男性XX综合征是一种具有女性染色体组成(46,XX)而表型为男性的综合征。自1964年首例发现以来,已有多例报道。此综合征较少见,其发生率为男性新生儿的1/15,000～45,000。在所报道的病例中,其临床表现相似。成人患者的特征性表现为身高较同年龄平均值矮,男性第二性征尚明显,阴茎正常、睾丸小,1/3的患者有男子女性 Male XX syndrome is a syndrome that has a female chromosomal composition (46, XX) and a phenotypic male. Since the first discovery in 1964, there have been many reports. The syndrome is rare, the incidence of male neonates 1 / 15,000 to 45,000. In the reported cases, their clinical manifestations were similar. The characteristic features of adult patients are shorter than the average age of the same age, male secondary sexual characteristics are still obvious, the penis is normal, small testicles, 1/3 of patients with men and women