Pseudohermaphroditis, with testes and a 46, XX karyotype.
Pseudohermaphroditis, with testes and a 46, XX karyotype.
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假两性炎，有睾丸，核型为 46，XX。
DOI：
10.1016/s0022-3476(75)80068-0
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发表时间：
1975
期刊：
影响因子：
--
通讯作者：
V. Weldon
中科院分区：
文献类型：
--
作者：
S. Duck;G. Sekhon;R. Wilbois;A. Pagliara;V. Weldon
一个14岁4/12的白色女孩，进行性男性化和阴蒂肥大的评估，被发现有一个46，XX染色体核型，发育良好的苗勒氏结构，睾丸发育不良与Leydig细胞增生的不寻常的组合。尽管之前有46，XX例男性病例报告，但所有这些患者的苗勒管发育均受到抑制。当当代人类性分化障碍的分类进行了审查，没有类似的病人的报告被发现，我们推测，在我们的病人的基因型和表型对应的遗传间性的无角山羊，从而提高了可能性，人类常染色体可能在控制性发育中发挥作用。
A 14 4/12-year-old white girl, evaluated for progressive virilization and clitoromegaly, was found to have the unusual combination of a 46, XX karyotype, well-developed Müllerian structures, and dysgenetic testes with Leydig cell hyperplasia. Although there have been previous case reports of 46, XX males, in all of these patients development of the Müllerian ducts had been suppressed. When contemporary classifications of human disorders of sexual differentation were reviewed, no report of a similar patient was found. We speculate that the genotype and phenotype in our patient correspond to the genetic intersexuality of the hornless goat, thereby raising the possibility that the human autosome may play a role in the control of sexual development.