Diminished Testicular Function in “Male Turner's Syndrome”

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Abstract
In 2 boys with physical anomalies characteristic of Turner''s syndrome, evidence of germinal cell deficiency and diminished testicular andro-genic 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 viriliza-tion, 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.

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