Huge seminoma developed in a patient with testicular feminization

Abstract

We report a 36-year-old patient who presented with primary amenorrhea and was found to have a giant abdominal tumor. There was a family history of primary amenorrhea in her two aunts. Physical and hormonal examinations as well as chromosomal analysis led to a diagnosis of testicular feminization. The patient underwent tumorectomy along with pelvic and para-aortic lymphadectomy. The pathological diagnosis was bilateral seminoma of the testis with metastasis to para-aortic lymph nodes. Nowadays, cases of undiagnosed seminoma developing into a huge abdominal mass in patients with testicular feminization are rarely encountered, since surgical castration is generally recommended as early as possible after puberty. In testicular feminization, the risk of malignant transformation of the dysgenetic male gonads increases substantially after puberty. Early and correct diagnosis together with careful follow-up are critically important in managing testicular feminization, a rare congenital disorder.

A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome

“…Malignancy of the tumours was not found. This is consistent with the opinion among physicians that the risk of malignancy in androgen receptor insensitivity syndrome is considerably lower than with other intersex disorders, and can occur at a later age [23,24].…”

Long-Term Outcome of Disorders of Sex Development

“…Sometimes this is the reason for choosing to have them removed. There is an increased risk of testicular cancer (seminoma), but this risk, once considered to be about 9%, is now thought to be of the order of 3% and only occurs after puberty [Skakkebaek, 1979;Handa et al, 1995;Sakai et al, 2000;Nojima et al, 2004;Hannema et al, 2006;Looijenga et al, 2007;Robboy and Jaubert, 2007]. Current recommendations would support leaving the testes in until after puberty has been completed and then either removing them (with oestrogen replacement) or instituting a careful monitoring process for the early detection of seminoma.…”

Complete androgen insensitivity syndrome: Review of four cases

“…Early detection of CAIS is a kind of prevention of testicular tumors diagnosed in adult age [1,2,8,10]. In our cases of CAIS detection no trace of tumor was found.…”

“…The main reason for prepubertal gonadectomy is the risk of malignancy in CAIS -which is considerable and occurs at later age. Although it is known that the patients over 30 are at the greatest risk for malignancy development [10][11][12] in recent literature malignant alteration of retained testicles has been reported in both prepubertal and in adult patients [13,14]. Today the laparoscopical method is a "gold standard" as a diagnostic and surgical approach [15].…”