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真两性畸形

True hermaphroditism.

作者信息

Berkovitz G D, Rock J A, Urban M D, Migeon C J

出版信息

Johns Hopkins Med J. 1982 Dec;151(6):290-7.

PMID:7176290
Abstract

Eleven cases of true hermaphroditism (eight previously reported) studied at The Johns Hopkins Hospital are presented. The two most recently observed patients had what is to be considered an appropriate endocrine evaluation. This includes karyotyping, and measurement of 24-hour urinary 17-ketosteroids, gonadotropins, plasma testosterone, dihydrotestosterone, and all their precursors before and following a human chorionic gonadotropin stimulation test, and a sexual skin biopsy for androgen receptor binding and 5 alpha-reductase activity. The differential diagnosis of true hermaphroditism is discussed and an approach to gender assignment is presented.

摘要

本文介绍了在约翰霍普金斯医院研究的11例真两性畸形病例(其中8例此前已有报道)。最近观察的2例患者接受了被认为是适当的内分泌评估。这包括染色体核型分析、24小时尿17-酮类固醇、促性腺激素、血浆睾酮、双氢睾酮及其在人绒毛膜促性腺激素刺激试验前后所有前体的测定,以及用于雄激素受体结合和5α-还原酶活性的性皮肤活检。文中讨论了真两性畸形的鉴别诊断,并提出了性别分配的方法。

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引用本文的文献

1
True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology.真两性畸形:地理分布、临床发现、染色体及性腺组织学
Eur J Pediatr. 1994 Jan;153(1):2-10. doi: 10.1007/BF02000779.
2
The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism.Y染色体性别决定区(SRY)在46,XX真两性畸形病因学中的作用。
Hum Genet. 1992 Feb;88(4):411-6. doi: 10.1007/BF00215675.