中间性
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中间性性象谱
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中间性的原因
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染色体因素
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女性:特纳氏综合征
(Turner Syndrome)
(也叫阿尔瑞契-特纳氏综合征,Ullrich-Turner
Syndrome;单体X性染色体, Monosomy
X)
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术语“综合征(syndrome)”是指具有相同病因的一系列病症的统称。在这种病例,综合征是以美国内科医生亨利•特纳(Henry Turner)的名字命名的,他于1930年代描述了该病的一些特征[在中国大陆医学界,该综合征被称为先天性卵巢发育不全症(congenital
ovary dysgenesis)、或性腺发育不全症(congenital
dysgenesis)、或XO-Turner综合征(The
XO Turner Syndrome),为了记忆方便,笔者此处按照首位描述该病的特纳先生的姓翻译成“特纳氏综合征”——译者注]。在每一个这样的病例中,不仅可能存在着各种各样的症状,而且这些症状源自相同的病因:只有单一的X染色体,而不是正常的两条X染色体(XX)。第二条X染色体丢失了(X0)。缺乏第二条X染色体的原因尚未可知,这似乎是一个随机发生的事件。罹患特纳氏综合征的女性可能具有下述插图例举的几个、许多或全部的生理特征:
罹患特纳氏征合征者的可能生理特征
Possible physical features related to Turner syndrome
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外表特征异常 身材矮小 蹼颈 宽胸 乳头相距远 可能有脊柱弯曲(脊柱侧凸)
肘外翻 短指 (婴儿期)手和足背水肿
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内部结构或功能异常 卵巢发育不全 不孕 闭经
可能出现的症状: 心血管症状(主动脉狭窄多见) 高血压 听力障碍 近视 智商低于常规水平 甲状腺功能障碍 肾脏功能障碍 糖尿病 骨质疏松
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Intersexuality - The Intersexual Spectrum
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Causes of Intersexuality - Chromosomes
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Females: Turner Syndrome (also called Ullrich-Turner Syndrome, Monosomy X)
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The term “syndrome” refers to a variety of symptoms that have the same cause. In this case, the syndrome is named after the American physician
Henry Turner who described some of its features in the 1930s.
Not all possible symptoms are present in each case, but they do have the same cause: Instead of the typical two X– chromosomes (XX), there is only a single X-chromosome. The second one is missing (X0). The reason for this is unknown. The absence of a second X-chromosome seems to be a random event. Females with Turner syndrome may have some, many or all the the physical features summarized in the following illustration:
Possible physical features related to Turner syndrome
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External short stature extra skin on the neck wide chest breast nipples far apart possible curvature of the spine (scoliosis)
arms that turn out slightly at the elbow short fingers puffy hands and feet
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Internal undeveloped ovaries infertility no menstruation
Possible problems: heart problems high blood pressure ear and hearing problems shortsightedness learning difficulties thyroid problems kidney problems diabetes osteoporosis
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