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娄×,5岁,因外生殖器畸形来院就诊。患儿出生时外生殖器酷似男孩,但解小便时需作下蹲位,2岁时身材超过同龄儿童,并有声嘶、皮肤逐渐变黑。4岁时外阴部有少数阴毛,曾在外院查染色体为46xx。父母非近亲婚配,家族中无类似现象。体检:身高122cm,体重31kg,全身皮肤黑色素沉着,面部尤著,齿龈及颊粘膜亦有色素沉着。心、肺、肝、脾、肾均无异常发现,血压140/110。上唇长须,阴毛少数,阴蒂明显增大(长6cm,直径1.5cm),阴蒂头部外露,左右两侧大阴唇增大似阴囊,
Lou ×, 5 years old, due to external genital malformations to the hospital. The genitals at birth are similar to boys, but they need to be squatted when they are urinating. When they are 2 years old, their stature is more than their peers, with hoarseness and darker skin. 4 years old when the genitals have a few pubic hair, had outside the hospital to check the chromosome 46xx. Parents non-relatives marriage, no similar phenomenon in the family. Physical examination: height 122cm, weight 31kg, body skin melanoma, especially facial, gums and buccal mucosa also pigmentation. Heart, lung, liver, spleen, kidney were no abnormalities found, blood pressure 140/110. Upper lip long must, pubic hair minority, clitoris was significantly increased (length 6cm, diameter 1.5cm), clitoral head exposed left and right labia majora increases scrotum,