| | ANDROGEN RECEPTOR DISORDERS |
 | | It is generally accepted that defects in the androgen receptor gene can prevent the normal development of both internal and external male structures in 46, XY individuals and information on the molecular structure of the human androgen receptor gene has facilitated the study of molecular defects associated with androgen insensitivity. |
 | | The main phenotypic characteristics of individuals with the complete androgen insensitivity syndrome (CAIS) are: female external genitalia, a short, blind ending vagina, absence of wolffian duct derived structures like epididymides, vasa deferentia and seminal vesicles, the absence of a prostate, the absence of pubic and axillary hair and the development of gynecomastia (87, 88). |
 | | The shortened glutamine stretch as such, is not the cause for the androgen resistance but seems to increase the thermolability of the androgen receptor in combination with a point mutation in exon 5 (Y763C) in the ligand binding domain. |
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