Parent FAQ

Q. What is the cause of 48 XXYY?

At this time there is no known cause, such at maternal age, for 48 XXYY. 48 XXYY occurs due to a spontaneous random error during cell division at conception.  There has also been one reported case of a father with XYY having a son with XXYY.

Q. Is 48 XXYY hereditary?

No, as previously mentioned, 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.

Q. Can girls or women have 48 XXYY?

No. In general, women have 2 X chromosomes and when an individual has an Y chromosome, they are male. Read our intersex notice for more details.

Q. Is there any cure?

No. In theory, a cure would mean that every cell in the body of a person with 48 XXYY would have to have the additional X and Y chromosome removed.  This is not medically possible at this time.  However, treatments for the various symptoms and other overlapping diagnoses is normal for those diagnosed with 48 XXYY Syndrome.

Q. Do all boys and men with 48 XXYY take testosterone?

No. It is generally recommended that boys and men are treated with testosterone as it affects not only their physical well-being, but has emotional and psychological benefits. Treatment options vary by country and region, and as with any medical treatment, individual choice is always a factor.

Q. What is the normal IQ range of boys and men with 48 XXYY?

IQ scores can be extremely subjective, and are not always an indicator of academic or career success. Boys and men with 48 XXYY have a varied range of IQ abilities, much like the general population. Some geneticists indicate that each extra chromosome results in a 5 point decrease in IQ score.

Q. Can those with 48 XXYY also have other medical diagnoses, like autism?

Yes.  In fact, unless diagnosed in utero, or in early childhood, many boys and men are not diagnosed with 48 XXYY Syndrome until their late teens, when low testosterone symptoms begin to manifest.  This is largely due to other diagnoses giving throughout childhood which have been used to rationalize their behaviours (ie. autism, ADD), medical issues (ie low muscle tone, heart problems) and academic results (ie. learning disabilities, ADD).

Q. How do I know if another medical diagnoses is due to 48 XXYY?

Research on 48 XXYY Syndrome is incomplete. Due to the rare nature of 48 XXYY Syndrome, it is often through anecdotal information of connected parents who discover links that may indicate a diagnoses is related to 48 XXYY Syndrome.  The XXYY Project recommends that all parents join our parent network, as we are continuously encouraging parents to share additional diagnoses to see if there might be a link.

Q. Where can I find medical professionals who know about 48 XXYY?

Due to the rare nature of 48 XXYY, it is uncommon to find individual doctors, or therapists that have experience with 48 XXYY. Most will only ever see one: your child.  There are clinics in the United States, such as the eXtraordinarY Kids Clinic, which specializes in X & Y chromosome variations.  Contact the XXYY Project’s Clinic Liason for more information.  More clinics are opening and together with AXYS, we hope to have a whole network of them.

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