In the Dark: Challenges of Caring for Sons with Klinefelter Syndrome

Article Title: In the Dark: Challenges of Caring for Sons with Klinefelter Syndrome

Authors: S. Close, L. Sadler, M. Grey

Date of Publication: May 30, 2015

“The purpose of this mixed method study was to describe family management challenges for parents who have sons with Klinefelter Syndrome (KS). Standardized survey results showed that stress, quality of life and family management struggles varied by parent age. When interviewed, parents described feeling uninformed and without support to make decisions about managing their sons’ KS. Parents reported that a lack of guidance and case coordination created barriers in caring for their sons throughout childhood. Given the prevalence of KS, health care providers need to be prepared to provide comprehensive evaluation and anticipatory guidance for KS boys and families.”

Rick Frith2018-08-27T15:10:04-04:00Categories: 47,XXY (Klinefelter)|

Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome

Article Title: Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome

Authors: S. Close, I. Fennoy, A. Smaldone, N. Reame

Date of Publication: June 22, 2015

“To characterize associations among psychosocial well-being, physical phenotype, and sex hormones in a sample of youth with Klinefelter syndrome (KS). We hypothesized that KS physical traits (phenotype) are associated with adverse psychosocial health measures and that testosterone levels are associated with adverse psychosocial health…Depending on the degree of phenotypic abnormality, boys with KS may be at risk for impaired QOL. Testosterone levels were not shown to influence psychosocial health. The Klinefelter Phenotype Index Scale may be a useful tool to characterize KS features in boys.”

Rick Frith2020-02-18T10:49:37-05:00Categories: 47,XXY (Klinefelter)|Tags: Quality of life|

VIDEO: The Cognitive and Behavioral Profile of 47,XXX (Trisomy X): A Research Approach

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

Watch Video

Rick Frith2018-08-28T11:23:37-04:00Categories: 47,XXX (trisomy x)|

Thinking outside the square: considering gender in Klinefelter syndrome and 47, XXY

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.”

Rick Frith2018-08-28T12:01:34-04:00Categories: 47,XXY (Klinefelter)|

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.”

Rick Frith2018-09-02T15:58:50-04:00Categories: 47,XXY (Klinefelter), Other Variations|

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/Purpose of Study: Physical Fitness and Quality of Life Assessment in Children and Adolescents with Klinefelter Syndrome

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

Genders being studied: Male

Age Range: 10-17 years

Other eligibility requirements: Patients must know their Klinefelter syndrome diagnosis, speak English, and be able to travel to Chicago, if live out of state. Participation in all days is encouraged but not required.

Travel required: Yes

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

Principal Investigator(s): Courtney Finlayson, MD

Link to a more detailed description: Study flyer | Register for the study

Primary funding source(s): Ann & Robert H. Lurie Children’s Hospital of Chicago

Primary Contact: Danielle Lee, Leeda@luriechildrens.org, 312-227-6203

Date Posted: August 7, 2024 (updated June 5, 2025)

Name/Purpose of Study: Exploring the Transition From Pediatric to Adult Care in Patients with Klinefelter Syndrome

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

Genders being studied: No restrictions based upon gender

Age Range: 14-26 years

Other eligibility requirements: Diagnosis of 47,XXY/Klinefelter syndrome. Participants must be able to speak English.

Travel required: No. Study involves an online survey and an optional post-survey interview, also conducted remotely.

Sponsoring Institution: University of Colorado

Principal Investigator(s): Susan Howell, MBA, MS, CGC

Link to a more detailed description: Study flyer

Primary funding source(s): University of Colorado

Primary Contact: Aaron Holben, aaron.holben@cuanschutz.edu, 360-635-7001

Link to the online survey

Date Posted: December 7, 2023

Name/Purpose of Study: The ASSERT: All StakeholderS Engaged in Research Together project seeks to engage people on the autism spectrum, with Down syndrome, or with other intellectual or developmental disabilities (IDD) along with caregivers, clinicians, and researchers. The goal is to build an online learning community where these stakeholders learn about research together in a way that is collaborative and multidirectional (all learners gain knowledge from each other).

X and Y variations being studied: All

Genders being studied: All

Age Range: 18+

Other eligibility requirements: People ages 18 or older on the autism spectrum, with Down syndrome, or with IDD; caregivers (including adult siblings) of a person on the autism spectrum, with Down syndrome, or with IDD; clinicians who care for those on the autism spectrum, with Down syndrome, or with IDD; and researchers engaged in research focused on the autism spectrum, Down syndrome, or IDD. Must have internet access and a web-capable device.

Travel required: No

Sponsoring Institution: Vanderbilt University

Principal Investigator(s): Beth Malow, MD, MS

Link to a more detailed description: vkc.vumc.org/studyfinder/552 | Study Brochure

Primary funding source(s): Vanderbilt University

Primary Contact: assert@vumc.org

Date Posted: May 13, 2022

Name of Study: MyPaTH Story Booth

X and Y variations being studied: All

Genders being studied: All

Age Range: 18+ years

Other eligibility requirements: Able to read and understand English

Travel required: No, interview by phone

Sponsoring Institution: Patient-Centered Outcomes Research Institute

Principal Investigator(s): Kathleen McTigue, MD, University of Pittsburgh, UPMC, PaTH CDRN

Link to a more detailed description: www.pathnetwork.org/research/MyPaTH_story_booth.html | Study Flyer

Primary funding source(s): Patient-Centered Outcomes Research Institute

Primary Contact: mystory@pitt.edu | 412-208-5241

Date Posted: February 19, 2020

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 Frith2025-06-05T15:25:04-04:00