Klinefelter综合征是一种遗传疾病，可导致生物雄性在其细胞中添加X染色体的额外副本。患有这种疾病的雄性可能没有任何症状，或者可能有多种症状，包括产生睾丸激素较少的正常睾丸。
睾丸激素是雄性激素，可刺激性特征，例如身体头发和肌肉生长。
A lack of testosterone can cause symptoms, such as:
- breast growth
- 一个较小的阴茎
- less facial and body hair than typical
It’s possible that males with this condition may have issues with fertility. Klinefelter syndrome can also delay speech and language development in male children.
The symptoms of Klinefelter syndrome can vary. While some people will have no discernible symptoms and have no idea they’re living with the syndrome, others may deal with a variety of symptoms.
症状in babies
When present, many of the symptoms of Klinefelter syndrome in young children and babies may go overlooked because they aren’t always obvious — especially because child development can be very individualized. However, you may want to talk with your child’s pediatrician if these症状在场并关心您：
- 学习爬行或步行的延迟开始
- a delayed start in talking
- 看似安静或更被动的态度
症状in young males and teens
Klinefelter综合症的症状通常是金属氧化物半导体t obvious in tween and teen males due to the onset of puberty. It’s important to follow your instincts if you, or they, are worried something is amiss. Some of the symptoms of the育种和青少年的Klinefelter综合征是：
- 温和的阅读障碍
- 引起注意的问题
- 能量水平降低
- difficulty socializing
- 延迟青春期，其中可能包括：
- a lack of facial or body hair
- a higher pitched voice
- 臀部和臀部周围有更多的脂肪沉积
- 乳房增大（gynecomastia）
- taller stature than the rest of the family (including long arms and legs)
- difficulty increasing or producing muscle tone
- smaller testicles
- smaller penis
症状in adults
The main symptom in adults is often fertility difficulties — although there are many treatments available for this symptom.
Adult males who only have an extra X chromosome in some of their cells will have milder symptoms. A smaller number of males have more than one extra X chromosome in their cells. The more X chromosomes they have, the more severe their symptoms may be.
症状of more severe Klinefelter types include:
- 学习和语音的主要问题
- poor coordination
- unique facial features
- bone problems
Klinefelter syndrome is
It’s possible that Klinefelter syndrome affects even more male children and adults than statistics suggest. Sometimes symptoms are so mild that they go unnoticed. Or symptoms can be misdiagnosed as being caused by other similar conditions.
每个人天生都有23对染色体或每个细胞内的46个染色体。其中包括两个性染色体X和Y。
- 出生的女性有两个X染色体，xx。这些染色体使它们具有性特征，例如乳房和子宫。
- People who are born male have one X and one Y chromosome, XY. These chromosomes give them traits such as a penis and testicles.
Klinefelter综合征患者天生有一个额外的X，导致其细胞具有XXY染色体。这在受孕期间随机发生。关于half the time额外的染色体从母亲的鸡蛋开始。另一半是父亲的精子。
Some people with the syndrome have more than one extra X chromosome. For example, their chromosome might look like this: XXXXY. Others have different chromosome abnormalities in each cell. For example, some cells might be XY, while others are XXY. This is called mosaicism.
Klinefelter syndrome is usually random and not caused by anything either parent did.
Females who have pregnancies after age 35 are slightly
Many people with Klinefelter syndrome won’t have to worry about complications. But in rare cases, people with this syndrome have an increased risk of:
- 骨头弱（osteoporosis）
- 心脏和血管疾病
- diabetes
- underactive thyroid gland (hypothyroidism）
- 自身免疫性疾病rheumatoid arthritis，，，，狼疮，，，，andSJö格伦综合征
- a rare tumor called an extragonadal germ cell tumor
- male breast cancer (although this is quite rare)
A small number of males with Klinefelter syndrome receive a diagnosis before birth when their mother has one of these tests:
- Amniocentesis.在amniocentesis，一名技术人员从婴儿周围的囊中清除了少量的羊水。然后在实验室中检查液体是否有染色体问题。
- 绒毛膜抽样。Cells from tiny finger-like projections called chorionic villi in the placenta are removed during a绒毛膜抽样。These cells are then tested for chromosome problems.
Because these tests can increase the risk for a miscarriage, they usually aren’t done unless the baby is at risk for a chromosome problem. Often, Klinefelter syndrome isn’t discovered until a child reaches puberty or later.
如果您的孩子看起来像他们正在缓慢发展，并且感觉令人担忧，与孩子的儿科医生交谈。他们可能会把你推荐给内分泌学家。该医生专门诊断和治疗激素状况。
在考试期间，您的医生会询问您或您的孩子遇到的任何症状或发展问题。用于诊断KlineFelter综合征的主要测试是：
- Chromosome analysis.也被称为核分型，，，，this blood test checks for abnormal chromosomes, such as an extra X chromosome.
轻度症状通常不需要治疗。通常鼓励患有更明显症状的雄性尽早开始治疗，最好在青春期开始治疗。尽早开始治疗可以防止某些症状。
主要治疗方法之一是睾丸激素替代疗法。Taking testosterone around the time of puberty will trigger the development of characteristics that normally happen at puberty for people who are born biologically male, such as:
- a deeper voice
- 脸部和身体上的头发生长
- increased muscle strength
- 阴茎生长
- 加强骨骼
You can take testosterone as a pill, patch, or cream. Or you can get it by injection every 2 to 3 weeks.
Other treatments for Klinefelter syndrome include:
- 言语和语言疗法
- 物理治疗以提高肌肉力量
- occupational therapy帮助您每天在学校，工作和社交生活中工作
- behavioral therapy to help gain social skills
- educational assistance
- counseling to deal with emotional issues likedepressionand low self-esteem that could stem from the condition
- 手术 （mastectomy）去除额外的乳腺组织
- fertility treatments
Most people with Klinefelter syndrome don’t produce much or any sperm. A lack of sperm can make it harder to biologically have a child, but it’s not impossible.
While having a biological child is not the only way to become a parent, fertility treatments can help some people who are interested in that method.
If you have a low sperm count, a procedure called intracytoplasmic sperm extraction with intracytoplasmic sperm injection (TESE-ICSI) removes sperm directly from your testicle and injects it into an egg to increase the chances of pregnancy.
Many people living with Klinefelter syndrome either don’t know they have it or aren’t adversely affected by it. However, in some cases, living with this syndrome can createstress。对于青春期期间的身体缺乏变化，孩子可能会感到尴尬。成年人可能会因为知道生亲生孩子的机会而感到沮丧。
A therapist or counselor can help you manage any depression, low self-esteem, or other emotional issues that stem from this condition.
您也可以寻找一个支持小组，您可以在其中与其他有这种情况的人交谈。您可以通过医生或在线找到支持小组。
Children with Klinefelter syndrome often need extra help in school. Contact your local school district to find out about special programs for kids with disabilities. You might be able to get an Individualized Education Program, which helps tailor a learning program to suit your child’s needs.
Many children with Klinefelter syndrome have more trouble interacting socially than their peers. An occupational or behavioral therapist can help them learn social skills.
Most people with Klinefelter syndrome live long, healthy lives. If you or your child requires treatment, the earlier it’s received, the better. This is because treating Klinefelter syndrome during puberty can lessen some of the symptoms.
Like many health conditions, some of the difficulties that arise with a Klinefelter syndrome diagnosis can be mental or emotional. Support from family members, therapists, and loved ones can be just as important as finding the right medical team.
