Androgen-Insensitivity Syndrome
Synonyms
AR Deficiencies
AR Deficiency
Androgen Insensitivities, Partial
Androgen Insensitivity Syndrome
Androgen Insensitivity Syndrome, Complete
Androgen Insensitivity Syndrome, Partial
Androgen Insensitivity Syndromes
Androgen Insensitivity, Partial
Androgen Receptor Deficiencies
Androgen Receptor Deficiency
Androgen Resistance Syndrome
Androgen Resistance Syndromes
Androgen-Insensitivity Syndrome, Complete
Androgen-Insensitivity Syndrome, Partial
Androgen-Insensitivity Syndromes
Androgen-Insensitivity Syndromes, Complete
Androgen-Insensitivity Syndromes, Partial
Complete Androgen-Insensitivity Syndrome
Complete Androgen-Insensitivity Syndromes
DHTR Deficiencies
DHTR Deficiency
Deficiencies, AR
Deficiencies, Androgen Receptor
Deficiencies, DHTR
Deficiencies, Dihydrotestosterone Receptor
Deficiency, AR
Deficiency, Androgen Receptor
Deficiency, DHTR
Deficiency, Dihydrotestosterone Receptor
Dihydrotestosterone Receptor Deficiencies
Dihydrotestosterone Receptor Deficiency
Feminization Syndrome, Testicular
Feminization Syndromes, Testicular
Feminization, Testicular
Feminizations, Testicular
Insensitivities, Partial Androgen
Insensitivity Syndrome, Androgen
Insensitivity Syndromes, Androgen
Insensitivity, Partial Androgen
Male Pseudohermaphroditism Due to Androgen Insensitivity
Partial Androgen Insensitivities
Partial Androgen Insensitivity
Partial Androgen-Insensitivity Syndrome
Partial Androgen-Insensitivity Syndromes
Receptor Deficiencies, Androgen
Receptor Deficiencies, Dihydrotestosterone
Receptor Deficiency, Androgen
Receptor Deficiency, Dihydrotestosterone
Reifenstein Syndrome
Reifenstein's Syndrome
Reifensteins Syndrome
Resistance Syndrome, Androgen
Resistance Syndromes, Androgen
Testicular Feminization
Testicular Feminization Syndrome
Testicular Feminization Syndromes
Testicular Feminizations
A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY.