[Steroidal sex hormones and insensitivity syndromes].
BACKGROUND
Today more than one hundred mutations are known of the gene for androgen receptor (AR) and merely one mutation of that for estrogen. The current trend in research has included the completion of the list of receptor defects and seeking the coincidence with their variable clinical manifestations.


OBJECTIVE
The aim of the study is to review the current state of the research on the defects of androgen and estrogen receptors and to draw attention to the clinical manifestations of the resistance to the sexual steroid hormones and currently to present own contributions in this problem.


METHODS
Diagnostic application of the androgen resistance dynamic test residing in investigation of the SHBG level after androgen or anabolics administration. Molecular-biological analysis of AR defects with Phe 878 Ser mutation.


CONCLUSIONS
Perspective acknowledgement of androgen and estrogen receptor defects allows a more precise diagnosis statement and perhaps also therapy of various forms of resistance to steroid sexual hormones. It can contribute to the understanding of some subsequent pathological processes dependent on the expression of androgens and estrogens. (Tab. 1, Ref. 20.).
Stárka
L
L
Endokrinologický ústav v Praze.
Hampl
R
R
D012734:Disorders of Sex Development / Q000209:etiology* / Q000235:genetics; D006801:Humans; D011944:Receptors, Androgen / Q000235:genetics / Q000502:physiology*; D011960:Receptors, Estrogen / Q000235:genetics / Q000502:physiology*
D011944:Receptors, Androgen; D011960:Receptors, Estrogen