A Case Report of Complete Androgen Insensitivity Syndrome.

Kim, Sun Young; Hwang, Kyung Joo; Ahn, Hyun Soo; Joo, Hee Jae; Joo, Yeon Jong; Kwon, Hyuck Chan; Oh, Kie Suk

Case Report

Korean Journal of Obstetrics & Gynecology 1999;42(5):1146-1150.
Published online January 1, 2001.

A Case Report of Complete Androgen Insensitivity Syndrome.

Sun Young Kim, Kyung Joo Hwang, Hyun Soo Ahn, Hee Jae Joo, Yeon Jong Joo, Hyuck Chan Kwon, Kie Suk Oh

Abstract

The androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resembles males. Mutations of the androgen receptor gene are responsible for a variable degree of impaired androgen action. The complete androgen insensitivity syndrome is characterized by normal female external appearance in spite of the normal male karyotype 46XY with testes and normal testosterone production and metabolism. This is transmitted by X-linked recessive manner. Wolffian duct does not develop. However, m llerian development does not occur in presence of antim llerian hormone activity. Recently we experienced a case of complete androgen insenditirity syndrome. We reported a case with concerned literatures.

Key Words: androgen insensitivity syndrome, androgen receptor