Androgen resistance is relatively common and if it is also a common cause of male infertility, androgen resistance may prove to be more frequent than all other forms of primary hormone resistance combined. There are several possible reasons for this frequency. First of all, androgen action is required for reproduction but not for the life of the individual; as a consequence, those with even the most complete forms of resistance to androgen action have a normal life span. In contrast, severe mutations in the action of hormones essential for life (such as cortisol) probably result in fetal wastage. Secondly, since androgen action is required for the development of a normal male phenotype, defects in androgen action result either in abnormal sexual development or reproductive failure; as a consequence, there is a high probability that even the most subtle defects in the cellular machinery for androgen action eventually come to the attention of physicians. Thirdly, since the gene that specifies the androgen receptor is X-linked, defects in the androgen receptor become clinically manifest in the hemizygous (XY) state. If the gene were autosomal, most mutations would probably have become manifest only in the homozygous state. As a consequence, there is a greater chance for a new mutation in the androgen receptor to be clinically manifest and to be passed from generation to generation through asymptomatic heterozygous females.
|Original language||English (US)|
|Number of pages||12|
|Journal||New England Journal of Medicine|
|Publication status||Published - 1980|
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