Wiener J S, Teague J L, Roth D R, Gonzales E T, Lamb D J
Scott Department of Urology, Baylor College of Medicine, Houston, Texas, USA.
J Urol. 1997 Apr;157(4):1377-86.
The rapidly growing field of molecular biology has caused exponential growth in our knowledge of the processes of embryogenesis. Since the cloning of the androgen receptor gene in 1988, investigators have been able to clarify many of the molecular events of male sexual differentiation that are mediated through the androgen receptor. We reviewed the current state of knowledge of the androgen receptor and its role in male genital development.
An intensive literature search was conducted to review reports on the androgen receptor and sexual differentiation since 1988. This review also includes ongoing research from our laboratory on the role of the androgen receptor in human genital development, as well as collaboration with other investigators.
We reviewed the basic molecular biology of androgenic action mediated through the androgen receptor. This information has been integrated into the current understanding of human male sexual differentiation to clarify how androgens virilize the undifferentiated embryo. Defects in function of the androgen receptor may be manifested as a spectrum of phenotypes of the androgen insensitivity syndrome, and these phenotypes of male pseudohermaphroditism have been reviewed on a clinical and molecular basis. New molecular techniques have augmented the evaluation and diagnosis of the androgen insensitivity syndrome, and some groups have successfully diagnosed the condition prenatally.
Basic scientific research of androgen receptor function and its role in male sexual development has provided a clearer understanding of the mechanisms responsible for the spectrum of defects secondary to the androgen insensitivity syndrome. This knowledge will enable clinicians to offer more accurate diagnosis and insightful counseling to affected patients and their families.
分子生物学领域的迅速发展使我们对胚胎发生过程的认识呈指数级增长。自1988年雄激素受体基因克隆以来，研究人员已能够阐明许多通过雄激素受体介导的男性性分化的分子事件。我们综述了雄激素受体的当前知识状态及其在男性生殖器发育中的作用。
进行了深入的文献检索，以回顾自1988年以来关于雄激素受体和性分化的报告。本综述还包括我们实验室正在进行的关于雄激素受体在人类生殖器发育中作用的研究，以及与其他研究人员的合作。
我们综述了通过雄激素受体介导的雄激素作用的基本分子生物学。这些信息已融入当前对人类男性性分化的理解中，以阐明雄激素如何使未分化的胚胎男性化。雄激素受体功能缺陷可能表现为一系列雄激素不敏感综合征的表型，并且已在临床和分子基础上对这些男性假两性畸形的表型进行了综述。新的分子技术增强了雄激素不敏感综合征的评估和诊断，一些团队已成功在产前诊断出该病。
对雄激素受体功能及其在男性性发育中作用的基础科学研究，使人们对雄激素不敏感综合征继发的一系列缺陷的发病机制有了更清晰的认识。这些知识将使临床医生能够为受影响的患者及其家庭提供更准确的诊断和有见地的咨询。
