VIDEO: Visualizing Nondisjunction
Video that illustrates the process of nondisjunction: click here.
Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies
Article Title: Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders
Authors: Nancy Raitano Lee, Gregory L. Wallace, Elizabeth I. Adeyemi, Katherine C. Lopez, Jonathan D. Blumenthal, Liv S. Clasen, and Jay N. Giedd
Date of Publication: 2012
Executive Function in Young Males with Klinefelter (XXY) Syndrome with and without Comorbid Attention-Deficit/ Hyperactivity Disorder
Article Title: Executive Function in Young Males with Klinefelter (XXY) Syndrome with and without Comorbid Attention-Deficit/ Hyperactivity Disorder
Authors: Nancy Raitano Lee, Gregory L. Wallace, Liv S. Clasen, Rhoshel K. Lenroot, Jonathan D. Blumenthal, Samantha L. White, Mark J. Celano, and Jay N. Giedd
Date of Publication: February 2011
Abstract: Deficits in executive function (EF) are reported to occur in individuals with Klinefelter syndrome (XXY). The degree of impairment, if any, is variable and the nature of these deficits has not been clearly elucidated in young males. In this report, we (a) examine EF skills using multiple tasks in a non-clinic referred group of youth with XXY, (b) describe the extent of EF weaknesses in XXY when this group is compared with typical males of a similar SES or typical males with similar verbal abilities, and (c) evaluate the contribution of comorbid attention-deficit/hyperactivity disorder (ADHD) to EF skills. The sample included 27 males with XXY (ages 9–25), 27 typically developing age- and vocabulary-matched males, and 22 age- and socioeconomic status-matched males. EF tasks included Verbal Fluency, the Trail Making Test, and the CANTAB Spatial Working Memory and Stockings of Cambridge tasks. Mixed model analysis of variance was used to compare the groups on EF tasks and revealed a main effect of group but no group by task interaction. Overall, the XXY group performed less well than both control groups, but performance did not differ significantly as a function of task. ADHD comorbidity in males with XXY was related to poorer EF skills.
Johns Hopkins Klinefelter Syndrome Center
The mission of the Klinefelter Center: To provide compassionate and comprehensive medical and surgical care for XXY males by medical professionals with expertise in the various aspects of Klinefelter Syndrome. Services are available for all ages from young boys to adult men.
Click here for brochure.
Click here for clinic website.
Dr. Adrian Dobs, head of the clinic, has produced a webinar for AXYS and she has presented at conferences.
Life and Intersex: An Interview with Jim Bruce and Eden Atwood of the Interface Project
Ann Szalda-Petree interviews intersex activists Jim Bruce and Eden Atwood about living life with an intersex condition. Eden and Jim highlight the social and medical oppression people with intersex conditions have traditionally received, as well as provide hope for change in the future.
Birth of 16 healthy children after ICSI in cases of non-mosaic Klinefelter syndrome
Article Title: Birth of 16 healthy children after ICSI in cases of nonmosaic Klinefelter syndrome
Authors: E. Greco, F. Scarselli, M.G. Minasi, V. Casciani, D. Zavaglia, D. Dente, J. Tesarik, G. Franco
Date of Publication: March 14, 2013
KS patients undergoing testicular sperm extraction (TESE) are capable of conceiving healthy children.
Endocrinological issues and hormonal manipulation in children and men with Klinefelter syndrome
Article Title: Endocrinological issues and hormonal manipulation in children and men with Klinefelter syndrome
Author: Matthew S. Wosnitzer et al
Date of Publication: January 18, 2013
47, XXY or Klinefelter syndrome (KS), the most common chromosomal aberration in males, is characterized by either absolute or relative hypogonadism with frequent decline in serum testosterone (T) following the onset of puberty. Decreased T levels are the result of testicular dysfunction with decrease in size of Leydig cells, and loss of germs and Sertoli cells leading to tubular hyalinization. Increase in estradiol results from over-expression of aromatase CYP19. Deficient androgen production and observed varied response of end-organs to T leads to delayed progression of puberty with decreased facial/body hair, poor muscle development, osteoporosis, and gynecomastia. It is possible that hypogonadism and excessive estradiol production contribute to emotional and social immaturity, and specific learning disabilities in KS. Based on the authors’ experience and literature review, early fertility preservation and hormonal supplementation may normalize pubertal development, prevent metabolic sequelae of hypogonadism, and have a positive effect on academic and social development. No randomized clinical trials are available studying the effects of T supplementation on reproductive or cognitive issues in KS. Aggressive T supplementation (topical gel) and selective use of aromatase inhibitors may be considered at the onset of puberty with careful follow-up and titration to reach age-specific high-normal physiologic serum values. The decision to institute hormonal therapy should be part of a multidisciplinary approach including physical, speech, behavioral, and occupational therapy.
Timing of Diagnosis of 47,XXY and 48,XXYY: A Survey of Parent Experiences
Article Title: Timing of Diagnosis of 47,XXY and 48,XXYY: A Survey of Parent Experiences
Authors: Jeannie Visootsak, Natalie Ayari, Susan Howell, Joash Lazarus, and Nicole Tartaglia
Date of Publication: January 15, 2013
Easily Missed? Klinefelter’s syndrome
Article Title: Klinefelter’s syndrome
Authors: Christopher H. Blevins, Michael E. Wilson
Date of Publication: December 3, 2012
A 29 year old man presented to primary care with anxiety and depression that had worsened since childhood. Further questioning revealed a history of poor school performance, poor body image, and poor self esteem. On physical examination, the patient’s height was 189 cm and he had narrow shoulders, wide hips, sparse facial hair (which he shaved once every two months), and small, firm testicles. He was found to have elevated luteinising hormone and follicular stimulating hormone concentrations, low serum concentrations of testosterone, absent sperm on semen analysis, and a karyotype of 47,XXY.
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Cancer Incidence and Mortality in Men with Klinefelter Syndrome: A Cohort Study
Article Title: Cancer Incidence and Mortality in Men with Klinefelter Syndrome: A Cohort Study
Authors: Anthony J. Swerdlow, Minouk J. Schoemaker, Craig D. Higgins, Alan F. Wright, Patricia A. Jacobs
Date of Publication: August 17, 2005