[Androgen insensitivity].
Manifestations of resistance to androgens vary within a wide range from an almost normal female phenotype to men whose only complaint is infertility. Insensitivity is caused by mutation of the gene for androgenic receptors, located on the X chromosome. Androgenic insensitivity is associated of all known hormonal resistances with the most varied mutational changes-some hundred of the latter were described. Mutations do not correlate with the clinical picture. Insensitivity to androgens is not necessarily associated with the inability of androgens to bind with the appropriate receptor, because mutations can affect any of the three receptor domains, i.e. not only the domain binding the ligand but also the domain by which the steroid receptor complex is linked to the DNA of the regulated gene or N-terminal, the so-called transactivation domain, responsible for the transfer of the hormone-borne signal to the initiation site of the controlled gene. Androgenic insensitivity can be associated with some tumourous diseases depending on steroid sex hormones such as prostate or breast cancer and also-as reported for the first time in this paper-e.g. with lymphogranuloma. Some neurodegerative diseases are also associated with a certain degree of androgenic insensitivity. For detection of androgenic resistance in addition to molecular genetic analysis dynamic tests were recommended which involve the follow-up of androgen-dependent indicators after androgen administration. These indicators are e.g. nitrogen retention or the SHBG level. The original modification of the SHBG test for androgen insensitivity is described.
Stárka
L
L
Endokrinologický ústav, Praha.
Hampl
R
R
D013734:Androgen-Insensitivity Syndrome / Q000503:physiopathology; D000728:Androgens / Q000502:physiology*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D011944:Receptors, Androgen / Q000235:genetics; D013577:Syndrome
D000728:Androgens; D011944:Receptors, Androgen
Necitlivost na androgeny.