Abstract

Seminiferous tubule dysgenesis (Klinefelter’s syndrome) was proved by testicular biopsy in 17-year-old identical twins who presented with the typical clinical features of the syndrome. Female nuclear chromatin patterns were present in the Leydig cells and in buccal mucosal smears of both patients. The identity of the twins was established by means of reciprocal homografts, blood antigen studies, dermatoglyphics and the history of a single placenta. The principal theories concerning the etiology of this syndrome arc briefly reviewed. It is concluded that concordance for seminiferous tubule dysgenesis in identical twins in the light of previous evidence supports the concept that a genetic predisposition exists in this disorder.

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