Human Reproduction Update Advance Access published online on September 19, 2005
Human Reproduction Update, doi:10.1093/humupd/dmi039
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1 Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
* To whom correspondence should be addressed. Klinefelter syndrome (47,XXY) is characterized by small, firm testis, gynaecomastia, azoospermia and hypergonado-tropic hypogonadism. Degeneration of the seminiferous tubules in 47,XXY males is a well-described phenomenon. It begins in the fetus, progresses through infancy and accelerates dramatically at the time of puberty with complete hyalinization of the seminiferous tubules, although a few tubules with spermatogenesis may be present in adult life. Activation of the pituitary-gonadal axis at 3 months of age is seen in Klinefelter boys similar to healthy boys. However, the level of testosterone in Klinefelter boys is significantly lower than in controls. After this ‘minipuberty’, the hormone levels decline to normal prepubertal levels until puberty. In puberty, an initial rise in testosterone, inhibin B, LH and FSH occurs in Klinefelter boys. However, the rise in testosterone levels off and ends at a low-normal level in young adults. Likewise, serum concentration of inhibin B exhibits a dramatic decline to a low, often undetectable level, concomitantly with a rise in FSH, reflecting the degeneration of the seminiferous tubules. Many hypotheses about the underlying mechanism of the depletion of the germ cells in Klinefelter males have been reported and include insufficient supranumerary X-chromosome inactivation, Leydig cell insufficiency and disturbed regulation of apoptosis of Sertoli and Leydig cells. However, at present, the exact mechanism remains unclear. In this article, we summarize current knowledge on the development of the classical endocrinological and histological features of 47,XXY males from fetus to adulthood and review the literature concerning the degeneration of the seminiferous tubules in this syndrome
Received June 15, 2005
Revised August 1, 2005
Accepted August 15, 2005
Article
Natural history of seminiferous tubule degeneration in Klinefelter syndrome
2 Hospital for Children and Adolescents, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland
3 Hospital for Children and Adolescents, Helsinki University Central Hospital, University of Helsinki, Helsinki; Department of Pediatrics, Kuopio University Hospital, University of Kuopio, Kuopio, Finland
Anders Juul, E-mail: ajuul{at}rh.dk
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