Abstract
Gynecomastia was present in a 4 yr old boy without pubic hair or phallic enlargement but with growth acceleration, early pubertal testicular enlargement and a bone age of 8 yr. The patient and his father have Peutz-Jeghers syndrome. Testicular ultrasound showed diffuse disruption of the gonadal parenchyma in the patient but not in his father. Peripheral levels of testosterone (T), estradiol (E2) and gonadotropins were prepubertal. Testicular vein blood samples revealed T levels of 680 and 690 pg/ml, 1/1000 the concentrations reported in adult men; in contrast, E2 measurements of 1270 and 1150 pg/ml were similar to adult male levels, indicating increased T to E2 synthesis. Testicular biopsies showed bilateral, multi-focal sex cord tumors with annular tubules. Aromatase activity assessed in tumor homogenates revealed the production of 4 22 pmol estrone/gm wet weight tissue/hr, two-thirds of the enzyme amounts found in human placenta. Aromatase was also detected by peroxidase-antiperoxidase immunocytochemistry using a specific monoclonal antibody and was localized within the cytoplasm of abnormal appearing Sertoli cells. In conclusion, increased tumor expression of a single enzyme resulted in excess steroid production (E2) and symptoms thereof, without evidence of elevated substrate (T). Testicular aromatasomas are a unique cause of prepubertal gynecomastia.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kulin, H., Coen, P., Santen, R. et al. 123 GYNECOMASTIA IN THE PEUTZ-ZEGHERS SYNDROME IS CAUSED BY TESTICULRA TUMOR AROMATASE PRODUCTION. Pediatr Res 24, 537 (1988). https://doi.org/10.1203/00006450-198810000-00144
Issue Date:
DOI: https://doi.org/10.1203/00006450-198810000-00144