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A complete form of testicular feminisation syndrome; a light and electron microscopy study

A case is described of testicular feminisation syndrome in a 19-yr-old patient with a normal female appearance. A laparotomy with removal of the gonads was performed. The latter looked like testes with intraparenchymal nodules. Light and electron microscopy study of these nodules revealed the presence of immature seminiferous-like tubules and of Leydig cell clusters. The tubules were filled with clear Sertoli cells, few degenerative dark cells and scanty spermatogonia. Thin collagen bundles surrounded the tubules and the foci of Leydig cells without any crystals of Reinke. The immaturity of all these cellular components could be connected with a mutation at a repressive locus which could be responsible for the abnormalities observed in the different steps of androgen action at target cell level.