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[女性假两性畸形。卵巢混合性生殖细胞肿瘤。病例报告]

[Female pseudohermaphroditism. Mixed germ cell tumor of the ovary. A case report].

作者信息

Reyes Rivera M L, Wong Sánchez E, Casas Santisrebe A L, de Leon R A, Castillo Menchaca F

出版信息

Ginecol Obstet Mex. 1998 Jan;66:24-8.

PMID:9528218
Abstract

It is known as Pseudohermaphroditism or intersexual state, those entities in which external genitalia are ambiguous or are not according with gonadal o genetic chromosomic sex. They can have diverse etiology. Continual exposition to estrogens or androgens may induce female or male dysmorphism, and also development of benign or malignant tumors at target organs. We present a case of a young woman, 15 years old, with virilization, who attend medical consultation for progressive abdominal growing. The presence of ambiguous, genitalia since birth, was not a previous reason of concern. Diagnostic, findings, management and follow up for about 4 months are described and also a topic review. Genitalia develop during first trimester of intrauterine life, under influence of sexual steroids, and changes of sexual development can emerge as consequence of endocrine or morphologic disorders and the later ones, related to karyotypic abnormalities. Sexual steroid and their metabolites can demonstrate individually, different biological effects, suggesting the presence of individual receptors. The presence of cooperative effects between each steroid produce even more complexity to the evaluation of each steroid. Various mutations principally at gene receptors of sexual steroids, cause resistance to them. At female pseudohermaphroditism in difference from male P. there is no errancy at genetic gonadal transmission. These women are intrauterine exposed to excessive quantities of androgens, and they have normal internal genitalia but external ambiguous genitalia. The involved androgen comes from external factors, a it occurs at mother who receives progesterone to avoid abortion, but it is due frequently to androgen storage, caused by enzymatic blockade at steroidogenesis (adrenogenital syndrome).

摘要

它被称为假两性畸形或两性畸形状态,即那些外生殖器模糊不清或与性腺或遗传染色体性别不符的情况。它们可能有多种病因。持续接触雌激素或雄激素可能会导致女性或男性畸形,还会引发靶器官的良性或恶性肿瘤。我们报告一例15岁患有男性化的年轻女性病例,她因腹部逐渐增大前来就医。自出生以来就存在外生殖器模糊的情况,此前并未引起关注。本文描述了约4个月的诊断、检查结果、治疗及随访情况,并进行了专题综述。外生殖器在子宫内生活的头三个月,在性类固醇的影响下发育,性发育的变化可能是内分泌或形态学紊乱的结果,而后者与核型异常有关。性类固醇及其代谢产物可分别表现出不同的生物学效应,提示存在个体受体。每种类固醇之间的协同作用使得对每种类固醇的评估更加复杂。各种突变主要发生在性类固醇的基因受体上,导致对它们产生抗性。与男性假两性畸形不同,女性假两性畸形在遗传性腺传递方面没有差错。这些女性在子宫内接触了过量的雄激素,她们的内生殖器正常,但外生殖器模糊。涉及的雄激素来自外部因素,比如母亲为避免流产而接受孕酮,但这通常是由于类固醇生成过程中的酶阻断导致雄激素蓄积(肾上腺生殖器综合征)。

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