Two Boys with 47, XXY and Autism

Merhar, S. L.; Manning-Courtney, P.
May 2007
Journal of Autism & Developmental Disorders;May2007, Vol. 37 Issue 5, p840
Academic Journal
Two children with autism and Klinefelter syndrome (KS) (47, XXY) are presented. Both qualify for the diagnosis of autism based on DSM-IV with severely delayed and disordered language, difficulties with social interaction, and a restricted range of interests and activities. Both also have abnormal EEGs, and one patient has had what appear to be clinical seizures. Trials of antiepileptic medications have not been beneficial in either patient. We report the clinical and EEG findings of each patient, and discuss the implications of this combination of disorders.


Related Articles

  • Feminized Behavior and Brain Gene Expression in a Novel Mouse Model of Klinefelter Syndrome. Ngun, Tuck; Ghahramani, Negar; Creek, Michelle; Williams-Burris, Shayna; Barseghyan, Hayk; Itoh, Yuichiro; Sánchez, Francisco; McClusky, Rebecca; Sinsheimer, Janet; Arnold, Arthur; Vilain, Eric // Archives of Sexual Behavior;Aug2014, Vol. 43 Issue 6, p1043 

    Klinefelter Syndrome (KS) is the most common sex chromosome aneuploidy in men and is characterized by the presence of an additional X chromosome (XXY). In some Klinefelter males, certain traits may be feminized or shifted from the male-typical pattern towards a more female-typical one. Among...

  • A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation. Talreja, Shyam M.; Banerjee, Indraneel; Yadav, Sher Singh; Tomar, Vinay // Urology Annals;Oct-Dec2015, Vol. 7 Issue 4, p520 

    Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both ovarian and testicular tissues in the same individual. It's incidence ranges from 3% to 10% of all disorder of DSD's, and the most common presentation is 46, XX...

  • Cancer Incidence and Mortality in Men with Klinefelter Syndrome: A Cohort Study. Swerdlow, Anthony J.; Schoemaker, Minouk J.; Higgins, Craig D.; Wright, Alan F.; Jacobs, Patricia A. // JNCI: Journal of the National Cancer Institute;8/17/2005, Vol. 97 Issue 16, p1204 

    Background: Men with Klinefelter syndrome have one or more extra X chromosomes and have endocrine abnormalities. Case reports have led to suggestions that men with Klinefelter syndrome have elevated risks of several cancers, but published cohort studies have been relatively small. We conducted a...

  • Klinefelter's syndrome (karyotype 47,XXY) and schizophrenia-spectrum pathology. Van Rijn, Sophie; Aleman, André; Swaab, Hanna; Kahn, RenÉ S.; Aleman, André; Kahn, René // British Journal of Psychiatry;Nov2006, Vol. 189, p459 

    Klinefelter's syndrome, characterised by a 47,XXY chromosomal pattern, has largely been associated with physical abnormalities. Here, we report high levels of schizophrenia-spectrum pathology in 32 men with this syndrome in comparison with 26 healthy controls. This may have implications for...

  • Klinefelter's syndrome.  // Taber's Cyclopedic Medical Dictionary (2009);2009, Issue 21, p1272 

    A reference entry for "Klinefelter's syndrome" which refers to a sex chromosome syndrome is presented.

  • Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009? Fullerton, G.; Hamilton, M.; Maheshwari, A. // Human Reproduction;Mar2010, Vol. 25 Issue 3, p588 

    BACKGROUND: Klinefelter syndrome is a common genetic condition. Affected non-mosaic men are azoospermic and have been labelled as infertile. Despite reports that these men can have children using assisted reproduction techniques, it is not common practice in the UK to offer sperm retrieval to...

  • Pedal oedema in a newborn male. Mitchell, Jennifer; Manjunatha, Chikkanayakanahalli; Ibhanesebhor, Samuel; Gardiner, Carol; Paterson, Lindsay // Infant;Sep2014, Vol. 10 Issue 5, p164 

    No abstract available.

  • Disorders of Sexual Development: An Overview of 18 Years Experience in the Pediatric Endocrinology Department of Ankara University. Öcal, G.; Berberoğlu, M.; Şıklar, Z.; Bilir, P.; Uslu, R.; Yağmurlu, A.; Tükün, A.; Akar, N.; Soygür, T.; Gültan, S.; V. Tonyukuk, Gedik // Journal of Pediatric Endocrinology & Metabolism;Nov2010, Vol. 23 Issue 11, p1123 

    The article discussed a study which reviewed the clinical characteristics of patients with ambiguous genitalia, diagnostic categories, and difficulties encountered in designation of sex of rearing. Genital phenotypes considered ambiguous are presented along with the classification of all...

  • A case of male anorexia with Klinefelter's syndrome, 22 years later -- case report. Szabo, Christopher Paul // British Journal of Psychiatry;Nov2008, Vol. 193 Issue 5, p388 

    The article describes the case of anorexia nervosa in a male associated with Klinefelter's syndrome. In addition to weight loss, the patient reported vomiting five times per week in the two months before the admission. This case highlights the clinical interpretation of disordered eating and the...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics