Androgenokänslighetssyndrom (Androgen-Insensitivity Syndrome)

Androgenokänslighetssyndrom

En störning av sexuell utveckling som överförs som ett X-länkat recessivt drag. Dessa patienter har en karyotyp av 46, XY med end-organresistens mot androgen på grund av mutationer i androgenreceptorn (RECEPTORER, ANDROGEN) genen. Svårighetsgraden av defekten i receptorkvantitet eller kvalitet korrelerar med deras fenotyper. Hos dessa genetiska män, det fenotypiska spektrumet sträcker sig från de med normala kvinnlig yttre könsorgan, genom de med könsorganens tvetydighet som i Reifensteins Syndrom, till en normal manlig med INFERTILITET.

Förklaring på engelska

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.

Synonym, svenska: Testikulär feminisering; Reifensteins syndrom; Androgenreceptorbrist; Androgenokänslighet; Androgenresistens

Synonym, engelska: 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

Svensk term Androgenokänslighetssyndrom
Synonym på svenska Testikulär feminisering; Reifensteins syndrom; Androgenreceptorbrist; Androgenokänslighet; Androgenresistens
Synonym på engelska 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
Engelsk term Androgen-Insensitivity Syndrome
MESH ID D013734

MESH-termer, förklaringar och definitioner kommer från NIH NLM. Förklaringar på svenska är gjort av KIB och MEDE.