Roe T F, Alfi O S
Pediatrics. 1977 Jul;60(1):55-9.
Two infants with ambiguous genitalia were recognized to have the XX male syndrome. Although most XX males have normal penile development, a review of the reported cases showed that eight of the 14 affected children, diagnosed before age 15 years, had penile abnormalities, most commonly hypospadias and/or chordee. This syndrome should be considered in children with incomplete genital differentiation. The available indirect evidence suggests that deficient testosterone production by the fetal testes accounts for the genital ambiguity. Although no explanation has been established for the presence of testes in the apparent absence of the Y chromosome, studies of the X-linked Xg blood group in XX males demonstrate a high frequency of unusual inheritance patterns. This implies that the abnormality in the transmission of maleness in affected families may also be X-related rather than autosomal.
两名生殖器模糊的婴儿被诊断患有XX男性综合征。虽然大多数XX男性阴茎发育正常，但对已报道病例的回顾显示，在14名15岁前确诊的患病儿童中，有8名存在阴茎异常，最常见的是尿道下裂和/或阴茎下弯。对于生殖器分化不完全的儿童应考虑这种综合征。现有的间接证据表明，胎儿睾丸产生的睾酮不足是导致生殖器模糊的原因。虽然在明显没有Y染色体的情况下睾丸存在的原因尚未明确，但对XX男性X连锁Xg血型的研究表明，异常遗传模式的频率很高。这意味着受影响家庭中男性特征传递的异常可能也与X染色体有关，而非常染色体有关。
