Diagnosis and treatment of disorders of the androgen receptor
- Olaf Hiort, MD
Olaf Hiort, MD
- University of Lübeck
- Section Editors
- Peter J Snyder, MD
Peter J Snyder, MD
- Editor-in-Chief — Endocrinology
- Section Editor — Pituitary Disease; Male Reproductive Endocrinology
- Professor of Medicine
- University of Pennsylvania School of Medicine
- Alvin M Matsumoto, MD
Alvin M Matsumoto, MD
- Section Editor — Male Reproductive Endocrinology
- Professor of Medicine
- University of Washington School of Medicine
- Mitchell E Geffner, MD
Mitchell E Geffner, MD
- Section Editor — Pediatric Endocrinology
- Professor of Pediatrics
- Keck School of Medicine, University of Southern California
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 . 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 amenorrheaTo continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
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- Complete androgen insensitivity syndrome
- Partial androgen insensitivity syndrome
- - Genotype-phenotype correlations
- - Differential diagnosis
- - Genetic testing
- Gender assignment in the newborn
- Cryptorchid testes
- Timing of gonadectomy
- Hormone replacement or supplementation
- Surgery of the urogenital tract
- Gynecomastia in men with PAIS
- Psychological support and disclosure
- SUMMARY AND RECOMMENDATIONS