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Androgen-Insensitivity Syndrome

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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.  check the tag MALE    Other names Testicular Feminization; Testicular Feminizations; Testicular Feminization Syndromes; Syndromes, Testicular Feminization; Syndromes, Partial Androgen-Insensitivity; Syndromes, Complete Androgen-Insensitivity; Syndromes, Androgen-Insensitivity; Syndromes, Androgen Resistance; Syndrome, Testicular Feminization; Syndrome, Reifenstein's; Syndrome, Reifenstein; Syndrome, Partial Androgen-Insensitivity; Syndrome, Complete Androgen-Insensitivity; Syndrome, Androgen-Insensitivity; Syndrome, Androgen Resistance; Resistance Syndromes, Androgen; Resistance Syndrome, Androgen; Reifensteins Syndrome; Receptor Deficiency, Androgen; Receptor Deficiencies, Androgen
 
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Lubs syndrome  0   *Androgen-Insensitivity Syndrome.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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