Abstract

Androgen Insensitivity Syndrome is a rare genetic condition characterized by the body's inability to respond to androgen hormones, leading to various phenotypic presentations, including amenorrhoea and vaginal agenesis. These disorders result from mutations of the androgen receptor gene. A 22-year-old woman with complaints of no menstruation since puberty. The patient was born and raised as a female.[L2.1][AK2.2] Physical examination revealed enlarged breasts, widened hips, female external genitalia, and no Adam's apple. Expressed sexual orientation was towards males. MRI imaging of the pelvis found abnormal signal, considered as cryptorchidism, no uterus or ovaries. Hormone examination showed estradiol 23.6 pg/mL, testosterone 88.67 mmol/L, LH 30.9 mIU/mL. Karyotyping revealed 46,XY. Histopa[L3.1][AK3.2]thological examination showed testicular tissue, surrounded by a connective tissue capsule. The patient gendered herself as female, neovaginal surgery and orchidectomy were performed. Disruption of this gene lead to a mismatch between phenotype and genotype. Therefore, comprehensive examinations are important.

Key words: Complete androgen insensitivity syndrome, 46,XY, testosterone, androgen receptor.