Van Dyke D C, Hanson J W, Moore J W, Patil S R, Hawtrey C E, Hansen J R
Department of Pediatrics, University of Iowa, Iowa City.
Clin Pediatr (Phila). 1991 Jan;30(1):15-21. doi: 10.1177/000992289103000103.
The recent availability of Y DNA probes has made it possible to identify two forms of 46,XX male syndrome: Y DNA positive and Y DNA negative. The Y DNA positive male results from a X;Y translocation with a low recurrence risk; the Y DNA negative males are due to a mutation with a high recurrence risk. 46,XX males and mosaic forms are phenotypically indistinguishable. A review of the case histories for 11 individuals indicates that affected males have highly variable genital and nongenital phenotypes. Physical findings may be clearly apparent or nonexistent. With the exception of external genitalia, the basis for this variability is unknown. It may be related to differences in Y chromatin expression as the result of variable inactivation of the X chromosomes, or to the existence of minor deletions or point mutations secondary to an exchange of genetic material. Common and uncommon clinical problems in these individuals require evaluation and follow-up care that is provided through a cooperative, interdisciplinary approach.
近期Y染色体DNA探针的出现使得识别两种形式的46,XX男性综合征成为可能：Y染色体DNA阳性和Y染色体DNA阴性。Y染色体DNA阳性男性是由X;Y易位导致的，复发风险较低；Y染色体DNA阴性男性则是由突变引起的，复发风险较高。46,XX男性及其嵌合型在表型上无法区分。对11例个体的病历回顾表明，受影响的男性具有高度可变的生殖器和非生殖器表型。体格检查结果可能明显存在或不存在。除了外生殖器，这种变异性的原因尚不清楚。这可能与X染色体可变失活导致的Y染色质表达差异有关，或者与基因物质交换继发的小缺失或点突变的存在有关。这些个体常见和不常见的临床问题需要通过合作的跨学科方法进行评估和后续护理。
