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Pure gonadal dygenesis and tumor risk: a report of 10 cases

C. Capito, MD. Leclair, A. Arnaud, N. Corradini, S. Baron, A. David, Y. Heloury

CHU Nantes, France

 

ABSTRACT

Introduction: Gonadal dygenesis corresponds to abnormalities of gonadal development. This abnormal or incomplete development of the gonads is associated with a major risk of gonadal tumor. This study reports the 18 years experience of CHU Nantes in managing patients with pure gonadal dysgenesis.

Material and methods: From 1990 to 2008, 10 patients were admitted for pure gonadal dygenesis (PGD: 46,XY karyotype associated with a feminine phenotype). Clinical, biological (when available) and pathological data were analyzed.

Results: The diagnostic circumstances were:

•Pain and pelvic tumor (2 patients): dysgerminomas. In the first case (7 years old) the diagnosis was made after surgery. In the second case (17 years old) the diagnosis was supposed to be PGD before surgery because of the association: gonadal tumor, retarded puberty and low β− hCG secretion. A preoperative karyotype allowed us to confirm the diagnosis.

•Genetic advice and familial screening (4 patients related to 2 of the patients treated for dysgerminomas).• Amenorrhea and incomplete puberty (2 patients, 15 and 23 years old).

•Campomelique dysplasia (1 patient, 4 years old). A therapeutic bilateral gonadectomy was performed in the two cases of dysgerminomas. For the other 8 cases, a prophylactic bilateral gonadectomy was performed (median age 7,5; between 0 and 23 years old). Among those 8 patients, 5 of them (the 23 years old patient with amenorrhea , the patient with campomelique dysplasia and the 2 patients who benefited of genetic advice) had a gonadoblastoma; in one case the gonadoblastoma was associated with dysgerminoma (11 years old). Moreover, the 23 years old patient with amenorrhea had a breast development almost completely secondary to the gonadoblastoma hormonal secretion.

Conclusion: A gonadal tumor in a young girl with retarded puberty must raise the suspicion of pure gonadal dysgenesis. PGD must also be suspected in cases of malignant germinal tumors associated with a low hCG secretion. Genetic advice and systematic screening of the related girls must be promoted. In these cases, a bilateral gonadectomy must be performed once the diagnosis is sure because of the high tumor risk.

 

Key words: gonadal digenesis, gonadal tumor