September 2016 - The Association for X and Y Chromosome Variations

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.”

Rick Frith2018-08-23T12:27:09-04:00Categories: 47,XXY (Klinefelter)|

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.”

Gender and Sex Discussion

Article Title: Sex Redefined

Author: Claire Ainsworth

Date of Publication: February 18, 2015

“The idea of two sexes is simplistic. Biologists now think there is a wider spectrum than that.

As a clinical geneticist, Paul James is accustomed to discussing some of the most delicate issues with his patients. But in early 2010, he found himself having a particularly awkward conversation about sex.

A 46-year-old pregnant woman had visited his clinic at the Royal Melbourne Hospital in Australia to hear the results of an amniocentesis test to screen her baby’s chromosomes for abnormalities. The baby was fine — but follow-up tests had revealed something astonishing about the mother. Her body was built of cells from two individuals, probably from twin embryos that had merged in her own mother’s womb. And there was more. One set of cells carried two X chromosomes, the complement that typically makes a person female; the other had an X and a Y. Halfway through her fifth decade and pregnant with her third child, the woman learned for the first time that a large part of her body was chromosomally male.”

Rick Frith2018-09-04T11:42:04-04:00Categories: All Variations|

Gender and Sex Commentary

Article Title: Sex Isn’t Chromosomes: The Story of a Century of Misconceptions about X & Y

Author: Ian Steadman

Date of Publication: February 23, 2015

“The influence of the XX/XY model of chromosomal sex has been profound over the last century, but it’s founded on faulty premises and responsible for encouraging reductive, essentialist thinking. While the scientific world has moved on, its popular appeal remains.”

Rick Frith2018-09-04T11:51:54-04:00Categories: All Variations|

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.”

Rick Frith2018-09-04T12:10:27-04:00Categories: 47,XXY (Klinefelter)|