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68. What is the natural history of testicular dysfunction in patients with KFS?

One of the hallmark feature of KFS is testicular failure and this process starts in

utero as evidenced by reduced number of germ cells in fetuses with 47,XXY. The

degenerative process continues during childhood and accelerates during ado-

lescence. Adults with KFS have extensive fibrosis and hyalinization of seminif-

erous tubules, absent/impaired spermatogenesis, and hyperplasia of Leydig

ab

c

Fig. 7.15 (a) A 30-year-old well-virilized man presented with primary infertility. (b) He had no
gynecomastia, (c) pubic hair Tanner stage P 4 , and testicular volume 2 ml. His karyotype was
46XY/47XXY

7 Delayed Puberty