Androgen-Insensitivity Syndrome


Engelsk definition

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.

Svenska synonymer

Testikulär feminisering Reifensteins syndrom Androgenreceptorbrist Androgenokänslighet Androgenresistens

Engelska synonymer

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