Dysgerminoma in a Prepubertal Girl with Complete 46XY Gonadal Dysgenesis: Case Report and Review of the Literature.

BACKGROUND: Complete 46XY gonadal dysgenesis (Swyer syndrome) is a rare and challenging diagnosis among prepubertal girls, as estrogen insufficiency becomes evident only during adolescence, with nonspecific symptoms such as primary amenorrhea and/or delayed puberty. Unfortunately, girls with Swyer syndrome are at high risk for malignancies in the dysgenetic gonads, which can be prevented only by performing prophylactic bilateral gonadectomy. CASE: We present a 9-year-old patient with Swyer syndrome diagnosed with dysgerminoma in the right gonad and gonadoblastoma in the left gonad after prophylactic bilateral gonadectomy. SUMMARY AND CONCLUSION: Concerning the high risk of early gonadoblastoma and its malignant transformation, we recommend performing prophylactic bilateral gonadectomy at the time of diagnosis, even if the patient is prepubertal.

46,XY pure gonadal dysgenesis: clinical presentations and management of the tumor risk.

PATIENTS: Eleven patients with 46,XY PGD were divided into two groups. Six symptomatic girls (group 1) were referred for amenorrhea (n = 3), gonadal tumor (n = 2) or campomelic dysplasia (n = 1). Five asymptomatic screened patients (group 2) were diagnosed as 46,XY PGD after familial investigation of the two probands with gonadal tumor. Bilateral gonadectomy was performed in all patients. RESULTS: In group 1, pathologic examination revealed an association of dysgerminoma with gonadoblastoma (n = 2), bilateral gonadoblastoma (n = 2) and streak gonads (n = 2). Prophylactic gonadectomy in asymptomatic patients (group 2) also showed asymptomatic dysgerminoma with gonadoblastoma (n = 1), bilateral gonadoblastoma (n = 2) and streak gonads (n = 2). CONCLUSIONS: A gonadal tumor arising in a girl with pubertal delay may be related to dysgenesis of the gonad. Primary amenorrhea or diagnosis of dysgerminoma should warrant karyotype, and familial study if 46,XY PGD is found. Considering the high incidence of gonadoblastoma and the early occurrence of dysgerminoma, early bilateral gonadectomy is recommended.

[Epidemiology of tumors of the testis]. / Epidémiologie des tumeurs du testicule.

Testicular tumours are rare tumours affecting young adults (75% of tumours are diagnosed between the ages of 25 and 40 years). The descriptive epidemiological study of the data of the literature reveals a considerable improvement in the prognosis of testicular cancers, particularly since the introduction of cisplatin in the 1980. An epidemiological study conducted on a series of 200 testicular tumours treated at Val-de-Grace military hospital between 1979 and 1989 confirms this improvement with a mortality rate of 7.5% for all stages and histological types combined, with a follow-up of 2 to 12 years.

Laparoscopic adnexectomy in a prepubertal Turner mosaic female with isodicentric Y.

Laparoscopic adnexectomy was performed in a prepubertal girl with mosaic Turner's syndrome containing an isodicentric Y chromosome. Cytogenetic analysis of lymphocytes and streak gonads are discussed.

Bilateral testicular germ cell tumours: an increasing incidence and prevention by chemotherapy.

Of 120 patients with germ cell tumours of the testis, 6 (5%) developed contralateral tumours; 63 patients received cisplatin-based combination chemotherapy for metastatic disease and none developed contralateral disease. By contrast, of 57 patients treated with orchiectomy alone or abdominal radiotherapy, 5 (8.8%) developed contralateral disease.

End results for urologic cancers. Trends and interhospital differences.

Long-term results for treatment of several urologic cancers have improved in recent years. Data from the studies of the American College of Surgeons and from the National Cancer Institute document these trends. For prostate cancer, the 5-year survival rate, for all stages, increased during the 1970s. Although seminomas of the testes have had high survival rates for several years, nonseminomas have had much poorer outcomes. Data from the 1985 survey of the American College of Surgeons indicate that the prognosis for nonseminoma tumors of the testes is now much improved. Analyses have been conducted to assess the influence of patient and tumor characteristics on end results. Age, race, stage and, histologic type continue to be the major determinants of survival. The role of treatment setting also has been studied. The data reveal that outcomes for similar patients differ little among hospitals which meet approval standards for operation of a cancer program. Issues regarding validity of the observations and the influence of "stage migration" on the end results have been examined. The distribution of survival improvements across stages, and, the correlation of changing survival with improved patterns of care may suggest that the improvements in urologic cancer outcomes are more than statistical artifacts.

[Tumours of the undescended testis (author's transl)]. / Les tumeurs sur testicule cryptorchide.

It has now been clearly demonstrated that cryptorchidism is accompanied by a very marked increase in malignancy of the ectopic testis as well as in that in place. Amongst 80 patients undergoing surgery for carcinoma of the testis 14 (17.5%) had a past history of unilateral undescended. The risk of malignancy developing in an ectopic testis is 12 to 48 times greater than that of a testis which has descended normally. It would appear that the higher the position of the testis, the greater is the risk. Orchidopexy may decreased the risk if performed before the age of 11. When the tumour is situated in an ectopic testis, the clinical picture is often misleading. When the ectopic testis has been brought down the special feature of these tumours is the frequency of spread to inguinal lymph nodes. In terms of its basic principles the treatment of these tumours does not differ from that of those affecting normal testis. The aetiology of these tumours remains uncertain. There would seem to be a consensus in favour of a disgenetic origin, possible secondary to hormonal deficiency.

[Germ cell tumours in gonadal dysgenesis (author's transl)]. / Zur Klinik der Keimzelltumoren bei Gonadendysgenesie

In a 17-year-old patient gonadal dysgenesis with a XY-karyotype was diagnosed by laparoscopy and chromosomal analysis. Two years later, the patient came again to the hospital because of a large tumour which proved to be a dysgerminoma. Except dysgerminomas, other germ cell tumours are also found in gonadal dysgenesis, for example gonadoblastomas, which consist of germinal cells, Sertoli-granulosa-cells and interstitial cells. In most cases of gonadal dysgenesis with a germ cell tumour a Y-chromosome is present. The risk of a gonadal tumour in such cases is estimated to be 25%. In gonadal dysgenesis with a Y-chromosome a prophylactic extirpation of the gonads is necessary, which should be combined with a hysterectomy.