KLINEFELTER SENDROMU PDF

KLINEFELTER SENDROMU PDF

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.

Author: Zulkigami Kagazilkree
Country: Guadeloupe
Language: English (Spanish)
Genre: Finance
Published (Last): 9 October 2012
Pages: 448
PDF File Size: 13.28 Mb
ePub File Size: 19.30 Mb
ISBN: 689-6-24746-294-3
Downloads: 2999
Price: Free* [*Free Regsitration Required]
Uploader: Gakus

Mosaic Klinefelter syndrome cases have variable and less severe phenotypic properties than the classic type. Delayed puberty is often seen in these patients. The most common malformation is clinodactyly. Please read our Terms of Use thoroughly.

File:Klinefelter’s Syndrome XXY – Wikimedia Commons

Especially in patients with low levels of testosterone, testosterone replacement should be performed. Testosterone replacement therapy eliminates all negative effects related to androgen deficiency but it has no effect on dendromu 6. Therefore, patients without treatment must be followed-up periodically. Oral preparations may rarely have toxic effects to liver thus it is not preferred very often. From now on it is going to be referred as “Turkiye Klinikleri”, shortly and it resides at Klinfelter cad.

Also, the length of the lower extremities seen klinffelter prepubertal period is more dominant and it is thought to be the result of a chromosomal aberration Should non-mosaic Klinefelter syndrome men be labelled as infertile in ? In adult patients gynecomastia does not regress with testosterone therapy.

Table 1 shows percentages of symptoms in adult patients.

Seldom in Klinefelter syndrome patients, who had spermatozoa in their ejaculate, pregnancies were reported with the help of human chorionic gonadotropin therapy. Ann Hum Genet ; Although klinfelter cases of spontaneous fertilization are published klinegelter the literature, spontaneous fertilization is not possible in patients with Klinefelter syndrome. In studies investigating the prevalence of autoimmune diseases, type 2 diabetes mellitus, and leg ulcers; the probability of having these diseases was higher in patients with Klinefelter syndrome 9,15, Intramuscular injections of testosterone enanthate or testosterone cypionate are the most commonly used testosterone replacement therapy agents.

  ISIDORE DUCASSE CANTOS MALDOROR PDF

One of the most typical laboratory findings in patients is an increase in serum gonadotropin levels in puberty.

Rogol AD, Tartaglia N. These links are provided for ease of reference only and do not hold qualification for support the respective web SITE or the admin or declaration or guarantee for the information inside.

These features are not usually clinically detectable at prepubertal period in patients with classic Klinefelter syndrome. The most noteworthy feature is the absence of testicular volume increase during adolescence. Depending on the seminiferous tubule fibrosis in patients with Klinefelter syndrome, testosterone level decreases over the years.

Nat Clin Pract Urol ;4: The cause sendrou this increase is thought to be as a result of an increased testosterone aromatization Dandona P, Rosenberg MT. Clin Endocrinol Oxf ;4: Klinefelter syndrome in adolescence: The ejaculate of patients with mosaic form is more likely to contain sperm. Yet the increase amount in the level of estrogen does not support the diagnosis.

Tureng – klinefelter sendromu – Turkish English Dictionary

Usually, physical findings and developmental characteristics of children with classic Klinefelter syndrome are not different from normal children. Within hereby “Terms of Use” unless explicitly permitted by “Turkiye Klinikleri” nobody can reproduce, process, distribute or produce or prepare any study from those under “Turkiye Klinikleri” copyright protection. Written, visual and audible materials of the website, including the code and the software are under protection by legal legislation.

Abramsky L, Chapple J. Especially in patients with azoospermia, Klinefelter syndrome should be investigated after reviewing other easily excludable causes.

The classic clinical features of patients with Klinefelter syndrome start to become recognizable during adolescence. A practical guide to male hypogonadism in the primary care setting. In patients with mosaic form, serum FSH level is seen to be slightly higher, while serum testosterone levels are usually normal.

  AQUALIS CALEO PDF

File:Klinefelter’s Syndrome XXY DNA.jpg

Another possibility is the existence of two X chromosomes that can increase the genetic risk of breast cancer However, as the majority of patients are azoospermic, fertilization is not possible spontaneously or with gonadotropin treatment.

This coincidence is very rare. In classic cases, serum testosterone levels gradually decrease in time.

IQ levels are usually normal in classic form but very low levels can also be seen in patients with high malformations 10,15, Cases of Klinefelter syndrome developed due to the errors in the stage of mitosis following the formation of the zygote are rare 7.

It is mostly depending on where klinefepter tissue with the extra X chromosome is. Testicular examination should be performed in patients with infertility and if there is sejdromu clinical suspicion, a genetic analysis aendromu be requested.

Unlike the classic presentation of long arms and long legs, the lower extremity is disproportionately longer, in comparison to koinefelter upper extremity. In fact, studies showed that congenital malformations such as clinodactyly, cleft palate and inguinal hernia were seen more frequently in infants with Klinefelter syndrome than healthy male children Clinical and diagnostic features of patients with suspected Klinefelter syndrome. Subscription and Public Relations Department Phone: Although the majority of patients have normal ejaculation function, sperm is rarely seen in the ejaculate.

In mosaic forms, clinical features vary widely. A natural person or a legal identity accessing to the ” SITE ” through online settings.