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患者男性,8岁,湖南籍.出生时外生殖器性别难辨,右手多指畸型.1岁后家长发现阴茎比同年龄儿童细小,位于阴茎背上的尿道口在排尿时呈喷泉状,于1985年5月16日收住入院.患儿足月顺产第一胎.父育龄28岁,母孕时24岁,非近亲结婚,家族中无同样疾患者. 体检:发育差,营养中等.男孩打扮,智力佳,嗅觉无缺失.身高115cm,上部量/下部量=1.26,指距113cm,体重18kg,血压13.33/9.33kPa.头颅五官无异常,颈无短粗,甲状腺不大,胸廓正常,乳房I·(Tanner分期).心肺肝脾无异常.右手轴前性第Ⅰ型畸型.外生殖器:阴茎长1.8cm,周径2 cm,于阴茎的腹侧可见到一条位于中线的系带,宽约0.5cm.包皮稍长.阴茎背部距龟头冠
Male, 8 years old, Hunan nationality genital sex discrimination at birth, the right hand multi-finger abnormalities .1 year old parents found penis than children of the same age is small, located in the back of the penis urethra was urinating when fountain-shaped in 1985 May 16, admitted to hospital on the first full-term birth of children with first child .Father and child-bearing age of 28 years old, 24-year-old mother, non-relatives marry, the same family of patients without the disease. Physical examination: poor development, nutrition medium. , Good intelligence, no loss of smell. Height 115cm, upper / lower amount = 1.26, finger pitch 113cm, weight 18kg, blood pressure 13.33 / 9.33kPa. No abnormalities of the cranial facial features, no stubby neck, thyroid is not large, I · (Tanner staging) .No abnormal heart and lung liver and spleen.External right anterior shaft type Ⅰ malformations genital: the penis length 1.8cm, 2cm in circumference, in the penis ventral line can be seen in the middle of a line, wide About 0.5cm. Foreskin slightly longer. Penis dorsal glans crown