Turner Syndrome

中间性 - 中间性性象谱

中间性的原因 - 染色体因素

女性:特纳氏综合征 (Turner Syndrome)
(
也叫阿尔瑞契-纳氏综合征Ullrich-Turner Syndrome;单体X性染色体, Monosomy X)

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

 

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


 

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

Intersexuality - The Intersexual Spectrum

Causes of Intersexuality - Chromosomes

Females: Turner Syndrome (also called Ullrich-Turner Syndrome, Monosomy X)

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

 

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


 

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
 

[Course 3] [Description] [How to use it] [Introduction] [Problems in Females] [Problems in Males] [Intersexuality] [Introduction] [Intersexual Spectrum] [Dealing w. Intersex.] [Additional Reading] [Examination]