男性假两性畸形是指性腺为睾丸,但有苗勒管衍化的生殖管或外阴非男非女的患者。男性假两性体是两性体中病原和类型最复杂的一种,在此种类型中,完全性雄激素不敏感综合征又称睾丸女性化综合征是最常见的一种类型,临床常见的为散发病例,同一家系出现该种情况较为少见,我科从2004年2月至2009年3月发现同一小家系中三例为该种疾病,结合其家系调查,探讨其发病机制、临床表现、诊断及治疗。临床资料例1 先证者(Ⅲ_4,见图1),24岁,社会性别男,以“发现双腹股沟肿物”为主诉入院。体检:发音呈男性,未见喉结,无腋毛及胡须,双乳房呈女性,阴毛呈女性样分布,双腹股沟可触及 Male pseudohermaphroditism refers to the testis of the gonads, but there are mule tube derived genital duct or vulvar non-male and non-female patients. Male pseudo-bisexuals are one of the most complicated pathogens and types in bisexuals. In this type, complete androgen insensitivity syndrome is also known as testicular feminization syndrome and is the most common type in clinical practice Sporadic cases, the same family appear this kind of situation is relatively rare, our department from February 2004 to March 2009 found three cases of the same pedigrees for the disease, combined with their pedigree investigation to explore the pathogenesis, clinical manifestations, diagnosis And treatment. Clinical data Example 1 probands (Ⅲ_4, see Figure 1), 24 years old, male gender, “found double inguinal masses” as the main complaint. Physical examination: male pronoun, no Adam’s apple, no armpit hair and beard, double breasts were female, pubic hair was female-like distribution, double groin can reach