Androgen-Insensitivity Syndrome : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 1 페이지: 1

Androgen-Insensitivity Syndrome - 새창 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) 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.
Synonyms : Androgen-Insensitivity Syndrome, Complete, Androgen-Insensitivity Syndrome, Partial, Reifenstein Syndrome, Reifenstein's Syndrome, Androgen Insensitivity Syndrome, Androgen Insensitivity Syndrome, Complete, Androgen Insensitivity Syndrome, Partial