Abstract 26: A rare case of primary amenorrhea

Background: Androgen Insensitivity Syndrome is characterized by phenotypes ranging from a normal female type of external genitalia to ambiguous genitalia. It is a rare X linked disorder of sexual development caused by different mutations in the androgen receptor gene leading to varied response to the circulating androgens. We describe a case of 18 years old female presenting with primary amenorrhea. Case presentation: An eighteen years old female presented with primary amenorrhea. On examination, she has tanner B4 breast staging with scanty pubic and axillary hair. External genitalia revealed normal female appearance with short blind ended vagina. Imaging showed absent uterus and ovaries. She was suspected to have complete androgen insensitivity syndrome. The subsequent clinical, hormonal and radiological evaluation is presented here. Conclusion: Complete androgen insensitivity syndrome should be suspected in primary amenorrhea patients presenting with normal secondary sexual characteristics and normal external genitalia. Its diagnosis and management require a multi-disciplinary team.