Hiort O, Holterhus P M, Nitsche E M
Department of Paediatrics, Medical University of Lübeck, Germany.
Baillieres Clin Endocrinol Metab. 1998 Apr;12(1):115-32. doi: 10.1016/s0950-351x(98)80495-3.
Knowledge of the physiology of male sexual differentiation and the clinical presentation of androgen insensitivity syndromes (AIS) has led to an increasing understanding of the mechanisms of androgen action. Androgens induce their specific response via the androgen receptor (AR), which in turn regulates the transcription of androgen-responsive target genes. The androgen-dependent development of male genital structures and the induction of the normal male phenotype depends on the presence of an intact AR. Structural alterations leading to malfunction of the AR are associated with variable inhibition of virilization despite normal or even supranormal serum levels of androgens. The mapping, cloning and sequencing of the AR gene have facilitated new insights into the study of androgen action. Functional investigation of the normal and the mutant AR in vivo as well as in vitro has led to the characterization of the distinct molecular steps involved in the normal androgen action pathways that are inhibited in the androgen insensitivity syndrome.
对男性性分化生理学以及雄激素不敏感综合征（AIS）临床表现的了解，使人们对雄激素作用机制有了越来越深入的认识。雄激素通过雄激素受体（AR）诱导其特异性反应，而雄激素受体又反过来调节雄激素反应性靶基因的转录。男性生殖器官结构的雄激素依赖性发育以及正常男性表型的诱导取决于完整AR的存在。尽管血清雄激素水平正常甚至超常，但导致AR功能异常的结构改变与男性化的可变抑制有关。AR基因的定位、克隆和测序有助于对雄激素作用的研究有新的认识。对正常和突变AR在体内以及体外的功能研究，已明确了雄激素不敏感综合征中被抑制的正常雄激素作用途径所涉及的不同分子步骤。
