Medienberichte und Wissenschaftsjournalismus

Print- und Online-Zeitungen

24. September 2014: Unser Abtreibungswahn – von Denise Linke

Wissenschaftsjournalistische Zusammenfassungen

Medizinische Zusammenfassungen

Themen, die direkt oder indirekt mit XXY zu tun haben


(Update, 07.10.21)

Auf den anderen Menü-Seiten bzw. Einträgen habe ich die entsprechenden Artikel nach der offiziellen Nomenklatur mit (Autor+ Jahr) abgekürzt. Alle zitierten Artikel befinden sich in der nachfolgenden Literaturliste:

XXY Allgemein

  • Akglaede et al., 47,XXY Klinefelter syndrome: Clinical characteristics and age-specific recommendations for medical management, Am J Med Genet Part C Semin Med Genet, 163C: 55–63, Januar 2013 (Volltext online)
  • Bojesen et al., Prenatal and Postnatal Prevalence of Klinefelter syndrome: A National Registry Study,The Journal of Clinical Endocrinology & Metabolism, 88 (2), February 2003 (Volltext)
  • Chang et al., Anthropometry in Klinefelter syndrome – multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism, J Clin Endocrinol Metab, Dec 2014 (Abstract)
  • Close et al., Phenotype and Adverse Quality of Life in Boys with Klinefelter syndrome, 2015, J Pediatr, 2015, 167(3), (Abstract)
  • Conn P. Michael: Animal Models for the Study of Human Disease; 2013, Wistuba et al., Mouse Models for the Exploration of Klinefelter’s Syndrome, 759-780
  • Groth et al., Klinefelter Syndrome – A clinical update, J. Clin. Endocrinol Metab, January 2013, 98 (1) :20-30 (Volltext)
  • Host C. et al, The role of hypogonadism in Klinefelter Syndrome, Asian J Androl. Mar-Apr 2014; 16(2): 185–191. (Volltext)
  • Litsuka et al., Evidence of Skewed X-chromosome Inactivation in 47,XXY and 48,XXYY Klinefelter Patients. American Journal of Medical Genetics 98.1 (2001): 25-31.
  • Ratcliffe SG et al, Prenatal testosterone levels in XXY and XYY males, Horm Res, 1994, 42(3), 106-9, (Abstract)
  • Rocca M.S. et al, The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype, Andrology, 2016, 1-7
  • Tartaglia N. et al, The eXtraordinarY Kids Clinic: an interdisciplinary model of care of children and adolecents with sex chromosome aneuploidy, J Multidiscip Healthc., 2015, 8, 323-334 (Volltext)
  • Tüttelmann and Gromoll, Novel genetic aspects of Klinefelter syndrome, Mol.Hum.Reprod.,2010, 16(6), 386-395

XXY Verhalten, psychische Aspekte

  • Boada R. et al., The Cognitive Phenotype in Klinefelter Syndrome: A Review of the Literature Including Genetics and Hormonal Factors, Dev Disabil Res Rev, 2009, 15(4), 284-94 (Volltext)
  • Hancock et al., The psychological and social impact of Klinefelter’s syndrome, Report for the Klinefelter’s Syndrome Association (UK), 2009 (Volltext online)
  • Lubienski A. et al, Evaluation of cognitive, affective and relation skills of adolescents treated with testosterone for 47 XXY Klinefelter syndrome, Endocrine Abstracts, 2012, 29 P496 (Abstract)
  • Ross J.L. et al, Behavioral and Social Phenotypes in Boys with 47,XXY Syndrome or 47,XXY Klinefelter Syndrome, Pediatrics, 2012, 129 (4) (Volltext)
  • Samplaski MK et al., Phenotypic Differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients, Fertil Steril, 2014, 101 (4), 950-955 (Abstract)
  • Van Rijn et al.,X Chromosomal effects on social cognitive processing and emotion regulation: A study with Klinefelter men (47,XXY), Schizophr. Res., Jun 2006b, 4(2-3):194-203, (Abstract)
  • Van Rijn et al., Klinefelter’s syndrome (karyotype 47,XXY) and schizophrenia-spectrum pathology, British Journal of Psychiatry, 2006a, 189, 459-460 – Short report (Volltext online)
  • Vitsootsak et al., Social Function in Multiple X and Y Chromosome Disorders: XXY, XYY, XXYY and XXXY, Dev Disabil Res Rev, 2009, 15(4): 328-332 (Volltext)


  • Lee NR et al., Executive Function in Young Males with Klinefelter (XXY) Syndrome with and without Comorbid Attentation Deficit/Hyperactivity Disorder, J Int Neuropsychol Soc., 2011, 17(3), 522-530 (Volltext online)
  • Tartaglia NR et al., Attention-deficit hyperactivity disorder symptoms in children and adolescents with sex chromosome aneuploidy: XXY, XXX, XYY and XXY, J Dev Behav Pediatr, 2012, 33 (4), 309-318 (Volltext online)

XXY und Reizfilterschwäche

  • Van Rijn et al, Psychophysiological Markers of Vulnerability to Psychopathology in Men with an Extra X Chromosome (XXY), PLoS ONE, 6(5): 2011 (Volltext)

XXY und Unfruchtbarkeit/Kinderwunsch

  • Plotten I. et al, A prospective study of testicular sperm extraction in young versus adult patients with non-mosaic 47,XXY Klinefelter syndrome. Preliminary results, J Clin Endocrinol Metab, Nov 2014, (Volltext)
  • Plotton I. et al, Klinefelter syndrome and TESE-ICSI, Ann.Endocrinol Paris, 2014, 75 (2),118-25, (Abstract)

Neurowissenschaften und Gehirn

  • Bruining H et al., In search for significant cognitive features in Klinefelter syndrome through cross-species comparison of a supernumary X chromosome, Genes Brain Behav., Aug 2011, 10(6), 658-662 (Abstract)
  • Bryant Daniel M. et al., Neuroanatomical Phenotype of Klinefelter Syndrome in Childhood: A Voxel-based morphometry study, The Journal of Neuroscience, 2011, 31(18): 6654-6660 (Volltext)
  • Hong DS et al., Influence of the X-Chromosome on neuranatomy: evidence from Turner and Klinefelter syndromes, J Neurosci, Mar 2014, 34(10), 3509-3516 (Abstract)
  • Patwardhan A.J. et al., Reduced Size of the Amygdala in Individuals with 47,XXY and 47,XXX Karyotypes, American Journal of Medical Genetics (Neuropsychiatric Genetics),2002, 114: 93-98 (Abstract)
  • Simerly P. et al., Distribution of androgen and estrogen-receptor messenger RNA-containing cells in the rat-brain – an insitu hybridization study, 1990, Journal of Comparative Neurology, 294 (1), 76-95)
  • Skakkebaek A. et al., Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile, NeuroImage: Clinical 4 (2014) 1-9 (Volltext)
  • Skakkebaek A. et al., Neuropsychology and brain morphology in Klinefelter syndrome – the impact of genetics, Andrology, 2014, 2(4): 632-640, (Abstract)
  • Steinman K. et al, 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 Language, 2009, Dev Disabil Res Rev, 15(4),295-308 (Volltext)

XXY und Autismus

  • Bishop D.V.M. et al., Autism, language and communication in children with sex chromosome trisomies, Arch Dis Child., 2011, 96 (10): 954-959 (Volltext)
  • Brandenburg-Goddard MN. et al., A comparison of neural correlates underlying social cognition in Klinefelter syndrome and autism, Soc Cogn Affect Neurosci. ,2014,1-8 (Abstract)
  • Bruining H et al., Dissecting the Clinical Heterogeneity of Autism Spectrum Disorder through Defined Genotypes, PloS ONE, 2010, 5(5): e10887 (Volltext)
  • Bruining H et al., Behavioral signatures related to genetic disorders in autism, Molecular Autism, 2014, 5:11 (Volltext)
  • Bruining H. et al., Psychiatric Characteristics in a self-selected sample of boys with Klinefelter Syndrome, Pediatrics, 2009, 123, e865 (Volltext)
  • Cederlöf M. et al., Klinefelter syndrome and risk of psychosis, autism and ADHD, Journal of Psychiatric Research, 48 (2013), 128-130 (Abstract)
  • Cordeiro L. et al., Social Deficits in Male Children and Adolescents with Sex Chromosome Aneuploidy: A comparison of XXY, XYY and XXYY syndromes, Res Dev Disabil, 2012, 33(4): 1254-63 (Volltext)
  • Van Rijn S. et al., Social Behaviour and autistic traits in a sex chromosomal disorder: Klinefelter (47 XXY) syndrome, J Autism Dev Disord, 2008, 38: 1634-1641 (Volltext)
  • Van Rijn et al., Vulnerability for autism traits in boys and men with an extra X chromosome (47, XXY): The mediating role of cognitive flexibility, Journal of Psychiatric Research, 2012, 46, 1300-1306 (Volltext)
  • Van Rijn et al., Neural systems for social cognition in Klinefelter syndrome (47,XXY): evidence from fMRI, SCAN (2012) 7, 689-697 (Volltext)
  • Van Rijn et al., Social attentation, Affective Arousal and Empathy in Men with Klinefelter Syndrome (47,XXY): Evidence from Eyetracking and Skin conductance, PLoS One, 2014, 9 (1): e84721 (Volltext)
  • Van Rijn et al., Social cognition and underlying cognitive mechanisms in children with an extra X chromosome : a comparison with autism spectrum disorder, Gene Brain Behav., Mar 2014, (not printed yet), (Abstract)


  • Donnelly SL, et al. Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome. Am J Med Genet. 2000;96(3):312–316.
  • Hou M, Wang MJ, Zhong N. Principal genetic syndromes and autism: from phenotypes, proteins to genes. Beijing Da Xue Xue Bao. 2006;38(1):110–115.
  • Inbar-Feigenberg et al., Social skills impairment in girls with Turner-Syndrom, The 63rd Annual Meeting of the American Society of Human Genetics (ASHG 2013), Boston, MA., 22-26 October 2013 (Zusammenfassung)
  • Skuse et al., Evidence from turner’s syndrome of an imprinted x-linked locus affecting cognitive function, Nature, 1997, 387 (6634): 705-708


  • Baron-Cohen S., The Extreme Male Brain Theory of Autism, Trends in Cognitive Sciences, Vol.6, 6, June 2002, 248-254
  • Baron-Cohen S., Is Asperger’s Syndrome/High-Functioning Autism necessarily a disability?, Invited submission for Special Millennium Issue of Developmental and Psychopathology Draft: 5th January 2000
  • Cohen et al., Specific genetic disorders and autism: clinical contribution towards their identification. J Autism Dev Disord, 2005, 35: 103-116. (Volltext)
  • Devlin B. and Scherer, S.W., Genetic architecture in autism spectrum disorder, Current Opinion in Genetics and Development, 2012, 22 (3): 229-237 (Volltext)
  • Lehnhardt et al., Diagnostik und Differential-Diagnose des Asperger-Syndroms im Erwachsenenalter, Dtsch Arztebl Int., 2013, 10 (45): 755-763 (Volltext)
  • Lorenz and Heinitz: Aspergers – Different, Not Less: Occupational Strengths and Job Interests of Individuals with Asperger’s Syndrome, PlosOne, Juni 2014, 9(6) (Volltext online)
  • Sarachana et al., Sex Hormones in Autism: Androgens and Estrogens Differentially and Reciprocally Regulate RORA, a Novel Candidate Gene for Autism, PLoS One. 2011; 6(2): e17116. (Volltext online)
  • Walker et al., Specifying PDD-NOS: a comparison of PDD-NOS, Asperger syndrome, and autism. J Am Acad Child Adolesc Psychiatry. 2004; 43(2):172-80. (Abstract)
  • Werling D.M. and Geschwind, D.H.: Sex differences in autism spectrum disorders , Curr Opin Neurol. Apr 2013; 26(2): 146–153. (Volltext online)
  • Wilczek Brit, Erwachsene mit hochfunktionalem Autismus in der psychotherapeutischen Praxis. Herausforderungen und Chancen („Zwei-Welten-Modell“), Psychotherapeuten journal, 16.Juni 2015, 14, S. 120-130 (Volltext)


  • Bruining H., Genetic Dissection of Behavioral Phenotypes, Lost & Found in Translation,  2011, PhD, 161 S., (Volltext)
  • Van Rijn S., Xploring Social Cognitive Pathways to Psychopathology, Studies with Klinefelter (XXY) Men, 2007, PhD, 273 S. (Volltexte)


4 Gedanken zu “Literatur

  1. @Zorg: Gute Idee! Die meisten Abstracts dürfte man über Google finden. Bei den Volltexten ist das etwas schwieriger – ich hab den Zugang zu vielen dank eines Bibliotheksausweises auf der Uni (sollte theoretisch in jeder größeren Stadt auch für den Normalbürger möglich sein). Wo möglich, ergänze ich noch die Volltexte.

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