Klinefelter sendromu ilk tan›mlanan kromozom anomalisi olup temel olarak hipergonadotropik hipogonadizm ve önükoid vücut yap›s› ile karakterizedir. S›kl› ¤›. ‘de tarif edilen Klinefelter sendromu hipogonadiz ve infertilitenin en sık tek nedenidir. Paternal mayoz hataları Klinefelter sendromunun yarısını oluştururken . Key words: Antisocial personality disorder, Klinefelter’s syndrome. ÖZET. Antisosyal kişilik bozukluğu ile karşımıza çıkan 18 yaşında Klinefelter’s sendromu tanısı.
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In almost all patients with Klinefelter syndrome, an elevation of serum FSH is seen in lab findings 6,9, Besides cryptorchidism, more pronounced retardation in sexual characteristics, an increase possibility of hypoplastic scrotum, symptoms of mental retardation begin to emerge in these patients The information consists of your IP address, browser type, operating system, domain name, access time, and related websites.
Klinefelter syndrome in clinical practice.
Mosaicism, different from 47XXY chromosome arrangement, probably occurs ilinefelter a result of a division in the mitotic phase after the conception. Klinefelter’s syndrome, that is described inis the most common single cause of hypogonadism and infertility.
Paternal meiosis errors account for about one half of Klinefelter syndrome while remainder are mostly due to maternal meiosis errors. Prenatally, Klinefelter syndrome can be detected by the karyotype evaluation of the pleural fluid in amniocentesis. Infants, whose fathers have Klinefelter syndrome, mostly have normal karyotype. In addition to such numerical chromosomal abnormalities, we can rarely see structural chromosomal aberrations as well.
Address Turkocagi Caddesi No: The rate of congenital malformations especially increases in Klinefelter syndrome patients with a high degree of chromosomal abnormalities.
InJacobs and Strong stated that Klinefelter syndrome was a chromosomal disease and they were able to identify a 47,XXY chromosome structure created by an extra X chromosome causing this clinical picture 3.
These patients usually have problems in psychological adjustment. In patients with mosaic form, serum FSH level is seen to be slightly higher, while serum testosterone levels are usually normal. Symptoms vary depending on the period of the age of the patients.
File:Klinefelter’s Syndrome XXY – Wikimedia Commons
Another common laboratory finding in almost all of the patients with Klinefelter syndrome is serious reduction in the number of sperm. If necessary, resection of breast tissue should be performed with cosmetic surgery.
Normal levels can be seen in patients with mosaic form, while much lower ssendromu is seen in patients with high-chromosomal defects. Pediatr Endocrinol Rev ;8: In patients with normal levels of testosterone, no replacement therapy is necessary.
It is a permanent physical finding and does not change with treatment. A link enabling to access to another website through the ” SITE “, the files, the context or through another website to the ” SITE “, the files and the context. However, studies have found that these infants have higher rates of chromosomal hyperploidy IQ levels are usually normal in classic form but very low levels can also be seen in patients with high malformations 10,15, However, it sendrpmu be kept in mind that this analysis can rarely be found normal.
It should be noted that patients without the typical features might have Klinefelter syndrome as well. More rarely occur genitourinary malformations, such as hypospadias and undescended testes 10, Hypogonadism was found to be the most important cause of bone mineral deficiency.
Orphanet J Rare Dis ;1: Clin Endocrinol Oxf ;4: Extra X chromosome usually occurs during gametogenesis when ovum or sperm carries an extra X chromosome along with the normal sex chromosome. In patients with Klinefelter syndrome, serum testosterone levels usually begin to rise with puberty. In adult males with complaint of sendrkmu, the possibility of Klinefelter syndrome must be considered as a fact.
Delayed puberty is often seen in these patients. Klinefelter syndrome in adolescence: The clinical manifestations of the Klinefelter syndrome may be due to hypogonadism caused by the disease, or directly due to chromosomal abnormalities. It is mostly depending on where the tissue with the extra X chromosome is.