A case of androgen insensitivity syndrome with a serous gonadal cyst

Abstract

Androgen insensitivity syndrome (AIS) results from a defect in the androgen receptor. Patients with AIS have a XY karyotype and a female phenotype. We present a patient with AIS and a serous gonadal cyst who underwent laparoscopic gonadectomy.A 15-year-old phenotypic female was referred to our hospital due to primary amenorrhea. She was 162.5 cm in height and 63.0 kg in weight, with developed breasts (Tanner III) and no pubic hair. The gynecologic examination revealed a normal vulva and perineum. The distal vagina was 8 cm in length and ended blindly. A MRI revealed an absent uterus and ovaries and the presence of bilateral masses close to each external iliac vessel. A mass on the left side was cystic, with a diameter of 3.3 cm. A hormonal analysis was as follows: FSH, 12.0 mIU/mL; LH, 30.5 mIU/mL, E2, 36.25pg/mL, T, 10.12 ng/mL; and PRL, 23.9 ng/mL. The tumor markers were not elevated. The chromosome analysis revealed a normal 46,XY karyotype. We diagnosed complete androgen insensitivity syndrome (CAIS) and performed a laparoscopic gonadectomy. The histopathologic findings of the gonads revealed immature testes, and no signs of malignancy. After surgery, she received estrogen replacement therapy.Estrogen from the gonads plays a role in developing feminine secondary sexual characteristics, thus gonadectomy is recommended after puberty in patients with AIS; laparoscopic gonadectomy has been shown to be a safe approach in such cases. In this case, we considered the possibility of malignant changes in the serous gonadal cyst, and a laparoscopic gonadectomy was performed before the completion of puberty.