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The Mission of AXYS Donate to the XXYY Project The mission of AXYS About the XXYY Project To help individuals with one or more The XXYY Project was organized by extra X or Y chromosomes and members of the XXYY Parent Network, their families to live fuller and more an informal association of parents, productive lives. founded in 1998. It currently operates under the umbrella of AXYS, the AXYS serves individuals and families association of X and Y chromosome affected by Sex Chromosome variations. Aneuploidy including: The XXYY Project offers information • 47,XXY (Klinefelter syndrome) and support for affected individuals • 47,XYY (Jacobs syndrome) and family members world-wide. XXYY • 47,XXX (Trisomy X) events are held around the world. • 48,XXYY and 48,XXXY The Project takes part in the biennial AXYS Family Conferences. The XXYY Project has also been instrumental in expanding the AXYS Clinic and Research Consortium and in promoting research projects into XXYY Syndrome. Donate to the XXYY Project The XXYY Project operates as a project of AXYS, a 501c3 organization. We rely on donations to fund our important support, advocacy and education work. Please consider making a tax deductible, online donation to the XXYY Project by visiting the AXYS website, and clicking on XXYY Contact the XXYY Project Project in the drop down box. P. O . Box 659, Paoli, PA 19301 www.genetic.org/donate/ Phone (Toll-free): 1-888-999-9428 [email protected] facebook.com/xxyyproject © 2019 AXYS What is XXYY Syndrome? What are the symptoms? What are possible treatments? Typical males are born with only one X and one XXYY is often mistaken for other syndromes. The Speech, occupational and physical therapy can Y chromosome. Males with XXYY have two most common symptoms and characteristics be very helpful in decreasing developmental of each, for a total of 48 chromosomes. XXYY noticeable by parents and medical professionals delays. Many boys benefit from special is sometimes written as 48,XXYY. This is one include: education and structured behavioral programs in of the X and Y chromosome school. Medications to address ADHD, anxiety variations, also known • Developmental delay and mood disorders can be helpful. Hormone as sex chromosome • Speech impairment therapy can be initiated for boys who cannot aneuploidy, a difference • Tall stature, considering family history make adequate testosterone on their own. in the typical number. • Behavior outbursts and mood swings Approximately one in • Learning disabilities; possible low IQ Common myths 17,000-18,000 boys is • ADHD born with XXYY. XXYY • Autism spectrum disorder Many families are distressed to hear frightening is a neurodevelopmental • Allergies, asthma, other respiratory conditions myths about XXYY. Contrary to what is stated in disorder. • Tremors some old medical texts: • Seizures • Not all males with XXYY have intellectual XXYY was once considered • Delayed or incomplete puberty disability. Recent research finds that only 26% to be a variation of • Undescended testicles have IQs below 70. Klinefelter syndrome, • Testosterone deficiency • Males with XXYY are no more likely to display 47,XXY. Although the two • Breast development (gynecomastia) criminal behavior than any other individuals. genetic disorders share • Infertility • While some males with XXYY will require some symptoms, research • Low muscle tone supervised residential placement in adulthood, has established that XXYY has its own distinct • Flat feet many can live independently with community characteristics. Symptoms are often more • Curved little finger (clinodactyly) supports. numerous and severe, and may require special • Significant dental problems • People with XXYY are typically born male, and treatment and management. • Cardiac problems only rarely have ambiguous genitalia. How is XXYY diagnosed? Not all males with XXYY experience all of these symptoms. Diagnosis for XXYY is done through genetic testing, called a karyotype or a microarray. Is there a cure? The test involves a blood sample to analyze chromosomes. In some cases, a male may There is no cure for XXYY. However, new research have some normal XY cells as well as some into XXYY syndrome is helping to develop XXYY cells. This is called mosaicism. treatment that can improve the lives of affected boys and men..
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  • 48,XXYY Syndrome Presenting with Long-Term Infertility and Newly
    Alhalabi and Alhalabi Journal of Medical Case Reports (2020) 14:58 https://doi.org/10.1186/s13256-020-02375-z CASE REPORT Open Access 48,XXYY syndrome presenting with long- term infertility and newly observed neck deformities: a case report Mohammad Marwan Alhalabi1* and Marwan Alhalabi2 Abstract Background: Long-term infertility can be attributed to many factors, with the genetic factor being the most overlooked due to its many nonspecific morphological or endocrine signs. We present a rare case of a patient with progressive testicular failure associated with 48,XXYY syndrome. Case presentation: A 39-year-old Arab man presented to our fertility clinic for fertility treatment. He was diagnosed with primary infertility, which had been present for 20 years at the time of presentation. Our patient had nonspecific morphological features of an abnormally wide neck with front slouching neck posture, clinodactyly of the third finger, and had moderate hypoandrogenemic features. A semen analysis revealed azoospermia. Genetic tests for azoospermia, including sex-determining region Y (SRY) detection and chromosome Y microdeletion, revealed no deletion present on the Y chromosome. Karyotyping was used and our patient was diagnosed with 48,XXYY syndrome. Conclusion: Genetic testing (karyotyping and so on) played a key role in the diagnosis of our patient with long-term primary infertility secondary to 48,XXYY syndrome, and should play a vital role in all cases of long-term infertility, especially when presentation is accompanied by endocrine, skeletal, or morphological symptoms, signifying an underlying genetic factor. Keywords: aneuploidy, sex chromosomes, clinical manifestations, diagnosis, genetics, infertility Background 48,XXYY syndrome and could include radio-ulnar synos- 48,XXYY syndrome was first described in the medical lit- tosis, osteoporosis, hyperostosis, pseudoepiphysis, kyphos- erature in 1960 by Muldal et al.
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