Fertility preservation in adolescents with Klinefelter's syndrome.

Abstract

Klinefelter's syndrome (KS) is one the most common sex chromosomal abnormalities and is characterized by hypergonadotropic hypogonadism and infertility. Some men with non-mosaic syndrome have azoospermia and only few have oligospermia. In adult 47,XXY, germ cell aplasia, total tubular atrophy or hyalinising fibrosis and relative hyperplasia of Leydig cells are found. Occasionally, single foci of spermatogenesis do exist in the testes. The mechanisms leading to degeneration of seminiferous tubules are unknown. But this process accelerates dramatically at the time of puberty. Therefore, the preservation of reproductive potential for a chromosopathy that for years has been synonymous of sterility may offer to KS subjects the ability to father genetically own their child and may have significant psychological consequences in adulthood. In non-mosaic KS, pregnancy have been reported using intracytoplasmic sperm injection (ICSI) with ejaculated spermatozoa. In azoospermic KS men, ICSI using testicular spermatozoa retrieved with micro-testicular extracted sperm (TESE) is the sole mode of treatment that can be offered, besides sperm donation. These issues are addressed here with the aim of assisting physicians in the management of adolescents with KS.