Androgen-Insensitivity Syndrome

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.

Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndromes Androgen Insensitivity Syndrome Androgen Insensitivity Syndromes Insensitivity Syndrome, Androgen Insensitivity Syndromes, Androgen Androgen Resistance Syndrome Androgen Resistance Syndromes Resistance Syndrome, Androgen Resistance Syndromes, Androgen Male Pseudohermaphroditism Due to Androgen Insensitivity Testicular Feminization Feminizations, Testicular Feminization, Testicular Testicular Feminizations Androgen-Insensitivity Syndrome, Complete Androgen Insensitivity Syndrome, Complete Androgen-Insensitivity Syndromes, Complete Complete Androgen-Insensitivity Syndrome Complete Androgen-Insensitivity Syndromes Testicular Feminization Syndrome Feminization Syndromes, Testicular Feminization Syndrome, Testicular Testicular Feminization Syndromes Reifenstein Syndrome Androgen Insensitivity, Partial Androgen Insensitivities, Partial Insensitivities, Partial Androgen Insensitivity, Partial Androgen Partial Androgen Insensitivities Partial Androgen Insensitivity Androgen-Insensitivity Syndrome, Partial Androgen Insensitivity Syndrome, Partial Androgen-Insensitivity Syndromes, Partial Partial Androgen-Insensitivity Syndrome Partial Androgen-Insensitivity Syndromes Reifenstein's Syndrome Reifensteins Syndrome Androgen Receptor Deficiency Androgen Receptor Deficiencies Deficiencies, Androgen Receptor Deficiency, Androgen Receptor Receptor Deficiencies, Androgen Receptor Deficiency, Androgen Dihydrotestosterone Receptor Deficiency Deficiencies, Dihydrotestosterone Receptor Deficiency, Dihydrotestosterone Receptor Dihydrotestosterone Receptor Deficiencies Receptor Deficiencies, Dihydrotestosterone Receptor Deficiency, Dihydrotestosterone AR Deficiency AR Deficiencies Deficiencies, AR Deficiency, AR DHTR Deficiency Deficiencies, DHTR Deficiency, DHTR DHTR Deficiencies

C12.050.351.875.253.096.500 C12.200.706.316.096.500 C12.800.316.096.500 C16.131.939.316.096.500 C16.320.322.061 C19.391.119.096.500