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Is there any treatment for mosaic klinefelter syndrome? Any possibility to father a child given that he doesn't have any symptoms?
19 ديسمبر 2015
رأي ثانوي

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د. Zakia Dimassi طب الأطفال
Klinefelter syndrome is a chromosomal problem that is characterized by hypogonadism, meaning that patients with Kleinfelter's syndrome have:- small testes- azoospermia: absence of motile (and hence viable) sperm in the semen- oligospermia: low sperm count. Additionally, these patients develop gynecomastia (breast tissue enlargement) in late puberty, and psychosocial problems. Since Klinefelter's syndrome results from a chromosomal aberration, the purpose of the available treatments is to reduce the malfunctions that result from the chromosomal defects. Treatment cannot however reverse these chromosomal defects or cure the disease.Androgen (male hormone) therapy is the most important aspect of treatment. Testosterone replacement should begin at puberty, around age 12 years, and the dose should increase until it is sufficient to maintain age-appropriate serum concentrations of sex hormones. Androgen therapy is used to correct androgen deficiency, to provide appropriate virilization (development of male physical characteristics such as the beard and male voice), and to improve psychosocial status. Regular testosterone injections can promote strength and facial hair growth; build a more muscular body type; increase sexual desire; enlarge the testes; improve mood, self-image, and behavior; and protect against the development of osteoporosis (fragile bones) at an early age.Regarding fertility, individuals with Klinefelter syndrome typically have microorchidism (small testes) and do not produce adequate levels of testosterone. Infertilty is typically due to severe spermatogenesis impairment responsible for azoospermia in  about 90% of men with Klinefelter syndrome (47,XXY) and  approximately 75% of men with mosaic Klinefelter syndrome. The availability of artificial reproductive technology (ART) helped overcome the fertility problems in males with Klinefelter's syndrome.
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