Video Title: The cognitive and behavioral profile of 47,XXX (Trisomy X): A research approach
Presentation by: Dr. Sophie Van Rijn
Date of Recording: April 29, 2015
Article Title: Thinking outside the square: considering gender in Klinefelter syndrome and 47, XXY
Authors: A. S. Herlihy and L. Gillam
Date of Publication: 2011
“Ultimately, we decided that the goal of our research was to look at KS as a genetic condition affecting males, and not just the karyotype XXY, which may manifest in different ways for a small number of people. With little evidence in the literature to guide clinicians as to the gender profiles of people with XXY, the best practice is to approach each patient with an open mind (Gillam et al., 2010). However, this issue begs further exploration: Should individuals with an XXY karyotype who do not identify as male be considered to have KS? In addition, how should individuals with an XXY karyotype who do identify as male, but do not wish to become more masculine, be informed of the possible consequences of lifelong testosterone deficiency, whilst maintaining respect for the patient’s choice? This is an area of endocrinology that would benefit from further discussion and collation of clinical experience. Research into the range of karyotypes and their possible corresponding phenotypes, in addition to the current difficulties experienced by these people, would be beneficial.”
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.”
Article Title: A New Look at XXYY Syndrome: Medical and Psychological Features
Authors: Nicole Tartaglia, Shanlee Davis, Alison Hench, Sheela Nimishakavi, Renee Beauregard, Ann Reynolds, Laura Fenton, Lindsey Albrecht, Judith Ross, Jeannie Visootsak, Robin Hansen, and Randi Hagerman
Date of Publication: March 2008
“XXYY syndrome occurs in approximately 1:18,000–1:40,000 males. Although the physical phenotype is similar to 47,XXY (tall stature, hypergonadotropic hypogonadism, and infertility), XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features.”
Article Title: Tremor in 48,XXYY Syndrome
Authors: Nicole Tartaglia, MD, Mariya Borodyanskya, BA and Deborah A. Hall, MD, PhD
Date of Publication: October 15, 2009
“The 48,XXYY syndrome is a form of sex chromosome aneuploidy presenting in 1:18,000 males. Tremor has been previously reported in 47,XXY and 47,XYY syndromes, but has not been well described in 48,XXYY syndrome. Ten males with 48,XXYY syndrome had a standardized neurological examination and videotaping, which included the Clinical Rating Scale for Tremor and the International Cooperative Ataxia Rating Scale. All 10 cases had postural and kinetic tremor on physical examination. Other findings included mild gait ataxia, dysarthria, and nystagmus. Three cases are reviewed. Tremor is a common finding in children and young adults with 48,XXYY syndrome. Dosage alteration of genes on the sex chromosomes may be involved in the pathogenesis of this tremor. Karyotyping should be considered in individuals presenting with tremor and a history of developmental delay, learning disabilities, tall stature, or micro-orchidism.”
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.”
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.”
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.”
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.”
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.”
