Complete androgen insensitivity syndrome in AN X Y female

ABSTRACT

An 18 years old, unmarried girl, attending the Gynaecological outpatient department, with history of primary amenorrhea, presented an ultrasonography report which revealed absence of uterine contours in that patient. There was no history of cyclical pain. Patient had two step sisters, aged 13 and 10 [born of different father], out of whom the elder had started menstruating. On clinical examination, the height of the patient was 167.5 cm and she weighed 52 kg. She had welldeveloped breasts. Her pubic and axillary hairs were scanty. Patient was admitted for further investigations, which showed elevated serum gonadotrophins [FSH=21.9 miu/ml LH= 946 miu/ml] and testosterone levels [5.08 ng/ml]. The pelvic ultrasonography was repeated which showed absent uterus but gonads were present bilaterally. Barr bodies were absent on buccal smear examination and karyotyping revealed 46 XY chromosomes. Examination of the patient under anaesthesia was carried out which showed normal labia majora, minora and uretheral opening and a short vagina. Gonadectomy was performed and subjected to histopathological examination, histopathology report showed that the gonads were testicular tissue. Patient's postoperative period was uneventful. She was advised to use vaginal dilators to increase the length of vagina. Hormone replacement therapy was prescribed to prevent early osteoporosis. She attended OPD for regular follow-up, no complaint were reported by the patient during this period