Diagnosing Klinefelter’s Syndrome

Doctor KSKlinefelter’s syndrome (KS) is a proven genetic condition that affects only the male population. Males who are affected by KS usually have an extra X chromosome but there are other variations also. Overall it means that the male testes to not develop correctly and do not produce enough testosterone for what the male body requires and the sexual characteristics don’t develop the same way a male without KS would.

Early Diagnosis

Due to the symptoms shown in a child who might have KS are hugely broad and vary it is difficult to associate the symptoms suffered and attach them with this particular syndrome. Children with KS may struggle to meet mile stones in terms of coordination, walking, speech and in older children or children of school age may find it hard to concentrate, have lack of attention and school work may be found to be difficult. All that is mentioned above could be related to other problems or the child may have nothing wrong with them atall.

There are tests that can be done while a woman is pregnant to establish if the child suffers from any syndromes or genetic disorders but in general these tests are usually only offered to women who may be considered high risk for carrying a baby with chromosomal disorder. There are two different types of test that can be carried out on a pregnant woman to check for chromosome abnormalities.
◾The first being chronic villus sampling or a CVS, which is a diagnostic test to establish whether if any atall chromosomes or genetic conditions are present. It is usually carried out when the pregnant women is between 11 and 13 weeks pregnant. The procedure includes a fine needle being passed through the stomach of the pregnant women and into the womb so that a sample of the placenta can be taken and analysed. The placenta which is attached to the womb mirrors the exact cell makeup of the unborn baby so by taking a sample of it which is known as chorionic villi and testing it in the lab, can be used to prove if the unborn baby has any chromosome abnormalities.
◾The second test is an amniocentesis which is carried out a little later than a CVS at between weeks 15 to 18 of a pregnancy. It is done at a later stage as an amniocentesis involves extracting amniotic fluid from the amniotic sack and before 15 weeks there may not be a safe amount of fluid for some to be taken out. The amniotic fluid which acts as a security blanket around the unborn baby protecting it contains cells that have shred from the unborn babies skin and can be used to examine its chromosomes. The fluid is extracted using a fine needle through the pregnant woman’s stomach and fluid is taken out. Tests are then carried out on the fluid. Both tests are not routinely done and do carry certain risks.

Later Diagnosis

Diagnosis of Klinefelter’s syndrome is more likely to take place during puberty when a male will have a surge of testosterone if a lack of testosterone is released it may become noticeable. Again teens can have general symptoms which are associated with KS but which can also be linked to other problems or problems that may just correct themselves such as intellectual difficulties, again poor coordination and may develop different where height is concerned but all such symptoms may prove not to be connected to KS. The symptoms which may show a more direct connection could be when a males genitals to not develop correctly, they may have small testes that do not function in creating the right amount of testosterone needed for the male body, the penis may be considered small, male breast may be considered big and an opening may develop on the underneath of the penis. The male may have a reduction in facial and body hair. All symptoms may not be presents depending on the severity of the KS and if the symptoms are mild it may go unnoticed until the male wants to have children. The majority of males with KS produce little to no sperm so many are infertile and do not know they suffer with KS until there infertility is diagnosed. In order to diagnose KS a blood test called a karyotype is taken and the chromosomes are examined if the presence of an extra X chromosome is present Klineflter’s syndrome is diagnosed. More info here www.geneticseducation.nhs.uk/genetic-conditions-54/680-klinefelter-syndrome-new.