First case of bilateral intratubular germ cell tumor in androgen insensivity syndrome

Androgen insensivity syndrome is an X-linked recessive disorder caused by a mutation of the androgen receptor gene localized in Xq 11-q12-b. Affected males have a female phenotype with undescended testis. Aim of the study is the description of the first case of bilateral intratubular germ cell tumor in androgen insensivity syndrome.

In September 2002, a 24-year-old woman with XY karyotype and childhood diagnosis of complete testicular feminization first came under our observation. An abdominal ultrasound showed, in correspondence with the inguinal canal, bilaterally, two oval formations with a diameter of about 45 x 20 mm, referable to gonads. Only for the right gonad, furthermore, the presence of a round anechoic image could be seen, of about 1.5 cm and small multiple microcalcifications (6). Explorative laparoscopy and bilateral orchiectomy were carried out.

Histological examination revealed the presence of a bilateral intratubular germ cell tumor. A review of the literature on this subject did not yield any adjuvant therapy or standardized follow-up for these patients. We thought it advisable not to carry out any adjuvant therapy, and to follow the patient with abdomen/pelvic CT scans. The current follow-up after four years is negative for relapses.

Post-pubertal bilateral orchiectomy, considering the relevant chances of neoplastic progression of the undescended testis, is the therapy chosen for patients with androgen insensivity syndrome. In patients with TIN, orchiectomy is a valid therapeutic option, followed by a strict follow-up abdomen/pelvic CT scan, chest XR, tumor markers every three months for the first two years.