Abstract
In 7 patients, aged 7 to 19 years, germ cell neoplasia was seen in their dysgenetic gonads. Four had male pseudohermaphroditism with 46 XY karyotypes, bilateral testes, ambiguous genitalia and persistent mullerian structures. Two had 46 XY pure gonadal dysgenesis and one was a 46 XX true hermaphrodite with bilateral ovo-testes. The gonads were intra-abdominal or inguinal. The most common tumour was a gonadoblastorna, present in 6 patients, bilaterally in 4 and oestrogen-secreting in 1. Malignancy was seen in tissue adjacent to the gonadoblastoma in 4 of the patients in the form of carcinoma-in-situ in the seminiferous tubules in 2, seminoma in 1 and yolk sac tumour with trophoblastic differentiation in 1. In one of the patients with pure gonadal dysgenesis only dysgerminoma was seen. Five variants of germ cell neoplasia were therefore present in these patients who appear to be at high risk of malignancy even during the pre-pubertal period. This reinforces the indication for early gonadectomy in XY gonadal dysgenesis and removal of intra-abdominal testicular tissue in true hermaphroditism.
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Savage, M., Lowe, D., Ransley, P. et al. GERM CELL NEOPLASIA IN PATIENTS WITH ABNORMAL SEXUAL DIFFERENTIATION. Pediatr Res 20, 1183 (1986). https://doi.org/10.1203/00006450-198611000-00057
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DOI: https://doi.org/10.1203/00006450-198611000-00057