Klinefelter syndrome: Description, Causes and Risk Factors:This is a sex chromosomal disorder.A chromosomal anomaly with chromosome count 47, XXY sex chromosome constitution; buccal and other cells are usually sex chromatin positive; patients are male in development but have seminiferous tubule dysgenesis, elevated plasma and urinary gonadotropins, variable gynecomastia, and eunuchoid habitus; some patients are chromosomal mosaics, with two or more cell lines of different chromosome constitution.Alternative Name: XXY syndrome.All cells in our body other than reproductive cells contain 46 chromosomes arranged in 23 pairs. 22 of these pairs are matched, these are autosomes. The other pair are the sex chromosomes, which are similar in females (XX) and dissimilar in males (XY).Sex chromosomal disorder: Individuals are born with one or more extra sex chromosomes or missing one sex chromosome.Turner's syndrome (X0).
Klinefelter's syndrome (XXY).
Prevalence 1 in 1000 male birth.Klinefelter syndrome syndrome results from an error during the division of the sex chromosomes in either the egg or the sperm. Such an event is said to occur sporadically and it is highly unlikely to affect further children. Having a son with XXY syndrome does not appear to be related to either the age of the mother or the father at the time of conception.Characteristics includeUndersized penis and testes.
If desired, the Klinefelter syndrome boy can increase male secondary sex characteristics such as body hair, reduced breast development, increased muscle development, w/testosterone treatment.
Diagnosis: There are several prenatal screening and diagnostic tests that can be done during pregnancy to determine if the baby is at risk of having, or definitely has Klinefelter syndrome. In addition, preimplantation genetic diagnosis (PGD) allows for testing for XXY syndrome on an embryo that has been created using assisted reproductive technology (ART) such as in vitro fertilisation (IVF). If the embryo does not have the condition, it is transferred to the uterus and allowed to develop normally.Treatment:There is no known cure for Klinefelter syndrome. There are, however, a number of treatments that are aimed at reducing the impact of the symptoms of the condition.In Klinefelter syndrome, the testes do not function normally so that the production of the male hormone called testosterone is reduced. This means that the bodily changes that occur at puberty are impacted. Treatment is with the administration of male hormones that promote the development of the secondary sexual characteristics. This treatment starts when the boy is around 11-12 years but does not restore function to the testes and infertility remains. The therapy continues until late adulthood.Disclaimer:The above information is general information (informational purpose only, sometimes may not be accurate). The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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