A New Look at XXYY Syndrome: Medical and Psychological Features

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.”

Rick Frith2018-09-02T16:26:54-04:00Categories: 48,XXYY|

Tremor in 48,XXYY Syndrome

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.”

Rick Frith2018-09-02T16:44:40-04:00Categories: 48,XXYY|

Research Opportunities for X&Y Chromosome Variations

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AXYS is pleased to provide the following list of studies that our community members may consider joining. All listed studies have been approved by an Institutional Review Board (IRB) and meet guidelines established by AXYS regarding relevancy to X&Y variations. AXYS takes no position and makes no claims as to the potential benefits of the studies, and cannot be responsible for any outcomes or unintended side effects. If interested in participating, please use the contact information in the listing.

Name/Purpose of Study: TREAT-KS: An Evaluation of a Testosterone Replacement Therapy Patient Education Material for Adolescents and Young Adults with Klinefelter Syndrome

X and Y variations being studied: 47,XXY

Genders being studied: All

Age Range: 14-25 years

Other eligibility requirements: Individuals with mosaic KS (46,XY/47,XYY) are eligible but higher order X aneuploidies (i.e., 48,XXXY and 49,XXXXY) are not. Individuals must be able to read English.

Travel required: No

Sponsoring Institution: Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University

Principal Investigator(s): Allison Weisman, MS, CGC

Link to a more detailed description: https://redcap.luriechildrens.org/surveys/?s=YLMNN8EYAJCWWEPK

Primary funding source(s): Northwestern University Graduate Program in Genetic Counseling

Primary Contact: Sofia Marrufo, sofia.marrufo@northwestern.edu

Date Posted: May 15, 2025

Study Flyer

Name/Purpose of Study: GALAXY Registry: Generating Advancements in Longitudinal Analysis in X&Y Chromosome Variations

X and Y variations being studied: All

Genders being studied: All

Age Range: All

Other eligibility requirements: Genetic test results confirming X&Y variation

Travel required: No

Sponsoring Institution: University of Colorado

Principal Investigator(s): Shanlee Davis, MD, PhD

Link to a more detailed description: www.galaxyregistry.org

Primary funding source(s): AXYS, Living with XXY, University of Colorado

Primary Contact: galaxy@ucdenver.edu

Date Posted: May 8, 2025

Name/Purpose of Study: The Voices Study: Learning from youth about their care needs and priorities

X and Y variations being studied: Klinefelter syndrome (47,XXY)

Genders being studied: No restrictions based upon gender

Age Range: 11-21 years

Other eligibility requirements: Diagnosis of 47,XXY/Klinefelter syndrome, must be able to understand basic sentences and questions in English, access to a web-capable device, access to an internet connection

Travel required: No

Sponsoring Institution: Children’s National Hospital

Principal Investigator(s):

Link to a more detailed description: Study flyer

Primary funding source(s): National Institutes of Health (NIH)

Primary Contact: Alejandro Todd, datodd@childrensnational.org, 301-765-5573

Date Posted: November 12, 2024

Name of Study: National Institutes of Health (NIH) Behavioral, Cognitive, and Brain Imaging Study for Girls and Young Women with Trisomy X (2 day study)

X and Y variations being studied: Trisomy X

Genders being studied: Female

Age Range: 5 to 25 years

Other eligibility requirements:

Travel required: Yes. 2 day study near Washington, DC. Flights and lodging are provided, along with a meal allowance and participant payment.

Sponsoring Institution: National Institutes of Health (NIH)

Principal Investigator(s): Dr. Armin Raznahan

Link to a more detailed description: Children w/ X & Y Chromosome Variations | Adults w/ X & Y Chromosome Variations | Study Flyer

Primary funding source(s): National Institutes of Health Intramural Research Program

Primary Contact: Bobby Das at dasb@mail.nih.gov or 301-435-4516

Date Posted: January 15, 2020

Rick Frith2025-09-12T13:06:58-04:00

Other Variations

More Tetrasomy and Pentasomy information and support coming soon.

Rick Frith2022-09-14T14:26:32-04:00

General Information

Rick Frith2016-11-13T02:56:53-05:00

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)|

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A New Look at XXYY Syndrome: Medical and Psychological Features

Tremor in 48,XXYY Syndrome

Research Opportunities for X&Y Chromosome Variations

Research Opportunities for X&Y Chromosome Variations

Other Variations

48,XXXX (Tetrasomy X)

48,XYYY

49,XXXXX (Pentasomy X)

49,XXXXY

49,XYYYY

General Information

Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome

Klinefelter syndrome: current management and research challenges

Gender and Sex Discussion

Gender and Sex Commentary

Testis Development and Reproductive Options in Males with Klinefelter Syndrome