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中国首例基因突变早熟病例 3岁孩子竟有6岁身高--亲民维稳网络舆情监测室
2012-08-22
父母都盼着孩子长高点,再高点,可却有这么对父母因为孩子长个“神速”而苦恼不已。昨日记者从福建省福州儿童医院获悉,该院接诊一名因为长得太快而被送来就诊的儿童,他只有3岁但是身高116厘米,相当于6岁孩子的身高。
All parents wish their children grow point,To high,But there are so to my parents, because the child long“miracle”And was annoyed at。Yesterday reporters from fujian province, fuzhou, children's hospital learned,The hospital accepts a because of long too fast and brought the children to see a doctor,He is only 3 years old but height 116 centimeters,Equivalent to 6 years old the child's height。
经医院检查,这名孩子被确诊为“性早熟”,而且更令人诧异的是,他的性早熟不是因为饮食不当,而是“基因突变”,这十分特殊和罕见,在我国还属于首次发现的病例。目前,经过一年的用药控制,孩子的“性早熟”情况已经控制住了。
The hospital inspection,This young children were diagnosed with“Precocious puberty”,And more remarkably,His precocious puberty not because of improper diet,but“Gene mutation”,This very special and rare,In China is still belongs to the first discovery of the case。At present,After a year of drug control,The child's“Precocious puberty”Situation is now in hand。
8个月大就出现有明显性特征 Eight months appears have obvious feature
去年7月份,明明(化名)刚满3岁,但他的个头已经长到116cm,相当于6岁孩子那么高(3岁男宝宝身高标准96.8cm),这不仅让爷爷很高兴,也让周围邻居好生羡慕。
In July last year,clearly(alias)Just over 3 years old,But his head has grown to 116 cm,About 6 years old children so high(3 years old male baby height standard 96.8 cm),This not only let grandpa is very happy,Also let surrounding neighbors quite envy。
半年多,明明家人都因此沉浸在这个喜悦中。直到5个月前,明明的妈妈在帮明明洗澡时,喜悦变成了忧虑。
More than half a year,Clearly family so immersed in the joy。Until five months ago,Clearly mother in help clearly while taking a bath,Joy into a worry。
原来,洗澡时,明明妈妈发现明明外阴出现稀疏的阴毛,当她把这个情况告诉家人后,一家人很紧张,上网搜索咨询,得到了答案是——“性早熟”。
The original,When bathing,Clearly mother found clearly vulva appear sparse pubic hair,When she put this situation after told his family,Family very nervous,Internet search consulting,Got the answer is --“Precocious puberty”。
从那时开始,家人开始带着明明四处看病,被确诊为“性早熟”。不过,由于病因一直无法确定,治疗也没见大效果。
Since then,Family began with clearly see a doctor around,Are identified as“Precocious puberty”。but,The cause has been unable to determine,Treatment also didn't see big effect。
今年年初,明明父母听别人建议,将明明带到儿童医院就诊。接诊的是生长发育中心主任陈瑞敏,陈主任第一时间仔细地检查了明明的身体,发现其身高确实长得异常,且阴茎明显粗大,阴毛出现,睾丸增大。为了进一步确定病情,陈主任给明明做了“内分泌激发试验”,试验结果也显示他的中枢促性腺激素呈抑制状态,血清睾酮明显升高,才3岁多骨龄已经达到7岁。
Earlier this year,When parents listen to other people suggest,Will clearly to the children's hospital。It is ChenRuiMin, director of the center for growth and development,Director Chen first time carefully examined clearly body,Find the height do grow anomaly,And penis obvious bulky,Pubic hair appear,Testicular increase。In order to further determine the illness,Director Chen to clearly made“Endocrine excitation test”,Test results also showed his central gonadotropin is inhibitory state,Serum testosterone increased significantly,Is only 3 years old many bone age has reached 7 years old。
根据这些检查结果,陈主任初步诊断明明为外周性性早熟,即假性性早熟,而这样的病情至少已经存在有一两年了。
According to the test results,Director Chen preliminary diagnosis clearly for peripheral precocious puberty,Namely pseudo precocious puberty,This disease has at least there are one or two years。
这样的结果,让明明父母想不通,“平常吃东西也挺注意的,怎么可能”。随后,陈主任再三询问下,明明父母才回忆起来,其实在明明8个月的时候,就出现明显性特征,家人起先没有在意。
The result,Let clearly parents think impassability,“Usually eat also pretty attention,How can”。then,Director Chen repeatedly ask,When parents to recall,In fact in clearly 8 months when,Appear obvious feature,The family didn't care。
“当时问了好多人,他们也都觉得没关系,可能孩子比较早熟。”吴先生说,他们也就没再注意,直到5个月前,发现儿子的异常情况,才开始紧张。
“When asked many people,They also think it doesn't matter,Maybe the children is premature。”Mr. Wu said,They also did not pay attention to,Until five months ago,The son of found abnormal situation,Began to tense。
查出病因竟是罕见“基因突变 Find out the cause is rare“Gene mutation
为了确诊明明性早熟的病因,陈主任取了明明的血液送检基因测序,检测结果发现,明明带有一致病性的杂合突变LHCGR基因突变c.1703C>T,导致基因568位密码子编码由丙氨酸(Ala)变为缬氨酸(Val)。明明最终被确诊为家族性男性性早熟,即其父亲体内带有不显现的基因,受到环境影响等其他因素,这个基因遗传给明明,变成显现基因。
In order to diagnose clearly the etiology of precocious puberty,Director Chen took clearly blood cleared gene sequencing,Test results found,Clearly with a pathogenicity of hybrid mutation LHCGR gene mutation c. 1703 c>T,Cause genetic 568 codon coding by alanine(ala)Into valine(Val)。Clearly was eventually diagnosed with familial male precocious puberty,That is the father's body with not revealed in the gene,By the environmental impact and other factors,This gene to clearly,Into gene appeared。
陈主任介绍,由基因突变引起的外周性性早熟,常见的基因突变位点一般在398位,而引起明明性早熟的基因突变位点在568位,这样的“基因突变位点”引起的外周性性早熟不仅十分罕见,在国内也是属于首次发现的病例。
Director Chen is introduced,The gene mutation caused by peripheral precocious puberty,Common gene mutations is in commonly 398,And cause clearly precocious puberty gene mutations in 568,this“Gene mutations”Cause peripheral precocious puberty not only is very rare,In domestic is also belong to first discovery of the case。
提醒>> remind>>
孩子3-8岁每年增高超7-8cm要注意 The child 3 to 8 years increase superb every year 7-8 cm should pay attention to
陈主任介绍,家族性男性性早熟是外周性性早熟的一种罕见病因,由于基因突变导致受体持续激活,在没有中枢促性腺激素刺激的情况下,分泌性激素的细胞自律性地激活分泌性激素,男孩出现睾酮水平升高、第二性征发育、睾丸增大,精子生成,临床表现为体格快速生长、性发育和骨骼成熟度在最初0~4岁中进展快速。
Director Chen is introduced,Familial male precocious puberty is peripheral sexual precocity of a rare etiology,Resulting from a gene mutation receptor sustained activation,There is no central gonadotropin exciting cases,Sex hormone secretion of self-discipline to activate cells secrete hormones,The boy appeared testosterone levels、Secondary sex characteristics growth、Testicular increase,Sperm production and,The clinical manifestations of the physical fast growth、Sexual development and skeletal maturity in the first 0 ~ 4 years of rapid progress。
而由于骨龄增快超过身高年龄,若不及时治疗会导致成人矮身材。因此陈主任提醒,一般如果父母身高中等,儿童在3-8岁,身高每年会在7cm以内增长,如果增长的幅度超过7-8cm,家长就要特别注意,有可能是“性早熟”;另外,父母若发现男孩在9岁前出现性征应及时到小儿内分泌专科就诊,以免超过最佳治疗时间。(东南快报记者黄淑平)
And because bone age increasing faster than height age,If be treated not in time can lead to adult short stature。Therefore director Chen remind,Generally if the parents height medium,Children in 8 years 3 -,A year in height 7 cm growth within,If growth of more than 7-8 cm,Parents should pay special attention to,May be“Precocious puberty”;In addition,If parents found the boy in nine years ago appear sexuality should be timely to pediatric endocrine specialist clinic,In order to avoid more than the best treatment time。(Southeast express HuangShuPing reporters)
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