Defects of AR and SRD5A2 genes in the patients presenting with the abnormal peripheral action of androgens

Kolodkina A.A.

FGU ÉNTs

Kalinchenko N.Iu.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Nizhnik A.N.

FGU ÉNTs

Faĭzulin A.K.

Moskovskiĭ mediko-stomatologicheskiĭ universitet, Moskva

Karmanov M.E.

RDKB

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Defects of AR and SRD5A2 genes in the patients presenting with the abnormal peripheral action of androgens

Authors:

Kolodkina A.A., Kalinchenko N.Iu., Nizhnik A.N., Faĭzulin A.K., Karmanov M.E., Tiul'pakov A.N.

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Journal: Problems of Endocrinology. 2011;57(5): 24‑29

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Kolodkina AA, Kalinchenko NIu, Nizhnik AN, Faĭzulin AK, Karmanov ME, Tiul'pakov AN. Defects of AR and SRD5A2 genes in the patients presenting with the abnormal peripheral action of androgens. Problems of Endocrinology. 2011;57(5):24‑29. (In Russ.)

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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.

Keywords:

abnormal sex formation

androgen resistance syndrome

type 2 5-alpha reductase deficiency

AR gene

SRD5A2 gene

Authors:

Kolodkina A.A.

FGU ÉNTs

Kalinchenko N.Iu.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Nizhnik A.N.

FGU ÉNTs

Faĭzulin A.K.

Moskovskiĭ mediko-stomatologicheskiĭ universitet, Moskva

Karmanov M.E.

RDKB

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

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