The Sexual Politics of Autism

Article Title: The Sexual Politics of Autism

Author: Virginia Hughes

Date of Publication: July 14, 2014

“Imagine you walked down the street and asked random people what autism is. What would they say? My guess: They’d talk about social skills, and the rising prevalence, and probably the vaccine nonsense. And they’d almost certainly mention that it happens to boys.

The idea that autism is a mostly male disorder is pervasive in the news, pop culture, and scientific circles. And it’s not just an academic curiosity. Last year a popular fertility clinic in Sydney, Australia, reported that about five percent of couples went through in vitro fertilization just so they could select a female embryo and thus lower the kid’s risk of developing autism.

The sex skew in autism is real: A diagnosis of autism is almost five times more common in 8-year-old boys than in 8-year-old girls, according to the latest statistics from the CDC.”

Rick Frith2018-08-12T14:07:22-04:00Categories: All Variations|

Latest Testosterone Study Finds No Heart Attack Risk

Article Title: Latest Testosterone Study Finds No Heart Attack Risk

Author: Nancy A. Melville

Date of Publication: July 3, 2014

“In the latest addition to the ongoing debate over the safety of testosterone treatment, researchers report no significant increased heart attack risk in older men treated with an intramuscular form of the therapy.

The study, published online this week in the Annals of Pharmacotherapy, compared 6,355 Medicare beneficiaries treated with testosterone with 19,065 who were not, between January 1997 and December 2005, and showed no increased risk of myocardial infarction (MI) in the treatment group (hazard ratio [HR], 0.84; 95% confidence interval [CI], 0.69 – 1.02).”

Read more (requires free Medscape registration)

Rick Frith2018-09-28T10:59:51-04:00Categories: 47,XXY (Klinefelter)|

Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile

Article Title: Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile

Authors: A. Skakkebæk, C.H. Gravholt, P.M. Rasmussen, A. Bojesen, J.S. Jensen, J. Fedder, P. Laurberg, J.M. Hertz, J.R. Ostergaard, A.D. Pedersen, M. Wallentin

Date of Publication: October 29, 2013

“Brain imaging in Klinefelter syndrome (47, XXY) (KS), a genetic disorder characterized by the presence of an extra X chromosome, may contribute to understanding the relationship between gene expression, brain structure, and subsequent cognitive disabilities and psychiatric disorders. We conducted the largest to date voxel-based morphometry study of 65 KS subjects and 65 controls matched for age and education and correlated these data to neuropsychological test scores. The results show that although gene dosage effect of having an extra X-chromosome may lead to large scale alterations of brain morphometry and extended cognitive disabilities. No simple correspondence links these measures.”

Rick Frith2018-08-13T11:10:08-04:00Categories: 47,XXY (Klinefelter)|

Klinefelter’s syndrome (XXY) as a genetic model for psychotic disorders

Article Title: Klinefelter’s syndrome (XXY) as a genetic model for psychotic disorders

Authors: L.E. DeLisi, A.M. Maurizio, C. Svetina, B. Ardekani, K. Szulc, J. Nierenberg, J. Leonard, P.D. Harvey

Date of Publication: May 5, 2005

“Males with an extra-X chromosome (Klinefelter’s syndrome) frequently, although not always, have an increased prevalence of psychiatric disturbances that range from attention deficit disorder in childhood to schizophrenia or severe affective disorders during adulthood. In addition, they frequently have characteristic verbal deficits. Thus, examining brain magnetic resonance imaging (MRI) scans of these individuals may yield clues to the influence of X chromosome genes on brain structural variation corresponding to psychiatric and cognitive disorders.”

Rick Frith2018-08-13T13:45:33-04:00Categories: 47,XXY (Klinefelter)|

Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome

Article Title: Effects of short‐course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome

Authors: Carole A. Samango‐Sprouse, Andrea L Gropman, Teresa Sadeghin, Madison Kingery, Margaret Lutz‐Armstrong, Alan D. Rogol

Date of Publication: March 1, 2011

“The aim of this investigation was to ascertain whether an early course of androgen treatment (three injections testosterone enanthate, 25 mg) could have a positive impact on any domains of neurodevelopmental function in boys with 49,XXXXY.

Our findings revealed improved function in several areas of development which had been severely delayed in boys with 49,XXXXY. Continued research is underway to expand our understanding of the relationship of androgen, brain function and behavioural outcome in boys with 49,XXXXY.”

Rick Frith2018-08-16T12:45:13-04:00Categories: Other Variations|Tags: 49XXXXY|

IEP and Lesson Plan Development Handbook

Article Title: IEP and Lesson Plan Development Handbook of Specially Designed Instruction and Supplementary Aids and Services

Authors: Kentucky Special Education Cooperatives and Kentucky Department of Education

Date of Publication: August 2003

“In designing an Individual Education Program (IEP) for a student, the ARC must determine specific instructional strategies that teachers must use and the supplementary aids and services that the student needs in order for the student to have access to the Program of Studies (i.e., the general program).

This handbook is one resource that provides some examples of Specially Designed Instruction (SDI) and Supplementary Aids and Services (SAS) that might be used to support the student’s goals, benchmarks, and objectives on his/her IEP.”

Rick Frith2018-08-25T16:25:36-04:00Categories: All Variations|

Vulnerability for autism traits in boys & men with an extra X chromosome (47,XXY): the mediating role of cognitive flexibility

Article Title: Vulnerability for autism traits in boys and men with an extra X chromosome (47,XXY): the mediating role of cognitive flexibility

Authors: Sophie van Rijn, Marit Bierman, Hilgo Bruining, Hanna Swaab

Date of Publication: August 11, 2012

“Our findings suggest that KS can be associated with dysfunctions in mental flexibility, and that individuals with more mental flexibility problems also have more autism traits. This insight is relevant for diagnosis, prevention and treatment of severe problems in individuals with KS. Implications also extend beyond this specific syndrome. As executive dysfunctions in KS have also been linked to ADHD symptoms and thought disorder, this could be a shared mechanism contributing to overlap in symptoms and comorbidity between different psychiatric conditions.”

Rick Frith2018-08-25T16:50:06-04:00Categories: 47,XXY (Klinefelter)|

Unique – XYY: Understanding Chromosome Disorders

Article Title: Unique – XYY

Authors: Unique – Rare Chromosome Disorder Support Group

Date of Publication: 2006

“Approximately 1 boy in 1000 has XYY chromosomes. In the cells of their body, instead of 46 chromosomes including one X and one Y chromosome, they have one X and two Y chromosomes, making 47 in all. The impact of the extra Y chromosome is extremely variable. The great majority of boys and men with an extra Y chromosome are never aware of it, because they do not have symptoms that lead to a diagnosis. Only a small fraction of boys and men with XYY are ever diagnosed: recent estimates suggest 2.5% in the United Kingdom and 20% in Denmark.

Rick Frith2018-09-06T10:48:52-04:00Categories: 47,XYY|

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

About the ACRC Clinics

Since 2015, the scientists and researchers of the AXYS Clinic and Research Consortium (ACRC) collaborate, share information, and explore opportunities to participate in joint research projects. In addition, AXYS organizes annual meetings of the consortium where members meet to discuss topics important to the X & Y variation community.

Types of Clinics

Due to the many X & Y Chromosome variations, not all clinics specialize in all conditions. Below is a listing of ACRC clinics. The specific conditions and patient ages served by the clinic are noted in the description.

Multidisciplinary Clinics

Some clinics use a multidisciplinary approach, offering medical, psychological, and therapy services in one visit. Providers collaborate to create coordinated care plans and may offer take-home materials for local professionals. Check each clinic’s website or ask when scheduling to understand its specific services.

Note: Anyone planning to visit an ACRC clinic should check with the specific clinic and their insurance provider to see if they have coverage

California

Los Angeles
Cedars Sinai Hospital: eXemplarY Kids Clinic
X and Y variations seen: All
Ages seen: Birth to age 21
Medical Director: Co-Directors: Yana J. Tavyev MD and B. Michelle Schweiger, DO, MPH
Appointments/Clinic Coordinator: Katie Grand, MS, LCGC, 310-423-9935
Hospital website

Sacramento
XY Chromosomal Variation Clinic
X and Y variations seen: All X and Y Chromosomal Variations
Ages seen: Adults and children
Adult and Pediatric Clinic Medical Director: Daniah Beleford, MD, PhD, FACMG
Active Clinical X/Y Variation Researcher: Daniah Beleford, MD, PhD, FACMG
Clinic Coordinator/Questions: Samantha Runa, MS, CGC, Clinical Genetics, sruna@ucdavis.edu, 916-703-3032
Referral and Appointments: : 916-703-0300 (Option #4) | Fax: 916-703-0350
Clinic Website

Stanford
Stanford University School of Medicine
X and Y variations seen: All
Ages seen: Children and Young Adults
Medical Co-directors: David Hong, MD and Allan Reiss, MD
Appointments/Clinic Coordinator: Lucia Gutierrez, lgutierrez@stanford.edu, 650-498-4538
Hospital website

Colorado

Denver
Children’s Hospital Colorado: eXtraordinarY Kids Clinic
X and Y variations seen: All
Ages seen: Prenatal to young adulthood
Medical Director: Nicole Tartaglia, MD
Clinic Coordinator: Susan Howell, MS, MBA, CGC
Appointments: 720-777-8361 or extraordinarykidsclinic@childrenscolorado.org
Clinic website

Delaware

Wilmington
Nemours Alfred I. duPont Hospital for Children: eXtraordinarY Kids Clinic
X and Y variations seen: All
Ages seen: Prenatal to young adulthood
Medical Director: Judith Ross, MD
Co-Director: Chijoke Ikomi, MD, chijioke.ikomi@nemours.org
Appointments/Clinic Coordinator: extraordinarykidsclinic@nemours.org, 302-298-8392
Clinic website | Clinic brochure

Denmark

Aarhus University Hospital
Address: Department of Endocrinology Aarhus University Hospital
X and Y variations seen: All
Ages seen: Children and Adults
Medical Director: Else Vestbo
Contact: Dr. Anne Kirstine Stochholm Krag, annkra@rm.dk
Additional clinicians and researchers:

Dr. Marie Juul Ornstrup
Dr. Claus Gravholt

Phone: 0045 78455470
Clinic website

Georgia

Atlanta
Emory University: The eXtraordinarY Clinic at Emory University
X and Y variations seen: All
Ages seen: Birth to young adulthood
Medical Director: Amy L. Talboy, MD
Appointments: 404-778-1363
Website

Illinois

Chicago
Rush University Medical Center
X and Y variations seen: All
Ages seen: Birth to young adulthood
Medical Director: Elizabeth Berry-Kravis, MD, PhD
Clinic Coordinator: Angel Wang and Milica Milic
Appointments: 312-942-3034 or 312-563-4937

Chicago
Ann & Robert H. Lurie Children’s Hospital of Chicago
X and Y variations seen: All
Ages seen: Prenatal to young adulthood
Medical Director: Courtney Finlayson, MD
Appointments: Danielle Lee, MSW, Program coordinator, 312-227-6203
Website

Maryland

Baltimore
Johns Hopkins: 47,XXY Klinefelter Syndrome Center
X and Y variations seen: Klinefelter syndrome; male infertility.
Ages seen: Children and adults
Medical Director: Adrian Dobs, MD
Appointments: Hopkins USA Concierge Service, 855-695-4872 (Monday-Friday, 8am – 6pm ET)
Clinic website

Massachusetts

Boston
MassGeneral Hospital Klinefelter Syndrome Clinic
X and Y variations seen: Klinefelter syndrome (47,XXY), 47,XYY, 48,XXYY, 48,XXXY, and other male X and Y chromosome variations
Ages seen: Prenatal through adulthood
Medical Director: Frances High, MD, PhD and Frances Hayes, MBBCh, BAO
Appointments/Clinic Coordinator: 617-726-5521
For MGH Trisomy X care, call Medical Genetics at 617-726-1561
Clinic website

The Netherlands

Leiden
TRIXY Centre of Expertise, Leiden University
X and Y variations seen: XXY, Trisomy X, XYY
Ages seen: 0-18 years, adults
Medical Director: Prof.dr. Hanna Swaab
Appointments: TRIXY, part of Leids Universitair Behandel en Expertise Centrum (LUBEC) ambulatorium@fsw.leidenuniv.nl | +31-71 527 40 63
Clinic Website

New York

New York City
Weill Cornell Medicine Klinefelter Syndrome Clinic, Weill Cornell Medical College
X and Y variations seen: All
Ages seen: Birth to young adulthood
Director: Lilian Cohen, MD MPH
Clinic Coordinator: Lilian Cohen, MD MPH
Clinic website | 646-962-2205

Ohio

Cleveland
eXtraordinarY Kids Care at Cleveland Clinic
X and Y Variations seen: XXY and other X & Y variations
Ages seen: Prenatal to young adulthood
Medical Director: Andrea Mucci, MD
Appointments: 216-444-7987
Clinic website

Pennsylvania

Philadelphia
Children’s Hospital of Philadelphia: Klinefelter and All XY Variations Program
X and Y variations seen: All
Ages seen: Prenatal to young adulthood
Medical Director: Maria Vogiatzi, MD
Clinic Coordinator: Meagan Snow-Bailey, 215-590-3174
Clinic website
Read more about this clinic in this AXYS Clinic Spotlight Article

Philadelphia
Penn Adult Klinefelter Syndrome Program
X and Y variations seen: Klinefelter syndrome (47,XXY)
Ages seen: Above 18 years
Medical Director: Amna N. Khan, MD
Clinic Coordinator: Megan Lee, megan.lee@pennmedicine.upenn.edu, 215-614-0086

United Kingdom

London
The Adult & Young Person’s Klinefelter Syndrome Clinic, UK
X and Y variations seen: All variations
Ages seen: Children and adults
Medical Director: Mr. Tet Yap MD, MA, FRCS, FEBU
Appointments: theklinefeltersyndromeclinic.com/contact (NHS)
karen.briggs@gstt.nhs.uk & dorothy.mainoo@gstt.nhs.uk
Website: theklinefeltersyndromeclinic.com

Single Specialty Clinics

The following clinics primarily focus on a single issue associated with having an X or Y variation and may not necessarily provide the comprehensive evaluation and treatment recommendations provided by the multidisciplinary clinics. If you’re unsure about the types of services provided, be sure to ask at the time you schedule your appointment.

Canada

Vancouver, British Columbia
Flannigan Fertility – Reproductive Medicine
X and Y variations seen: Male Infertility and Sexual Medicine. Genetic disorders leading to male infertility such as Klinefelter Syndrome, mixed gonadal dysgenesis (45X, 46XY), CFTR mutations leading to male infertility. Dr. Flannigan performs sperm retrievals, and fertility management.
Ages seen: Post-pubescent adult population
Medical Director: Ryan Flannigan, MD, FRCSC
Appointments: Sunny Zheng, 604-875-5683
More information by email: clinic@ubcurology.com
Clinic website

North Carolina

Winston-Salem
Wake Forest Baptist Medical Center, Department of Urology and Center for Reproductive Medicine
X and Y variations seen: 47,XXY, 48, XXYY and other male gonadal dysgenesis (Puberty and fertility preservation management for X and Y variations)
Ages seen: Children, adolescents and adults
Medical Director: Hooman Sadri-Ardekani, MD, PhD
Other faculty: Stanley J Kogan, MD and Stuart S. Howards, MD
Appointments: 336-716-4131
More information by E-mail: hsadri@wakehealth.edu
Clinic website

Rick Frith2025-09-10T11:43:10-04:00

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Research Opportunities for X&Y Chromosome Variations

Types of Clinics

Multidisciplinary Clinics

California

Colorado

Delaware

Denmark

Georgia

Illinois

Maryland

Massachusetts

The Netherlands

New York

Ohio

Pennsylvania

United Kingdom

Single Specialty Clinics

Canada

North Carolina