A SYNDROME OF PSEUDOHERMAPHRODITISM, WILMS TUMOR, HYPERTENSION, AND DEGENERATIVE RENAL DISEASE
A SYNDROME OF PSEUDOHERMAPHRODITISM, WILMS TUMOR, HYPERTENSION, AND DEGENERATIVE RENAL DISEASE
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DOI：
10.1016/s0022-3476(70)80409-7
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发表时间：
1970-01-01
影响因子：
5.1
通讯作者：
BLIZZARD, RM
中科院分区：
文献类型：
--
作者：
DRASH, A;SHERMAN, F;BLIZZARD, RM
本报告涉及对最初因性别模糊而进行评估的两名无关儿童的观察。一只被当作雄性饲养，另一只被当作雌性饲养。第一个患者口腔涂片结果呈阴性，并且有单侧腹内睾丸。第二例口腔涂片、46,XY 外周血白细胞核型和双侧腹内睾丸均为阴性。他们的临床过程相似。高血压和蛋白尿在生命早期就被发现。每个孩子最终都因进行性肾衰竭而死亡。一名儿童在早期观察过程中发现了单侧肾母细胞瘤，而另一名儿童则是尸检时偶然发现的。肾功能恶化与肿瘤的存在无关。这一系列的发现以前只报道过一次，可能代表了子宫内细胞分化的改变，影响肾脏、性腺和其他内部和外部性结构。
This report concerns observations on two unrelated children originally evaluated because of sexual ambiguity. One was reared as a male, the other as a female. The first was buccal smear negative and had a unilateral intra-abdominal testis. The second had negative buccal smear, 46,XY peripheral leukocyte karyotype, and bilateral intra-abdominal testes. Their clinical courses were similar. Hypertension and proteinuria were detected early in life. Death resulted eventually from progressive renal failure in each child. A unilateral Wilms' tumor was discovered early in the course of observation of one child and as an incidental postmortem finding in the other. Deterioration in renal function was not related to the presence of the tumor. This constellation of findings, reported only once previously, probably represents an intrauterine alteration of cellular differentiation, affecting renal, gonadal, and other internal and external sexual structures.