Among the neonatal pathologies that most alarm couples expecting a child, there is one that, although it has a "strange" name, is much more common than it may seem. This is Klinefelter syndrome (KS), which only affects males and has an estimated, but never fully confirmed, prevalence of 1 affected per 500 births.
It is one of the most common forms of aneuploidy: anomaly in the number of chromosomes: Males typically have 46, which includes a pair of sex chromosomes, X and Y; People with this syndrome have at least one more sex chromosome than the normal XY set and a total number of 47 o more chromosomes.
Although statistically not that rare, the KS is still underdiagnosed y misunderstood. It is no coincidence that in the past, the diagnosis was made exclusively in adulthood, “when the condition was recognized due to problems attributable to infertility in the couple.
What is Klinefelter Syndrome?
As we have commented, syndrome by Klinefelter is a chromosomal disease characterized by the presence of an extra X chromosome in males. It is due to a random error during meiosis: the paternal XX or maternal XY chromosome pair does not separate and the embryo thus receives two X chromosomes in addition to the Y chromosome.
Klinefelter syndrome presents with delayed or incomplete puberty, little hair, highly developed breasts, and infertility. Affected people are also more likely to experience conditions such as depression, anxiety, learning and language problems.
Diagnosis is made through a physical exam, blood tests to assess the levels of certain hormones, and a karyotype test, which is helpful in highlighting the extra X chromosome.
Klinefelter syndrome, first described in 1942 by Professor Henry Klinefelter, is the most common cause of hypogonadism , a clinical condition characterized by low testosterone (male hormone) production and reduced testicular volume. Its incidence is around 1:500-1000 live births and it has recently been removed from the group of rare diseases and considered a chronic disease.
Causes that can give Klinefelter syndrome
alteration does not result from improper maternal or paternal behavior (although maternal age over 35 seems to play a role) and is not hereditary; therefore, unlike other chromosomal diseases, Klinefelter syndrome does not run in families, and parents who have a sick child are no more likely than other couples to have another child with this condition.
What does Klinefelter Syndrome involve?
If today is the prenatal diagnosis which makes it recognizable, such an early prognosis nevertheless poses problems of communication and acceptance by the Parents, to whom it is necessary to clearly express what the problems of their children: minor disabilities motor, linguistics, of learning and founded probability of not being able to procreate. Potential difficulties, for which couples may even want to resort to an interruption of pregnancy, motivated above all by ignorance of this syndrome.
It is good to know, however, that children will be able to profitably attend school courses, practice sports, maintain regular affective relations and have a sexual activity with total normality, underlines I graph.
The pharmacological pillar of treatment is therapy with testosterone.
That must be taken for life to counteract the hormonal picture altered by the chromosomal set. In this context, there is some problem in obtaining the various testosterone formulations currently available, such as transdermal patches or gels and injection therapy with long-acting preparations, since the dispensing is extremely varied and not accessible in all delivery systems. health.7
Treatment includes testosterone replacement therapy and, in some cases, speech, behavioral, physiotherapy and surgical support (to remove excess breast tissue).
The prognosis is good and life expectancy is equal to that of the general population.