Reproduction in Men with Klinefelter Syndrome: The Past, the Present, and the Future

Paduch, Darius A.; Bolyakov, Alexander; Cohen, Paula E.; Travis, Alexander J.

doi:10.1055/s-0029-1202302

Cited by 72 publications

(79 citation statements)

References 54 publications

(86 reference statements)

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“…Thus, as in Drosophila, the germ cell genotype contributes to germ cell sex determination in the mouse and depends on the number of X chromosomes. Similarly, humans with altered sex chromosome constitutions, such as those with Turner's Syndrome (XO females) or Klinefelter's Syndrome (XXY males) have relatively normal somatic development but exhibit severe germline defects (Hjerrild et al, 2008;Paduch et al, 2009), indicating that the proper number of X chromosomes in the germline is essential for germline development.…”

Section: Germline Sex Determination In Other Speciesmentioning

confidence: 99%

The establishment of sexual identity in theDrosophilagermline

Casper

Doren

2009

Development

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The establishment of sexual identity is a crucial step of germ cell development in sexually reproducing organisms. Sex determination in the germline is controlled differently than in the soma, and often depends on communication from the soma. To investigate how sexual identity is established in the Drosophila germline, we first conducted a molecular screen for genes expressed in a sex-specific manner in embryonic germ cells. Sex-specific expression of these genes is initiated at the time of gonad formation (stage 15), indicating that sexual identity in the germline is established by this time. Experiments where the sex of the soma was altered relative to that of the germline (by manipulating transformer) reveal a dominant role for the soma in regulating initial germline sexual identity. Germ cells largely take on the sex of the surrounding soma, although the sex chromosome constitution of the germ cells still plays some role at this time. The male soma signals to the germline through the JAK/STAT pathway, while the nature of the signal from the female soma remains unknown. We also find that the genes ovo and ovarian tumor (otu) are expressed in a female-specific manner in embryonic germ cells, consistent with their role in promoting female germline identity. However, removing the function of ovo and otu, or reducing germline function of Sex lethal, had little effect on establishment of germline sexual identity. This is consistent with our findings that signals from the soma are dominant over germline autonomous cues at the initial stage of germline sex determination.

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Section: Germline Sex Determination In Other Speciesmentioning

confidence: 99%

The establishment of sexual identity in theDrosophilagermline

Casper

Doren

2009

Development

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“…Nonetheless valuable information can be patterns. 57 In other diseased settings, the site of aromatization is restricted to and increased in the cell type(s) that are compromised in the disease, as evidenced in Sertoli 36 and Leydig 58 cell tumors, and intratubular germ cell neoplasia. 41 The localization of aromatase in these settings suggests there are additional sources of estrogen production in the testis, which may function to feed tumor growth.…”

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confidence: 99%

Teasing out the role of aromatase in the healthy and diseased testis

Haverfield

Ham

Brown³

et al. 2011

Spermatogenesis

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“…With the introduction of intracytoplasmic sperm injection, which involves the use of sperm extraction from deep within the testicles of patients with nonmosaic Klinefelter syndrome, some XXY men will have an increased chance of fathering a child (Kaplan et al 1963, Okada et al 1999, Ron-El et al 2000, Schiff et al 2005, Paduch et al 2009.…”

Section: Fertilitymentioning

confidence: 99%