47,XXY (Klinefelter) Archives - Page 20 of 20 - The Association for X and Y Chromosome Variations

What is Intersex?

Article Title: What is Intersex?

Authors: Organisation Intersex International Australia Limited

Date of Publication: 2010

“INTERSEX is congenital difference in anatomical sex. That is, physical differences in reproductive parts like the testicles, penis, vulva, clitoris, ovaries and so on. Intersex is also physical differences in secondary sexual characteristics such as muscle mass, hair distribution, breast development and stature. Intersex can include things that are invisible to the eye such as chromosomal and hormonal differences. Those kinds of differences usually have a manifestation in primary or secondary sexual anatomy that is visible either externally or internally. Brain differences may account for both homosexuality and transsexualism, but intersex isn’t brain sex alone. We are intersex because it is thought the kinds of differences in our anatomy seem to be either male and female at the same time or not quite male or female or neither male or female. So we have physical differences that confuse medicine’s anatomical ideal of male and female. Intersex is not always immediately apparent because in our society we do not commonly look at each other’s genitals or internal organs.”

Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome

Article Title: Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome

Authors: Shanlee Davis, MD; Susan Howell, MS, CGC, MBA; Rebecca Wilson, PsyDc; Tanea Tanda, BS; Judy Ross, MD; Philip Zeitler, MD, PhD; Nicole Tartaglia, MD, MS

Date of Publication: August 2016

“In summary, KS is a common but underdiagnosed genetic condition with significant phenotypic variability in childhood. The pediatrician needs to be aware of the increased risk for neurodevelopmental, psychological, and medical conditions that are associated with an additional X-chromosome. Over the next decade, we anticipate a sharp increase in diagnoses rates with advances in genetics, particularly prenatal and neonatal diagnoses. In the United States, more multidisciplinary clinics are being established to provide comprehensive care for children and adults with KS and other sex chromosome variations. More research is needed to further define the natural history of KS in infancy and childhood with these unbiased populations, as well as understand genetic and environmental contributors to phenotypic variability and determine best practice screening and management guidelines for boys with KS.”

Klinefelter syndrome: current management and research challenges

Article Title: The Klinefelter syndrome: current management and research challenges

Authors: E. Nieschlag, A. Ferlin, C. H. Gravholt, J. Gromoll, B. Kohler, H. Lejeune, A. D. Rogol and J. Wistuba

Date of Publication: April 1, 2016

“Following the 1st International Workshop on the Klinefelter Syndrome in 2010 (Juul et al., 2011), the 2nd IWKS took place in Munster, Germany from March 10 to 12, 2016 and was organized by the Centre of Reproductive Medicine and Andrology of the University of Munster. During the program, talks were presented by leading researchers in the field followed by lively discussions among the 120 participants.”

Testis Development and Reproductive Options in Males with Klinefelter Syndrome

Article Title: Testis Development and Reproductive Options in Males with Klinefelter Syndrome

Authors: Shanlee M. Davis, MD; Alan D. Rogol, MD, PhD; Judith L. Ross, MD

Date of Publication: September 28, 2015

“Klinefelter syndrome (KS) is the leading genetic cause of primary hypogonadism and infertility in men. The clinical phenotype has expanded beyond the original description of infertility, small testes and gynecomastia. Animal models, epidemiological studies, and clinical research of males with KS throughout the lifespan have allowed us to better characterize the variable phenotype of this condition. This review will provide an overview on what is known of the epidemiology, clinical features, and pathophysiology of KS, followed by a more focused discussion of testicular development and the clinical management of hypogonadism and fertility in men with KS.”