What is 48 xxyy syndrome

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Alhalabi, M. J Med Case Reports 14, 58 Download citation. Received : 05 December Accepted : 19 March Published : 11 May Anyone you share the following link with will be able to read this content:. Sorry, a shareable link is not currently available for this article. Provided by the Springer Nature SharedIt content-sharing initiative.

Skip to main content. Search all BMC articles Search. Download PDF. 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.

Case presentation A year-old Arab man presented to our fertility clinic for fertility treatment. 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.

Full size image. Molecular polymerase chain reaction PCR study showing no microdeletion in the Y chromosome. Peripheral blood karyotype of our patient showing 48,XXYY. Discussion Despite XXYY syndrome initially being considered a variant of Klinefelter syndrome, now it is widely regarded as a separate clinical syndrome with psychological, morphological, and neurodevelopmental involvement [ 9 , 10 , 11 ].

Conclusions Our patient had a rare case of long-term primary infertility and progressive testicular failure secondary to 48,XXYY syndrome. Availability of data and materials Data sharing not applicable to this article as no data sets were generated or analyzed during the current study. References 1. Article Google Scholar 3. PubMed Google Scholar 4. Article Google Scholar 8. Article Google Scholar 9. Article Google Scholar Google Scholar Article Google Scholar Download references.

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Guo H If you do not want your question posted, please let us know. National Institutes of Health. COVID is an emerging, rapidly evolving situation. Menu Search You can help advance rare disease research! This site is in-development and may not reflect the final version. Preview the new GARD site. Other Names:. This disease is grouped under:. Numeric sex chromosome variations. Summary Summary. Symptoms Symptoms. Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone , which is the hormone that directs male sexual development.

A shortage of testosterone during puberty can lead to reduced facial and body hair, poor muscle development, low energy levels, and an increased risk for breast enlargement gynecomastia. Because their testes do not function normally, males with 48, XXYY syndrome have an inability to father children infertility. Do you have updated information on this disease? We want to hear from you. Cause Cause. People normally have 46 chromosomes in each cell.

Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. The occurrence of 48, XXYY is 1 in 17, live male births. Diagnosing 48,XXYY requires a genetic test called a karyotype.

A karyotype is the only way to know for certain that a boy or man has 48,XXYY. Many boys and men with XXYY have similar facial features, plus several other physical features that are associated with the condition. Does your son or patient look like the boys and men in these photos?

These are all different boys and men. We know that more genetic testing is being done on children with autism, but there may be adults out there who were never tested. Those wishing to purchase a soft-bound copy can do so at Amazon or Kindle. All proceeds from the sale of this book benefit AXYS. At this time there is no known cause, such at maternal age, for 48,XXYY. No, since 48,XXYY is a random error, it is not hereditary.

Parents who have one child diagnosed with 48,XXYY are no more likely to have a second.