One of the most common genetic abnormalities is the appearance of a extra sex chromosome, which causes the subject instead of having two chromosomes that determine sex to have three, that is, instead of XX or XY XXY. It is known as Klinefelter syndrome, although many of the carriers of the triple sex chromosome do not develop any symptoms.
It occurs in one every 500 or 1000 births of men but, as I said, the syndrome, that is, the symptoms and possible related problems, is not common and, until recently, men who had this peculiarity grew up without being aware of any anomaly and developed a normal sex life. Even in certain cases where there are enough cells functioning normally in the testicles these men may have children.
Gametes with double chromosome endowment can come from women or men. That is, it can be an ovule that had double X endowment or a sperm that carried X and Y, in both cases due to a problem in the formation of these haploid cells.
The diagnosis
The diagnosis now occurs many times in pregnancy, being discovered after an aminiocentesis or chorion biopsy, in which the sample is analyzed to discover genetic abnormalities. In other cases, the diagnosis may be during childhood because a developmental problem has been detected, in adolescence due to an arrival from puberty or in adulthood, due to fertility or breast cancer problems.
Normally, in pregnancy, both amniocentésis or biopsy are performed in special cases and the discovery of this genetic abnormality can cause a lot of fear to the family, even if it is explained that there should not be any further problems. It is good to be able to have a diagnosis from birth, because in this way the necessary measures can be taken precisely to avoid possible complications related to triple sex chromosome, XXY.
Possible difficulties
Children with XXY they may take a little longer than usual to learn to speak and also have difficulties with reading and writing, nothing that specialized attention cannot solve. Some are more shy than most, but there is no mandatory profile and diversity is very large among them. The usual thing is that the child does not show any particularity.
In some cases the problem in language acquisition may be more severe and some, few, of these children do not speak until four or five years. In addition, throughout life, some individuals point out that they have difficulty expressing feelings or emotions in words, although their understanding of language is completely normal.
Puberty can be the beginning of some problems, as some boys suffer from enlarged breasts, which makes their integration very difficult and can cause them sadness and poor acceptance of their body image with the consequent problem of self-esteem.
Although this only appears in one in 10 men with XXY it is important to be attentive to help the boy and see a doctor if necessary. We must not forget how delicate this stage is and how important is the image of virility and acceptance of the group for adolescents.
Finally, in adulthood, we can find diagnoses in men who never suspected this circumstance and have a completely normal and virile appearance and sexual life. However, when they get to do a fertility test on a couple with difficulties in conception, they discover this by having certain tests.
There are also cases in which only part of the cells have the triple chromosome, the others being normal, only XY, being in these cases in which it is possible for these men to have children.
There is also a quadruplication of chromosomes, less common, and that can be related to problems of sexual behavior, violence and mental retardation, but it is also not possible to determine with certainty whether it occurs in all cases or rather, than only those who develop these behaviors and characteristics in more extreme degree They are the ones that have been studied.
In some cases, XXY is related to intersex individuals, but it is a minimum percentage and we will talk about another issue of this characteristic.
Klinefelter syndrome
If the XXY carrier child develops the Klinefelter syndrome It can have some of these characteristics: being tall and thick, having dental alterations, penis and testicles of small size or with malformations, lack of sperm, depression and other emotional disorders, speech delay, gynecomastia, low self-esteem.
One of the most serious problems is the existence of a certain predisposition to develop breast cancer, in greater proportion than XY men. In addition, when there are pronounced sexual alterations, a testosterone treatment can be prescribed to alleviate the most adverse effects of the syndrome.
In the case of adolescents, if they reach normal age, they do not develop normal puberty symptoms such as pubic hair growth, genital size and libido development, it is advisable to go to the doctor to assess a possible syndrome of Klinefelter, especially if the breasts increase in size.
Tell it
When parents are informed that the child they expect is XXY carrier They find an additional concern, how and when to explain it to the family and the child.
It is generally advised not to say it immediately, so as not to provoke fears or a vision of the child already predisposed. Later, when the child is well and it can be verified that it is normal, explain to the family the possible consequences of the triple sex chromosome.
With the child it is more complicated. On the one hand, it is better to be aware when before, because they will not suspect that something is hidden from them or be enraged or feel cheated if we wait long. Of course they should know before adolescence but maybe not long before, so they don't fall into telling very personal details to friends who can then use them to make fun of them.
Conclusion
The bearer of a XXY triple sex chromosome It will give the child, especially if it is previously known and can act if there is a small problem, a normal life and is a fairly common alteration in humans.
