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Diagnosis and treatment of disorders of the androgen receptor

Olaf Hiort, MD
Section Editors
Peter J Snyder, MD
Alvin M Matsumoto, MD
Mitchell E Geffner, MD
Deputy Editor
Kathryn A Martin, MD


Defects in androgen receptor (AR) function cause a disorder of sex development (DSD) in which 46,XY individuals do not virilize normally, despite the presence of bilateral testes and serum testosterone concentrations within or above the normal male range [1]. The various phenotypes in the disorder are mostly due to varying degrees of impairment in AR function. Since the AR is encoded by a gene on the X chromosome, all AR mutations are inherited in an X-linked recessive fashion. (See "Pathogenesis and clinical manifestations of disorders of androgen action".)


The possibility of an androgen receptor (AR) disorder causing resistance to the action of androgen should be considered in the following clinical situations:

Males and females of all ages, including newborns, who have ambiguous genitalia (see "Evaluation of the infant with atypical genitalia (disorder of sex development)")

Girls with inguinal hernias or labial masses

Women with primary amenorrhea

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Literature review current through: Nov 2017. | This topic last updated: Apr 17, 2017.
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