Defects of AR and SRD5A2 genes in the patients presenting with the abnormal peripheral action of androgens
Author(s) -
А. А. Колодкина,
Н. Ю. Калинченко,
Alexander N. Nizhnik,
А. К. Файзулин,
M E Karmanov,
Anatoly Tiulpakov
Publication year - 2011
Publication title -
problems of endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.124
H-Index - 5
eISSN - 2308-1430
pISSN - 0375-9660
DOI - 10.14341/probl201157524-29
Subject(s) - testosterone (patch) , peripheral , action (physics) , medicine , population , gene , hormone , peripheral blood , endocrinology , psychology , biology , genetics , physics , environmental health , quantum mechanics
The objective of the present study was to estimate the frequency of defects of AR and SRD5A2 genes in the 46XY patients of the Russian population with abnormal sex formation and disturbed peripheral action of androgens. Moreover, we assessed the diagnostic value of hormonal characteristics for the differentiation between the above patients and those having 46XY and normal testosterone secretion.
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