A CASE REPORT ON ANDROGEN INSENSITIVITY SYNDROME

Abstract

Androgen Insensitivity Syndrome is an X linked disorder resulting in normal masculinization of external genitalia due to loss of function mutation in AR gene. Case Report : A 18 year old female presented with C/O not attaining menarche. Patient gives a history of lack of development of pubic and axillary hair. No history of abnormal breast development,cyclical abdominal pain or excessive weight gain. No relevant family history. O/E No palpable swellings in abdomen or bilateral inguinal region. External genitalia appear like a normal female external genitalia. The patient's karyotyping was done and it is of male genotype. The patient is diagnosed as Complete AIS as the phenotype is female and genetically male. The patient is managed by laparoscopic B/L orchidectomy with B/L deep ring closure.