A challenging diagnosis of complete androgen insensitivity syndrome in a young Eritrean woman: a case report

Abstract

Background:Androgen insensitivity syndrome is a rare X-linked disorder in which a 46xy individual fails to virilize normally owing to varying degrees of impairment in androgen receptor function. Androgen insensitivity syndrome manifests in a spectrum of phenotypes. Case presentation: A 27-year-old Eritrean who identified as a female presented with a history of primary amenorrhea and dyspareunia. Physical examination revealed the absence of pubic and axillary hair. The patient was tall, measuring 1.84 cm, and had a 4 cm long blind-ended vaginal pouch. Ultrasonography revealed an absent uterus and fallopian tubes. Hormone analysis and Barr body test were performed. The patient underwent orchidectomy. Conclusion: Androgen insensitivity syndrome presents a broad spectrum of phenotypes. Therefore, a high index of suspicion is crucial among healthcare professionals to enable prompt diagnosis prior to the assignment of gender.