Abstract
Intersex children with a Y-chromosome carry an increased risk of developing germ cell tumors in adulthood. Carcinoma-in-situ (CIS) of the testis and gonadoblastomas have previously been shown to precede germ cell cancer; therefore, we have investigated gonadal specimens from 17 prepubertal and pubertal individuals without any sign of tumor (12 with the androgen insensitivity syndrome (AIS), 4 with 45,X/46,XY gonadal dysgenesis (GD), and 1 with 46,XY GD), in order to establish whether such histologic changes could be detected at this age. 3 out of 8 consecutive patients with incomplete AIS, aged 2 mo, 13 yrs, and 14 yrs, respectively, showed typical CIS changes, whereas non of those with complete AIS were found to have CIS. All 4 patients with 45,X/46,XY GD (3 with male phenotype, 1 with ambiguous genitalia age 1 mo-17 yrs) had CIS in at least 1 gonad. In all instances of CIS the premalignant nature of the lesion was confirmed by DNA analysis showing aneuploidy of the CIS germ cell nuclei. The 13-yr-old individual with 46,XY GD was a phenotypically normal female who during surgery for appendicitis was shown to have a dysplastic uterus, bilateral Fallopian tubes, and bilateral gonadoblastomas. In the light of evidence that CIS and gonadoblastomas are premalignant conditions, we suggest that all intersex patients with a Y-chromosome should have a gonadal biopsy performed; the information obtained will assist in the decision regarding need for gopadectomy.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Müller, J., Skakkebaek, N. 15 PREMALIGNANT HISTOLOGICAL CHANGES OF THE GONADS IN INTERSEX CHILDREN WITH A Y-CHROMOSOME. Pediatr Res 19, 606 (1985). https://doi.org/10.1203/00006450-198506000-00035
Issue Date:
DOI: https://doi.org/10.1203/00006450-198506000-00035