J Clin Endocrinol Metab. Epub Nov 1. Clinical review: Klinefelter syndrome--a clinical update. We review aspects of epidemiology, endocrinology, metabolism, body composition, and neuropsychology with reference to recent genetic discoveries. Relevant papers were obtained and reviewed, as well as other articles selected by the authors.
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Therefore, patients without treatment must be followed-up periodically. Nat Clin Pract Urol ;4: The rate of congenital malformations especially increases in Klinefelter syndrome patients with a high degree of chromosomal abnormalities.
Klinefelter Sendromu: klinefelter syndrome. Symptoms vary depending on the period of the age of the patients. Rates of chromosome abnormalities at different maternal ages. In patients with Klinefelter syndrome, it has been shown that there is a mild increase in serum estradiol levels. Especially, serum follicle stimulating hormone FSH level is observed to be higher than normal in varying degrees.
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.
The users may send this information to the website through forms if they would like to. In addition to such numerical chromosomal abnormalities, we can rarely see structural chromosomal aberrations as well. The Klinefelter syndrome kklinefelter testicular dysgenesis. The most typical feature is having small testes. Klinefelter zendromu and its variants: Clinical conferences at The Johns Hopkins Hospital: This therapy does not ensure spermatogenesis. Also preparations applied to the skin in a patch or gel form have been developed.
Usually, physical findings and developmental characteristics of children with classic Klinefelter syndrome are not different from normal children. Should non-mosaic Klinefelter syndrome men be labelled as infertile in? Serum testosterone level often rises up to the lower levels of normal range. If necessary, resection of breast tissue should be performed with cosmetic surgery.
Fibrosis of seminiferous tubules is seen in the histology of testes The so-called Klinefelter clinical syndrome was first defined in by Harry Klinefelter and his colleagues by showing the elevated excretion of urine FSH on 9 male patients who had small testes, gynecomastia and no ability of spermatogenesis 1. It has been shown that in these patients, some tissues have 47,XXX and some others have 46,XY chromosomes.
It is a permanent physical finding and does not change with treatment. In fact, estrogen levels can be normal in most patients. Oral preparations may rarely have toxic effects to liver thus it is not preferred very often. TOP Related Articles.
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