完全型雄激素不敏感综合征并精原细胞瘤1例

2019-11-08 张秉宜 平杰 张玲 中国临床医学影像杂志

社会性别女,38岁,因“发现双侧腹股沟区可复性包块3月,伴左侧腹股沟区包块不可回纳1周”入院。查体:身高165 cm,体质量55kg,女性第二性征发育良好,无腋毛阴毛,外生殖器同正常女性,有阴道及大小阴唇。双侧腹股沟区分别可触及3 cm×2 cm,4 cm×2 cm肿块,右侧肿块按压可还纳腹腔,左侧肿块不可还纳。盆腔彩超:可见3 cm长阴道回声,未探及子宫及双附件回声(图1)。

社会性别女,38岁,因“发现双侧腹股沟区可复性包块3月,伴左侧腹股沟区包块不可回纳1周”入院。查体:身高165 cm,体质量55kg,女性第二性征发育良好,无腋毛阴毛,外生殖器同正常女性,有阴道及大小阴唇。双侧腹股沟区分别可触及3 cm×2 cm,4 cm×2 cm肿块,右侧肿块按压可还纳腹腔,左侧肿块不可还纳。盆腔彩超:可见3 cm长阴道回声,未探及子宫及双附件回声(图1)。


图1阴道呈盲端,未探及子宫及双侧附件。
 
右侧腹股沟区可探及睾丸回声,大小3.1 cm×1.9 cm×1.2 cm,左侧腹股沟区可探及睾丸回声,大小3.8 cm×2.6 cm×2.1 cm。左侧睾丸回声不均匀,内见一形态欠规整低回声区,范围2.5 cm×1.8 cm×1.6 cm,占据大部分正常睾丸,CDFI低回声区内血流信号稍增多,PSV17 cm/s,RI0.60(图2,3)。彩超诊断:符合双侧隐睾声像(左侧隐睾并精原细胞瘤可能)。


图2 右侧腹股沟区正常隐睾超声声像图。图3 左侧腹股沟区隐睾并精原细胞瘤超声声像图。
 
实验室检查:促黄体生成素(LH)49.6U/L↑,促卵泡生成素(FSH)98.4U/L↑,催乳素(PRL)0.76nmol/L↑,睾酮(T)1.78nmol/L↑。细胞遗传学检查:患者染色体核型为正常男性型(46,XY)。患者行双侧腹股沟肿物切除术,术中冰冻切片示左侧睾丸精原细胞瘤,遂行双侧睾丸切除术并双侧腹股沟淋巴结清扫术,术后行常规放疗。临床诊断:完全型雄激素不敏感综合征并精原细胞瘤。
 
讨论
 
雄激素不敏感综合征又称为睾丸女性化综合征,是常见的男性假两性畸形,为一种X连锁隐性遗传病。分完全型和非完全型,本例根据患者体征考虑为完全型,该例患者染色体核型为(46,XY),性腺是睾丸。第二性征发育是通过睾丸合成并分泌雄性激素,因雄性激素受体基因缺陷导致受体结构及功能异常,不能介导雄性激素对靶细胞作用,X染色体上的决定雄激素受体的TFM基因(Xp11-q13)发生突变,决定了受体对雄性激素不敏感,胚胎生殖结节不能分化为男性生殖器,患者体征呈女性表型。临床表现为具有女性外生殖器,阴道呈盲管状,大部分患者无子宫及双侧附件组织,仅少部分存留遗迹。
 
睾丸位于大阴唇、腹股沟管或腹腔内。青春期前睾丸组织尚可保持正常,青春期后异位睾丸易发生生殖细胞肿瘤倾向(无性细胞瘤、精原细胞瘤及性母细胞瘤),但Kocak等提议,完全型患者的睾丸恶变极少在青春期前发生,睾丸切除可在女性第二性征发育以后进行,以保证内源性激素能平稳渡过青春期,确保乳房发育、身体长高以及女性化。本例患者左侧睾丸恶变,为精原细胞瘤,行常规双侧睾丸切除术加双侧腹股沟淋巴结清扫术,术后腹股沟区行放疗以及小剂量雌性激素替代治疗。
 
原始出处:

张秉宜,平杰,张玲,杜志勇,高扬.完全型雄激素不敏感综合征并精原细胞瘤1例[J].中国临床医学影像杂志,2018,29(06):456.

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