DIMINISHED TESTICULAR FUNCTION IN "MALE TURNER'S SYNDROME".

Abstract

In 2 boys with physical anomalies characteristic of Turner's syndrome, evidence of germinal cell deficiency and diminished testicular androgenic function were observed, analogous to the defects in ovarian germinal and hormonal function in females with Turner's syndrome. Evidence for diminished androgenic function included retarded virilization, elevated urinary gonadotrophin levels, and failure of gonadotrophin administration to initiate pubescence or to cause a rise in androsterone excretion, in contrast to accelerated sexual development and a marked rise in androsterone excretion in controls. Both patients virilized and grew rapidly following androgen administration. One of the 2 cases appears to be the first reported instance of male Turner's syndrome with XO/XY/ XYY chromosome mosaicism. The karyotype in the second case was XY/46.