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.
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.
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
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.
Read more (Full article requires subscription)
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
Article Title: Klinefelter’s syndrome—a diagnosis mislaid for 46 years
Authors: Mithun Bhartia, Sudarshan Ramachandran, Anonymous patient
Date of Publication: December 3, 2012
The patient was initially diagnosed in 1959 at the age of 14 years, but was never informed of the diagnosis.
He experienced physical and psychological ill effects until re-diagnosis 46 years later.
Article Title: What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionnaire study
Authors: Lenore Abramsky, Sue Hall, Judith Levitan, Theresa M. Marteau
Date of Publication: February 24, 2001
Article Title: The psychological and social impact of Klinefelter’s Syndrome
Author: Marianne Morris, Sue Jackson, and Jude Hancock
Date of Publication: September 2009
Article Title: Reduced artery diameters in Klinefelter syndrome
Authors: C. Foresta, N. Caretta, P. Palego, A. Ferlin, D. Zuccarello, A. Lenzi, R. Selice
Date of Publication: April 10, 2012
“Various epidemiological studies in relatively large cohorts of patients with Klinefelter syndrome (KS) described the increased morbidity and mortality in these subjects. Our aim was to study the structure and function of arteries in different districts to investigate in these subjects possible alterations. A total of 92 patients having non-mosaic KS, diagnosed in Centre for Human Reproduction Pathology at the University of Padova, and 50 age-matched healthy male controls were studied. Klinefelter syndrome subjects and controls evaluation included complete medical history, physical examination, measurement of concentrations of the reproductive hormones, lipidic and glycidic metabolism, AR function and sensitivity, ultrasound examinations (diameters, carotid intima-media thickness and brachial flow-mediated dilation) of brachial, common carotid and common femoral artery and abdominal aorta. Klinefelter syndrome patients showed significantly reduced artery diameters in all districts evaluated.”
Article Title: FDA Panel Split on Safety of Long-Acting Testosterone
Author: Megan Brooks
Date of Publication: April 18, 2013
An advisory panel to the US Food and Drug Administration (FDA) was split today on the question of whether or not testosterone undecanoate intramuscular injection (Aveed, Endo Pharma Solutions) is a safe testosterone replacement therapy, given reports of severe post-injection reactions.
Read More
Note: This MedScape article requires that you setup a free account to view the article.
