Female pseudohermaphroditism with multiple caudal anomalies: absence of Y-specific DNA sequences as pathogenetic factors.
Female pseudohermaphroditism with multiple caudal anomalies: absence of Y-specific DNA sequences as pathogenetic factors.
复制标题
具有多个尾部异常的女性假两性畸形：缺乏 Y 特异性 DNA 序列作为致病因素。
DOI：
10.1002/ajmg.1320510105
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发表时间：
1994
期刊：
影响因子：
--
通讯作者：
Erickson,RP
中科院分区：
文献类型：
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作者：
Seaver,LH;Grimes,J;Erickson,RP
46，XX女性假两性之前被描述为外生殖器几乎完全男性化，没有明显的睾丸素来源。内生殖器、尿路和胃肠道的多发性畸形是相关的。我们已经评估了四个这样的婴儿，她们患有女性假两性畸形和多发性尾部畸形。3例有明显正常染色体(46，XX)，1例有46，XX，del(10)(q25.3→QTER)染色体构成。染色体断裂点位于PAX2区域，PAX2是一种在泌尿生殖系统组织中表达的发育重要的配对盒基因。利用聚合酶链式反应，我们筛选出多个Y特异序列的存在，包括SRY(性别决定区域，Y染色体)，这可以解释外生殖器的男性化。Y着丝粒序列、ZFY(锌指Y)和SRY均为阴性。此外，没有证据表明肾上腺或其他来源的睾丸素。我们认为，这些病例的男性化是正常情况下由睾酮调节的基因异常表达的结果。©1994 Wiley-Liss，Inc.
46,XX female pseudohermaphrodites have been previously described with nearly complete masculinization of the external genitalia and no apparent source of testosterone. Multiple malformations of internal genital, urinary, and gastrointestinal tracts are associated. We have evaluated four such infants with female pseudohermaphroditism and multiple caudal anomalies. Three cases had apparently normal chromosomes (46,XX); one had a 46,XX,del(10)(q25.3→qter) chromosome constitution. The chromosome breakpoint is in the region ofPAX2, a developmentally important paired box gene which is expressed in urogenital tissue. Using the polymerase chain reaction, we screened for the presence of multiple Y specific sequences, includingSRY(sex determining region, Y chromosome), that could explain masculinization of the external genitalia. All were negative for Y centromeric sequences,ZFY(Zinc finger Y), andSRY. Furthermore, there was no evidence for adrenal or other sources of testosterone. We suggest that the masculinization in these cases is the result of abnormal expression of genes which would normally be regulated by testosterone. © 1994 Wiley‐Liss, Inc.