Melo KF, Mendonca BB, Billerbeck AE, Costa EM, Inacio M, Silva FA, et al.Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene
. J Clin Endocrinol Metab.
The Androgen Receptor Gene
Mutations Database: 2012 update.
Mutations of androgen receptor gene
in androgen insensitivity syndromes.
The 46, XY DSD can be categorized as disorders of testis development (e.g., complete or partial gonadal dysgenesis), disorders of androgen synthesis [e.g., 3[beta]-hydroxysteroid dehydrogenase 2, 17[alpha]-hydroxylase/17,20-lyase, 17[beta]-hydroxysteroid dehydrogenase, or 5[alpha]-reductase type 2 deficiency (5ARD)], disorders of androgen action (e.g., androgen insensitivity syndrome due to mutations in the androgen receptor gene
), and other conditions affecting sex development.
Guo et al., "The association between androgen receptor gene
CAG polymorphism and polycystic ovary syndrome: a case-control study and meta-analysis," Journal of Assisted Reproduction and Genetics, vol.
In the primary trial of 171 patients, men found to have multiple copies of the androgen receptor gene
were four times more likely to die than those who had a negative test result.
Balercia, "Androgen receptor gene
CAG repeat polymorphism independently influences recovery of male sexual function after testosterone replacement therapy in postsurgical hypogonadotropic hypogonadism," The Journal of Sexual Medicine, vol.
Fischbeck, "Androgen receptor gene
mutations in X-linked spinal and bulbar muscular atrophy," Nature, vol.
Ross, "The CAG and GGC Microsatellites of the Androgen Receptor Gene
Are in Linkage Disequilibrium in Men with Prostate Cancer," Cancer Research, vol.
Patient 609 showed 22 and 23 repeats of CAG in the first exon of the androgen receptor gene
(data not shown).
Androgen receptor gene
CAG repeat polymorphism in the development of ovarian hyperandrogenism.
Amplification and overexpression of androgen receptor gene
in hormone-refractory prostate cancer.