Laurance B M, Darby C W, Vanderschueren-Lodeweyckx M
Arch Dis Child. 1976 Feb;51(2):144-8. doi: 10.1136/adc.51.2.144.
Two prepubertal boys with bilateral cryptorchidism were identified as 46,XX after nuclear sexing studies in several tissues. Gonadal histology and chromosome studies suggested that true hermaphroditism or mosaicism were unlikely. Xg blood grouping was informative in one patient. Accepting paternity, this suggested either that both Xs were maternal, with loss, for example, of the male determining Y chromosome, or that the paternal X chromosome did not express, probably because of a deletion, the allele for the positive Xg blood group. The patients had normal thyroid stimulating hormone reserves but subnormal responses to human chorionic gonadotrophin stimulation, and may need hormonal replacement at puberty. Both had renal anomalies. We suggest that chromosome analysis is essential when cryptorchidism, hypospadias, or microgenitalia are found and that an intravenous pyelogram is desirable.
两名青春期前双侧隐睾男孩经多个组织的核型分析确定为46,XX。性腺组织学和染色体研究表明，真性两性畸形或嵌合体的可能性不大。Xg血型在一名患者中具有参考价值。若认定亲子关系，这表明两条X染色体均来自母亲，例如丢失了男性决定基因Y染色体，或者父源X染色体由于缺失而未表达Xg血型阳性等位基因。患者促甲状腺激素储备正常，但对人绒毛膜促性腺激素刺激反应低于正常水平，青春期可能需要激素替代治疗。两人均有肾脏异常。我们建议，当发现隐睾、尿道下裂或小生殖器时，染色体分析至关重要，静脉肾盂造影也很有必要。
