Ultrastructure of the gonads in the testicular feminization syndrome.

The testicular feminization syndrome is a form of familial male pseudohermaphroditism transmitted by an X-linked gene. The karyotype is 46XY. Affected patients resemble normal females phenotypically. To date, only eight cases of this syndrome have been studied by electron microscope. This study reports the ultrastructural appearance of the gonads in two additional patients. The presence of mature interstitial cells with a rich endoplasmic reticulum suggests that the pathologic defect is not due to a lack of androgenic hormone production by the testes but is caused by peripheral end-organ resistance.