性反转是两性畸形的一种,临床上十分罕见。由于在遗传学和临床表型上存在异质性,容易与真假两性畸形混淆,给临床诊断和治疗带来困难。我院最近发现了一个46,XY女性性反转家系,现报告如下。先证者Ⅳ1:13岁,社会性别女性。2007年4月出现一次血尿,量很少,患者母亲误以为月经来潮, Sexual inversion is a genital abnormalities, clinically very rare. Due to the heterogeneity in genetics and clinical phenotype, it is easy to be confused with true and false genital malformations, which brings difficulties to clinical diagnosis and treatment. Our hospital recently found a 46, XY female sex reversal family, are as follows. Probate IV 1: 13 years old, gender female. In April 2007 there was a hematuria, a small amount, the patient’s mother mistakenly menstrual cramps,