Androgen insensitivity syndrome (AIS), also known as testicular feminization, encompasses a wide range of phenotypes that are caused by numerous different mutations in the androgen receptor gene. AIS is an X-linked recessive disorder that is classified as complete, partial, or mild based on the phenotypic presentation. The clinical findings include a female type of external genitalia, 46-XY karyotype, absence of Mullerian structures, presence of Wolffian structures to various degree, and normal to high testosterone and gonadotropin levels. The syndrome is illustrated by a 24-year-old phenotypic female who presented with an inability to conceive, normal-appearing external genitalia, an absent uterus and ovaries, and bilateral testes at the level of the internal inguinal ring. Management includes counseling, gonadectomy to prevent primary malignancy in undescended gonad, and hormone replacement. The karyotyping of family members is advocated because of known familial tendencies.
KEYWORDS: Androgen insensitivity syndrome; Androgen receptor gene; Testicular feminization syndrome; Gonadectomy
CORRESPONDENCE: Dr. Gajanan S. Bhat, Resident in Urology, Institute of Nephrourology, Victoria Hospital Campus, Fort Bangalore- 560 002, Karnataka, India (email@example.com).
CITATION: UroToday Int J. 2011 Jun;4(3):art33. doi:10.3834/uij.1944-5784.2011.06.04
ABBREVIATIONS AND ACRONYMS: AIS, androgen insensitivity syndrome (CAIS, complete; MAIS, mild; PAIS, partial); AR, androgen receptor; LH, luteinizing hormone.