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男性假两性畸形超声表现1例

2018-11-05 胡小丽 陈霞 临床超声医学杂志

患儿女,36d,因家长发现“生殖器包块”就诊。患儿为足月顺产,父母非近亲婚配,孕期无特殊服药史和病史。体格检查:患儿外生殖器外观为女性,可见大小阴唇,大阴唇丰满,双侧大阴唇深面扪及结节感。

患儿女,36d,因家长发现“生殖器包块”就诊。患儿为足月顺产,父母非近亲婚配,孕期无特殊服药史和病史。体格检查:患儿外生殖器外观为女性,可见大小阴唇,大阴唇丰满,双侧大阴唇深面扪及结节感。
 
下腹部MRI提示:①双侧腹股沟异常信号:隐睾?前列腺、精囊腺未明确显示;②女性外阴改变:骶前软组织信号影,子宫待排。
 
超声检查:双侧大阴唇深面探及睾丸和附睾声像,左侧睾丸大小11.5mm×6.8mm×5.8mm,附睾头大小5.9mm×4.3mm;右侧睾丸大小11.9mm×7.1mm×6.9mm,附睾头大小7.1mm×4.8mm;双侧睾丸回声均匀,睾丸间未见明显阴茎海绵体回声(图1,2)。膀胱充盈可,高低频超声联合扫查盆腔未探及明显子宫和卵巢声像;双侧肾脏及肾上腺区超声未见异常。

图1 右侧大阴唇深面显示右侧睾丸和附睾
 
图2 左侧大阴唇深面显示左侧睾丸的附睾
 
超声提示:男性假两性畸形;染色体核型:46,XY[20]。
 
讨论:
 
两性畸形是在胚胎发育期间分化异常所致的性别畸形,外生殖器既有男性特征又有女性特征。一般根据染色体、染色质、性腺及外生殖器的不一致,可分为真两性畸形、男性假两性畸形及女性假两性畸形,其中,男性假两性畸形病因和类型最为复杂,其性腺为睾丸,但有苗勒管衍化的生殖器官(子宫和输卵管)或外阴非男非女,发育有不同程度的女性内、外生殖器官;性染色体为XY,性染色质为阴性。
 
两性畸形一般依据临床症状、实验室检查、染色体检查及性腺活检确诊,超声可为临床可提供内生殖器信息,即有无睾丸、附睾、前列腺、精囊腺、卵巢、子宫及卵睾声像。超声检查发现个体双侧性腺不一致或双侧卵睾可提示真两性畸形;男性假两性畸形超声可测及两侧睾丸,未探及卵巢;女性假两性畸形超声则可探及双侧卵巢,未测及睾丸,同时应观察双侧肾上腺有无肿大。
 
本例患儿超声检查考虑男性假两性畸形,后经染色体检查证实。当临床提示生殖器异常时,超声医师应仔细扫查盆腔、膀胱至髂血管周围、外内环口、腹股沟及外阴,准确判断性腺类别,超声在两性畸形的诊断中能直观判断有无性腺及其部位、数目、大小、毗邻关系,可作为两性畸形诊断及鉴别诊断的首选方法。

原始出处:

胡小丽,陈霞.男性假两性畸形超声表现1例[J].临床超声医学杂志,2018(04):273.

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    2018-11-05 天地飞扬

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