| 单词 | Androgen-Insensitivity Syndrome,Complete |
| 释义 | Androgen-Insensitivity Syndrome,Complete《英文msh词典》Androgen-Insensitivity Syndrome,Complete [入口词] Androgen-Insensitivity Syndrome,Complete [主题词] Androgen-Insensitivity Syndrome [英文释义] A familial form of PSEUDOHERMAPHRODITISM 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; AR) gene. Severity of the defect in AR quantity or quality correlates with their phenotypes. The phenotype spectrum varies from those with normal female external genitalia in ANDROGEN-INSENSITIVITY SYNDROME,through those with genital ambiguity in Reifenstein Syndrome,to that of a normal male with INFERTILITY. |
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