turner syndrome
1
特纳综合征
a genetic condition affecting females, where one of the X chromosomes is partially or completely missing, leading to various developmental and medical challenges
Turner syndrome is a genetic condition that affects females and is typically characterized by the absence of all or part of one of the X chromosomes. It is associated with a range of physical features such as being short, having excess skin folds on the side of the neck, low hairline at the back of the neck, and a broad chest with widely spaced nipples. Individuals with Turner syndrome may also experience developmental delays, especially in movement abilities, as well as reproductive issues, such as infertility or early menopause. Additionally, they may have certain medical conditions, including heart problems, kidney problems, and thyroid disorders. Treatment for Turner syndrome may involve growth hormone therapy to increase height, estrogen replacement therapy to start puberty and support bone health, and medical treatments for specific health problems.
- Turner syndrome occurs in approximately 1 in 2,500 live female births.
特纳综合征大约每2,500名活产女婴中就有1名发生。
- Individuals with Turner syndrome typically have short stature and a lack of normal pubertal development.
患有特纳综合征的个体通常身材矮小,缺乏正常的青春期发育。
- Turner syndrome is caused by the absence of part or all of one of the X chromosomes.
特纳综合征是由其中一个X染色体部分或全部缺失引起的。
- Educational and psychosocial support is essential for individuals with Turner syndrome.
教育和心理社会支持对于患有特纳综合征的个体至关重要。
- Turner syndrome can be associated with various health issues, including heart and kidney abnormalities.
特纳综合征可能与各种健康问题有关,包括心脏和肾脏异常。