46 XY, Female. Complete androgen insensitivity syndrome: a case report

Abstract

Introduction: Androgen insensitivity syndrome (AIS) is an inherited disorder of sexual development caused by mutations in the androgen receptor encoding gene.

Case report: A female patient born in 1984, at the age of 17, was diagnosed with complete androgen insensitivity syndrome, during the diagnosis of primary amenorrhea. She was assigned grade 7 in the Quigley scale. Cytogenetic analysis showed a 46 XY karyotype. Gynecological examination revealed a blind ending vagina and a lack of uterus. Physical examination revealed normal breast development and scanty pubic and axillary hair. The patient kept seeing herself as a woman. At the age of 18, the patient underwent laparoscopic gonadectomy. After the procedure, the patient was under medical supervision and was taking orally 1 mg of estradiol daily. At the age of 24 patient was diagnosed with. The patient received sodium alendronate and ibandronic acid. The level of FSH was 35.50 mlU / ml and LH was 13.05 mlU/ml.

Discussion: Quigley grades 6 and 7 correspond to complete androgen insensitivity. The genitals are completely feminized and newborns at birth are assigned as females. The diagnosis is usually established during the diagnostics of primary amenorrhea. CAIS is associated with high risks of gonad carcinogenesis and therefore a gonadectomy must be performed. Hormone replacement therapy (HRT) is required after gonadectomy in order to maintain secondary sexual characteristics. Due to the high risk of osteoporosis patient requires calcium and vitamin D supplementation and bone density control. The prognosis is good, and gonadectomy and HRT usually give satisfactory long-term results.