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罕见错位!同患先天性性早熟 姐弟竟成“兄弟”

2016-08-17 13:23:54   广西新闻网

核心提示

每个月中旬,在广西妇幼保健院都能见到一位男子带着女儿和儿子来取药。男子叫李安生(化名),南宁市隆安县人,女儿7岁,儿子3岁。儿女双全,对大多数人来说是件幸福的事,他却有苦难言,因为姐弟俩出生后都被查出患有“先天性肾上腺皮质增生症”的遗传病,需终身服药治疗。

震惊

女儿竟然

长着“男儿身”

李安生的大女儿叫莎莎(化名),孩子出生后不久,李安生便慢慢发现她跟其他孩子不一样:生殖器表现出阴蒂肥大,阴唇分化不良的症状,看上去如同一个男性生殖器。明明生的是女儿,怎么生殖器官长得像男性一样?李安生还发现,除了生殖器出现异常之外,莎莎还经常出现呕吐、腹泻与抽搐,以及时常莫名其妙地情绪失控,一哭就是好几个小时。

莎莎2岁的时候,被医院诊断为假两性畸形,也就是她体内的生殖腺是卵巢,但外阴部酷似男性生殖器。这个结果,李安生一时无法接受。后来,医生为莎莎做了矫正手术,术后,莎莎的情况却并未出现好转,呕吐与腹泻依旧是家常便饭。

李安生直到现在还对莎莎3岁时的那个大年初四记忆犹新。那天,莎莎嘴唇发黑,脱水严重,村里的私人诊所和县人民医院均束手无策,最后,李安生抱着莎莎辗转两个小时来到了广西妇幼保健院。“我们当时正在医院急诊科排队,正好一名护士走过来看了看孩子,对我说孩子快不行了,别排队了,快去抢救吧!于是我们赶紧把莎莎送进了重症监护室。孩子最后被抢救了过来,医生说如果再晚几个小时,很可能就保不住了”。

经诊断,莎莎患有先天性肾上腺皮质增生症。后来,医院对莎莎的父母进行检查后发现,两人都是该疾病的基因携带者,他们的每一次生育,孩子都会有25%的概率会患上该疾病。

再现

儿子得了

跟姐姐一样的病

3年前,李安生的妻子再度怀孕,产下一名男婴,一家人十分高兴,“我们当时还是抱着侥幸心理,希望这个孩子是健康的”,可是不久之后,孩子的情况发生了变化。

儿子明明(化名)出生后,也没能逃脱病魔的纠缠。明明一生下来生殖器就比同龄孩子大一倍,如男性青春期一般,是很明显性器官早熟,同时伴有呕吐与腹泻的症状。

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