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.
推出的年份: 2002(1968)
树号: 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
MeSH 单一 ID: D013734
进入的组:
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
早前的内容:
Sex Differentiation Disorders (1966-1967)
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