54. 2005b>Klinefelter syndrome (XXY males) is the most common sex chromosome aneuploidy...
- Klinefelter syndromeDaniel J Wattendorf
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 3717, USA
Am Fam Physician 72:2259-62. 2005..This review discusses Klinefelter syndrome.
- Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twinsD Stemkens
Department of Biomedical Genetics, University Medical Center, Utrecht, The Netherlands
Am J Med Genet A 143:1906-11. 2007b>Klinefelter syndrome (KS; 47, XXY) is characterized by increased body height, hypergonadotrophic hypogonadism, and infertility. We describe a patient with a variant KS (47,X,i(Xq),Y) who has a twin brother with a 46,XY karyotype...
- Diagnosis and management of the adolescent boy with Klinefelter syndromeMelanie A Manning
Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, California 94305 5208, USA
Adolesc Med 13:367-74, viii. 2002b>Klinefelter syndrome is the most common sex chromosome disorder, affecting approximately 1/500 to 1/1000 males. The condition results when one or more extra X chromosomes are present in the cells of XY fetuses...
- Agnogenic myeloid metaplasia associated with Klinefelter syndrome: a case reportS Kumar
Division of Hematology and Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Ann Hematol 81:215-8. 2002b>Klinefelter syndrome is the most commonly diagnosed sex chromosome disorder among males. It is usually associated with 47 chromosomes, including two Xs and one Y...
- Double aneuploidy in three Egyptian patients: Down-Turner and Down-Klinefelter syndromesM S Zaki
Clinical Genetics Department, National Research Centre, Cairo, Egypt
Genet Couns 16:393-402. 2005..most of the phenotypic features of Down syndrome as well as variable features characteristic of Turner or Klinefelter syndrome. Cytogenetic studies and fluorescence in situ hybridization (FISH) analysis were carried out for all ..
- Premature fusion and excessive calcification of coronal sutures in patients with Klinefelter syndromeJerzy Kosowicz
Department of Endocrinology and Metabolism, University of Medical Sciences in Poznan, Poznan, Poland
Neuro Endocrinol Lett 27:137-41. 2006The purpose of this paper is to report on radiographic features of the cranial vault abnormalities frequently seen but not yet described in detail in patients with Klinefelter syndrome.
- Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal malesM M Khalifa
Division of Medical Genetics, Department of Pediatrics, Queen s University and Kingston General Hospital, Kingston, Ontario, Canada
Clin Genet 61:49-53. 2002b>Klinefelter syndrome (KS) has not typically been associated with mental retardation (MR), however, in recent years a growing body of evidence suggested that KS boys often experience language deficits and academic difficulties...
- X Chromosomal effects on social cognitive processing and emotion regulation: A study with Klinefelter men (47,XXY)Sophie van Rijn
Department of Psychiatry, Rudolf Magnus Institute for Neuroscience, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands
Schizophr Res 84:194-203. 2006Studying Klinefelter syndrome (47,XXY), a genetically defined disorder characterized by the presence of an additional X chromosome, can reveal insights into genotype-phenotype associations...
- Sperm aneuploidy in fathers of children with paternally and maternally inherited Klinefelter syndromeB Eskenazi
School of Public Health, University of California, Berkeley, CA 94720, USA
Hum Reprod 17:576-83. 2002..It is unclear whether frequency of sperm aneuploidy is associated with risk of fathering children with trisomy...
- Psoriatic arthritis and Klinefelter syndrome: case reportN Melillo
Department of Rheumatology, University of Foggia D Avanzo Hospital, Viale degli Aviatori n 1, Foggia, Italy
Clin Rheumatol 26:443-4. 2007..and other autoimmune disorders with chromosomal abnormalities have been reported, the occurrence of PsA and Klinefelter syndrome has not been reported previously. A case of Klinefelter syndrome and PsA was reported...
- Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndromeS Kenwrick
Addenbrooke s Hospital, Cambridge, UK
Am J Hum Genet 69:1210-7. 2001..Hypomorphic alleles, a 47,XXY karyotype, and somatic mosaicism therefore represent three mechanisms for survival of males carrying a NEMO mutation...
- Unsuspected Klinefelter syndrome diagnosed during oncologic evaluation: a case seriesMargaret M Eberl
Division of Cancer Prevention and Population Sciences, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
J Am Board Fam Pract 18:132-9. 2005b>Klinefelter syndrome is an underdiagnosed chromosomal disorder that has significant implications for health and for medical management...
- Frequency of XY sperm increases with age in fathers of boys with Klinefelter syndromeX Lowe
Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, Livermore, CA 94550, USA
Am J Hum Genet 69:1046-54. 2001..The study group consisted of 38 fathers of boys with Klinefelter syndrome (47, XXY) recruited nationwide, and sperm aneuploidy was assessed using multicolor X-Y-21 sperm FISH ( ..
- X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patientsMichael Zitzmann
Institute of Reproductive Medicine, University of Munster, D 48129 Munster, Germany
J Clin Endocrinol Metab 89:6208-17. 2004b>Klinefelter syndrome is characterized by a vast range of phenotypes related to androgen effects...
- Increased mortality in Klinefelter syndromeAnders Bojesen
Medical Department M Diabetes and Endocrinology, Aarhus Sygehus, Aarhus University Hospital, Denmark
J Clin Endocrinol Metab 89:3830-4. 2004b>Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder in man and is a common cause of hypogonadism. To describe mortality in KS, we conducted an epidemiological study, using Danish registers covering the entire nation...
- Bone mineral density and bone markers in hypogonadotropic and hypergonadotropic hypogonadal men after prolonged testosterone treatmentM De Rosa
Department of Molecular and Clinical Endocrinology and Oncology School of Medicine, University Federico II, Naples, Italy
J Endocrinol Invest 24:246-52. 2001..Therefore, early diagnosis and age-related replacement therapy coupled with a specific treatment for osteoporosis could be useful in preventing future severe bone loss and associated skeletal morbidity...
- Bone mineral density and quantitative ultrasound parameters in patients with Klinefelter's syndrome after long-term testosterone substitutionJ P van den Bergh
Department of Endocrinology, University Hospital Nijmegen, Nijmegen, The Netherlands
Osteoporos Int 12:55-62. 2001..This percentage was even higher for BMAD. QUS parameters were also low in the KS patient group when compared with Dutch control subjects. QUS parameters cannot be used to predict BMD or BMAD in KS patients...
- Automated morphometric study of brain variation in XXY malesDinggang Shen
Section of Biomedical Image Analysis, Department of Radiology, University of Pennsylvania, 3600 Market Street, Suite 380, Philadelphia, PA 19104, USA
Neuroimage 23:648-53. 2004..In addition to the reduction of local volume, overall enlargement of ventricles and overall volume reduction of both white matter and gray matter are also found in XXY males...
- Neuropsychological profiles of adults with Klinefelter syndromeK B Boone
Department of Psychiatry, Harbor UCLA Medical Center, Torrance, CA 90509 2910, USA
J Int Neuropsychol Soc 7:446-56. 2001Children and adolescents with Klinefelter syndrome (XXY) have been reported to show deficits in language processing including VIQ < PIQ and a learning disability in reading and spelling...
- A 47,XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter's syndrome: case reportR Ron-El
IVF and Infertility Unit, Assaf Harofeh Medical Center, Tel Aviv University and Institute of Human Genetics, Kaplan Medical Center, Israel
Hum Reprod 15:1804-6. 2000..This case report proves the presence of hyperploid spermatozoa in the seminiferous lumen, and strengthens the necessity of genetic diagnosis of the embryos or fetuses in such pregnancies to fathers with non-mosaic Klinefelter's syndrome...
- Neurobehavioral phenotype of Klinefelter syndromeD H Geschwind
Department of Neurology and Program in Neurogenetics, UCLA School of Medicine, Los Angeles, California90095 1769, USA
Ment Retard Dev Disabil Res Rev 6:107-16. 2000..6:135-141). Although the behavioral and neurologic difficulties that have been identified in Klinefelter syndrome (KS) are in most cases milder than the consequences of many other genetic syndromes, the deficits in KS ..
- Cancer incidence in men with Klinefelter syndromeH Hasle
Department of Paediatrics, Odense University Hospital, Denmark
Br J Cancer 71:416-20. 1995Many case reports have suggested an association between Klinefelter syndrome (KS) and cancer, but studies of the cancer incidence in larger groups of men with KS are lacking...
- Klinefelter's syndrome (XXY) as a genetic model for psychotic disordersLynn E DeLisi
The Department of Psychiatry New York University, New York, New York 10016, USA
Am J Med Genet B Neuropsychiatr Genet 135:15-23. 2005..Brain expressed genes that are known to escape inactivation on extra-X chromosomes would be prime candidates...
- Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndromeLone Schejbel
Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Denmark
Clin Immunol 131:456-62. 2009..He was subsequently diagnosed with Klinefelter syndrome. A questionnaire revealed a striking association between properdin deficiency and recurrent otitis media (P=..
- The effect of testosterone replacement treatment on immunological features of patients with Klinefelter's syndromeI H Kocar
Department of Internal Medicine, Gulhane School of Medicine, Ankara Turkey
Clin Exp Immunol 121:448-52. 2000..It is concluded that the lack of testosterone in patients with KS enhances cellular and humoral immunity and that ART may suppress this...
- Testicular function in Klinefelter syndromeAnne M Wikström
Hospital for Children and Adolescents, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland
Horm Res 69:317-26. 2008b>Klinefelter syndrome (KS) is the most common genetic form of male hypogonadism, but the phenotype becomes evident only after puberty...
- Psychiatric morbidity and X-chromosomal origin in a Klinefelter sampleMarco P M Boks
Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, Utrecht, The Netherlands
Schizophr Res 93:399-402. 2007..Nevertheless, these findings provide further support for the role of the X-chromosome in the susceptibility to psychiatric disorders in general and psychotic disorders in particular...
- Recombination in men with Klinefelter syndromeJoanna Gonsalves
Department of Physiology, Programs in Human Genetics, Cancer Genetics, and Developmental and Stem Cell Biology, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143 0556, USA
Reproduction 130:223-9. 2005b>Klinefelter syndrome (KS: 47,XXY), occurs in one in 1000 male births. Men with KS are infertile and have higher rates of aneuploidies in sperm compared with normal fertile men...
- A high predictive value of the first testicular fine needle aspiration in patients with non-obstructive azoospermia for sperm recovery at the subsequent attemptS J Fasouliotis
IVF Unit, Department of Obstetrics and Gynecology, Hadassah Medical Center, Hebrew University, Ein Kerem, Jerusalem, Israel
Hum Reprod 17:139-42. 2002....
- Expression of CDY1 may identify complete spermatogenesisS E Kleiman
Institute for the Study of Fertility, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Fertil Steril 75:166-73. 2001..To investigate the expression of deleted in azoospermia (DAZ), RNA-binding motif (RBM), and chromodomain y1 (CDY1) genes in the testes of men with azoospermia with variable histopathologies...
- Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutationJ Armstrong
Ann Neurol 50:692. 2001
- Testicular tissue extraction in a young male with 47,XXY Klinefelter's syndrome: potential strategy for preservation of fertilityM N Damani
Division of Urology, Boston University School of Medicine, Boston, Massachusetts, USA
Fertil Steril 76:1054-6. 2001..No effect on subsequent testosterone levels. CONCLUSION(S): Testis tissue extraction in the adequately virilized but azoospermic young male with 47, XXY Klinefelter's syndrome may be a strategy to preserve future biological paternity...
- Sex Chromosome Effects on Neural DevelopmentArthur Arnold; Fiscal Year: 2003..The proposed studies will also help explain genetic effects of sex chromosome aneuploidy (Klinefelter Syndrome 47,XXY, and 47,XYY) on behavior and will shed light on the forces that control reproductive behavior, ..
- Sex Chromosome Effects on Neural DevelopmentArthur Arnold; Fiscal Year: 2006..The proposed studies will also help explain genetic effects of sex chromosome aneuploidy (Klinefelter Syndrome 47,XXY, and 47,XYY) on behavior and will shed light on the forces that control reproductive behavior, ..
- ANDROGEN EFFECTS ON COGNITION IN TURNER SYNDROMEJudith Ross; Fiscal Year: 2003..In addition, these data will help determine how to optimize cognitive function in Turner syndrome, and will extend knowledge of the mechanisms of male/female cognitive dimorphisms. ..
- Androgen effect on motor/cognitive outcome in Klinefelter syndromeJudith Ross; Fiscal Year: 2007b>Klinefelter syndrome (KS), a genetic disorder that occurs in 1/1000 males, is defined by the abnormal chromosome karyotype 47.XXY (extra X chromosome), and has characteristic physical and cognitive phenotypes evident in childhood...
- ANDROGEN EFFECTS ON COGNITION IN TURNER SYNDROMEJudith Ross; Fiscal Year: 2007..In addition, these data will help determine how to optimize cognitive function in Turner syndrome and will extend knowledge of the mechanisms of male/female cognitive dimorphisms. ..
- GENETICS OF COGNITION IN ADULT TURNER SYNDROMEJudith Ross; Fiscal Year: 2005..Characterization of specific TS causative genes would provide insight into the pathophysiology of 45,X, Turner syndrome, as well as the process of normal neurocognitive development. ..
- Androgen effect on motor/cognitive outcome in Klinefelter syndromeJudith L Ross; Fiscal Year: 2010b>Klinefelter syndrome (KS), a genetic disorder that occurs in 1/1000 males, is defined by the abnormal chromosome karyotype 47.XXY (extra X chromosome), and has characteristic physical and cognitive phenotypes evident in childhood...
- Androgen effect on brain structure/function in Klinefelter syndromeJudith Ross; Fiscal Year: 2009..Phase II, placebo-controlled clinical trial (NS050597, "Androgen effect on motor/cognitive outcome in Klinefelter syndrome" [KS])...
- Identification of targets of FoxP2 in the brainDaniel Geschwind; Fiscal Year: 2006..This proposal has a strong screening component in an area where no molecular mechanisms have been identified and fits well within the R21 framework. ..
- Novel Genetic Risk Factors for Alzheimer's Disease (AD) & Frontotemporal DementiaDaniel Geschwind; Fiscal Year: 2009..abstract_text> ..
- A Comprehensive Approach to Identification of Autism Susceptibility GenesDaniel H Geschwind; Fiscal Year: 2010..All phenotypic and genotype data will be made accessible via the Internet on a rolling basis, including minority families, further enhancing the value of this resource to the community. ..
- Identification and Characterization of Asymmetrically-Expressed GenesDaniel Geschwind; Fiscal Year: 2007..All of this will clearly inform the study of human neurodevelopmental disorders that are related to speech and language, as well as probe the utility and limitations of animal models for these disorders. ..
- ASYMMETRICALLY EXPRESSED GENES IN DEVELOPING CEREBRUMDaniel Geschwind; Fiscal Year: 2003..abstract_text> ..
- Genomewide Search--Autism Susceptibility Loci-supplementDaniel Geschwind; Fiscal Year: 2003..This work is a direct response to Title 1 of the Pediatric Health Act of 2000 which authorizes and mandates an increased NIH commitment to autism gene banking. ..
- THE GENETICS OF IDIOPATHIC BASAL GANGLIA CALCIFICATIONDaniel Geschwind; Fiscal Year: 2004..Physical mapping and candidate screening for mutations will be pursued as the region is narrowed to identify the IBGC gene. A genome scan will be performed in families who are not linked to the chr.14 locus. ..
- Novel Genetic Risk Factors for Alzheimer's Disease (AD) & Frontotemporal DementiaDaniel Geschwind; Fiscal Year: 2007..abstract_text> ..
- Training Grant in Neurobehavioral GeneticsDaniel Geschwind; Fiscal Year: 2007....
- A Genomewide Search for Autism Susceptibilty LociDaniel Geschwind; Fiscal Year: 2006..All phenotypic and genotype data will be made accessible via the Internet on a rolling basis, further enhancing the value of this resource to the community. ..
- Genetics of Severe Systemic Lupus Erythematosus (SLE) defined by thrombocytopeniaR Scofield; Fiscal Year: 2007..Finally, Specific Aim 4 will assemble a new cohort of families multiplex for SLE so that linkages and associations as well as particular polvmorphisms can be prospectively confirmed. ..
- World Congress of Psychiatric GeneticsLynn DeLisi; Fiscal Year: 2007..All ISPG board members oversee each annual congress. Its founder and secretary/treasurer (LE DeLisi) is a full-time professor at New York University (NYU). Thus, NYU is sponsoring this proposal. ..
- Sjogren's model with anti-Ro/La and Salivary Pathology and DysfunctionR Scofield; Fiscal Year: 2007..Improved understanding of the disease at a fundamental level is possible through study of animal models. Such understanding may lead to improved recognition and treatment. ..
- World Congress of Psychiatric Genetics with Emphasis on Genes for Drug AbuseLynn DeLisi; Fiscal Year: 2007....