Turner Syndrome during a Life Span

来源 :2011年第一届内分泌与代谢大会 | 被引量 : 0次 | 上传用户:liner1018
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  Turner syndrome (TS) is a chromosomal aberration where one of the two sex chromosomes is totally, or partially (mosaicism), lacking (45,X instead of 46, XX) and affects 1/2500 live female births.TS is either detected at birth or during growth due to short stature and lack of puberty or due to infertility.Autoimmune hypothyroidism is prevalent in 50%, elevated liver enzymes in 50%, hearing impairment in 35%, fractures in 50% > age 45, congenital heart disease such as coarctatio aortae and bicuspid aortic valve in 20%, hypertension in 20% and aortic dissection type B is a frequent cause of death at young age.Pregnancy, mainly with oocyte donation, is possible but needs a thorough cardiac evaluation before induction.Self reported quality of life does not differ from the population except for more reported social isolation in TS women in spite of hormonal substitution.
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