Pure gonadal dysgenesis. Studies of in vitro androgen metabolism

In the syndrome of pure gonadal dysgenesis, clitoromegaly is frequently present even when there are no other manifestations of androgen excess. A few cases have been reported with marked virilism, and the source of the androgen excess has been shown to be the streak gonads. Although the streak gonads contain several cell types, the lutein-Leydig cells have been theorized to be a source of testosterone synthesis. We report a case of pure gonadal dysgenesis with clitoromegaly in which pure nests of the lutein-Leydig cells were obtained from a gonadoblastoma and in which the conversion of ¹⁴C-androstenedione to ¹⁴C-testosterone by these cells was compared with that in an area of the gonad that contained no lutein-Leydig cells (germinoma). The data suggest that the lutein-Leydig cells contain 17-hydroxysteroid oxidoreductase and thus are capable of converting androstenedione to testosterone. The lutein-Leydig cells demonstrated a tenfold greater conversion of ¹⁴C-androstenedione to ¹⁴C-testosterone than the area that contained no lutein-Leydig cells. Thus, the lutein-Leydig cells are a potential source of gonadal testosterone in this patient.