Reifensteins Syndrome

《英文msh詞典》Reifensteins Syndrome
[入口詞] Reifensteins Syndrome
[主題詞] Androgen-Insensitivity Syndrome
[英文釋義] 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.