Looking for answers? We can help.
A doctor or other health care provider’s learning is never done. It is therefore no surprise, given the vast range of serious medical conditions affecting human beings, that many medical professionals are perhaps only vaguely familiar with X and Y chromosome variations. So we thank you for visiting this site, and we hope it will be helpful to you. We trust you will find here a useful initial storehouse of information and personal narratives that will assist your further investigation into these conditions.
The sampling of frequently asked questions below are complemented by an entire page of them that address many other aspects of sex chromosome aneuploidies. Just click here.
In addition, AXYS has developed a Clinic and Research Consortium with sites around the U.S., staffed by experts who are available for consultation on any matters pertaining to X and Y chromosome variations. Click here for a list of clinics and contact information.
Frequently Asked Questions
Males with XXYY Syndrome are often diagnosed with other medical conditions or syndromes (or they may appear to have these conditions) before the XXYY diagnosis is made. These include:
- Asperger Syndrome & Autism
- Pervasive Developmental Disorder (PDD/NOS)
- Sensory Integration Dysfunction
- Developmental Disability & Delay
- Fragile X Syndrome
- Prader-Willi Syndrome
- Speech Delays
- Heart Problems
- Hand tremors
Because many medical professionals have never had a patient with XXYY, it can be difficult to identify them. We have published this document (link below) to help you to identify potential XXYY patients. We created this booklet especially for outreach to Autism and ADHD groups and parents of children with those conditions because of the high rate of these two conditions in XXYY.
We also ask that you refer families to us.
Additionally, please note that older medical information on XXYY Syndrome is very limited and often out-dated. Males with XXYY are NOT necessarily violent. Such studies were conducted in prisons. Subjects did not have the benefit of correct diagnosis and treatment. Males with XXYY most likely DO need hormone replacement therapy. HRT does not make them aggressive. In fact, the opposite is true.
Mental Health professionals are in a unique position to assist in identifying males with XXYY Syndrome. If you see a patient with the following characteristics, coupled with other medical and learning problems or characteristics listed on this site, please refer him to his primary care physician and ask for genetic testing:
- Bi-Polar disorder
- Difficulties in social situations
- Extraordinary imagination
- Difficulty telling the truth
Males with XXYY Syndrome often have unusual reactions to medications. Parents have found that ADD medications used at high doses can positively change behavior along with helping with attentional problems. Other medications for mood stabilization, etc., can seem to work for a while but then make matters worse. We encourage parents to keep written logs of changes in behavior of any kind after beginning medication treatments.
Males with XXYY Syndrome have unique and very prominent dental problems. Look for:
- Missing adult teeth
- Poor enamel
- Poor dental hygiene
Teachers are an extremely important piece of the XXYY puzzle. Males with XXYY are visual learners. They often hide in small places (under the desk, for example) because of sensory overload. Because of hand tremors, they may have significant difficulties with writing. Behavior outbursts may also happen.
The XXYY Project will be working on developing Individual Education Plans in the future. If you are a special education teacher and would like to contribute to the project, please contact us.
Speech, Physical and Occupational Therapists
Therapists, especially speech therapists, are often the first to see a male with XXYY Syndrome since speech delay is one of the first symptoms to become apparant. Some parents have found the use of sign language when a child is young seems to reduce frustration considerably. Because of low muscle tone, males with XXYY Syndrome need strengthening exercises for all muscles. A plan that includes all three therapies is the best possible assistance that can be given to a male with XXYY Syndrome at an early age. Occupational therapy is very valuable and if it can be done in conjunction with some training for the classroom teacher, it is most beneficial.
“One thing I am rapidly learning is how much contradictory information there is about X and Y chromosome variations in the medical community. Interestingly, my baby has no developmental delays yet but he has more physical characteristics than most of the babies I have seen on the AXYS website. Clenched fists, deformed ear lobes… slanted eyes…one drooped eyelid…But he is a little ball of personality!”